Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-08

AUTHORS

Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann, Sonia Bouquillon, Anne-Lise Delezoide, Bruno Delobel, Florence Demurger, Hélène Dessuant, Séverine Drunat, Christelle Dubourg, Céline Dupont, Laurence Faivre, Muriel Holder-Espinasse, Sylvie Jaillard, Hubert Journel, Stanislas Lyonnet, Valérie Malan, Alice Masurel, Nathalie Marle, Chantal Missirian, Alexandre Moerman, Anne Moncla, Sylvie Odent, Orazio Palumbo, Pietro Palumbo, Aimé Ravel, Serge Romana, Anne-Claude Tabet, Mylène Valduga, Marie Vermelle, Massimo Carella, Jean-Michel Dupont, Alain Verloes, Brigitte Benzacken, Andrée Delahaye

ABSTRACT

6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including the first patient with fetopathological data. This fetus showed dysmorphic facial features, cerebellar and cerebral migration defects with neuronal heterotopias, and fusion of brain nuclei. The size of the deletion in the 14 living patients ranged from 1.73 to 7.84 Mb, and the fetus had the largest deletion (14 Mb). Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the PWS-like phenotype. Nevertheless, only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1 haploinsufficiency. This study in the largest series reported to date confirms that the PWS-like phenotype is strongly linked to 6q16.2q16.3 deletions and varies considerably in its clinical expression. The possible involvement of other genes in the 6q16.2q16.3-deletion phenotype is discussed. More... »

PAGES

1010-1018

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2014.230

DOI

http://dx.doi.org/10.1038/ejhg.2014.230

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037369599

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25351778


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aborted Fetus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Basic Helix-Loop-Helix Transcription Factors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 6", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Comparative Genomic Hybridization", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Association Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Obesity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Penetrance", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Prader-Willi Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pregnancy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Repressor Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "1] AP-HP, Groupe hospitalier Cochin-Broca-H\u00f4tel Dieu, Laboratoire de Cytog\u00e9n\u00e9tique, Paris, France [2] INSERM, U1016 Institut Cochin, CNRS UMR8104, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "El Khattabi", 
        "givenName": "La\u00efla", 
        "id": "sg:person.0733162106.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0733162106.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "1] AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Guimiot", 
        "givenName": "Fabien", 
        "id": "sg:person.01266677015.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266677015.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "D\u00e9l\u00e9gation Paris 7", 
          "id": "https://www.grid.ac/institutes/grid.457368.b", 
          "name": [
            "1] INSERM, U1141, Paris, France [2] AP-HP, H\u00f4pital Jean Verdier, Laboratoire d'Histologie-Embryologie-Cytog\u00e9n\u00e9tique-BDR-CECOS, Bondy, France [3] Universit\u00e9 Paris 13, Sorbonne Paris Cit\u00e9, UFR SMBH, Bobigny, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pipiras", 
        "givenName": "Eva", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Jeanne de Flandre", 
          "id": "https://www.grid.ac/institutes/grid.414184.c", 
          "name": [
            "Institut de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Jeanne de Flandre, CHRU de Lille, Lille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Andrieux", 
        "givenName": "Joris", 
        "id": "sg:person.0636124670.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636124670.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Baumann", 
        "givenName": "Clarisse", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Jeanne de Flandre", 
          "id": "https://www.grid.ac/institutes/grid.414184.c", 
          "name": [
            "Institut de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Jeanne de Flandre, CHRU de Lille, Lille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bouquillon", 
        "givenName": "Sonia", 
        "id": "sg:person.0642707313.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642707313.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "1] AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Delezoide", 
        "givenName": "Anne-Lise", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Centre de G\u00e9n\u00e9tique Chromosomique, Saint-Vincent de Paul, GHIC, Lille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Delobel", 
        "givenName": "Bruno", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Rennes 1", 
          "id": "https://www.grid.ac/institutes/grid.410368.8", 
          "name": [
            "Service de G\u00e9n\u00e9tique Clinique CLAD-Ouest-CHU Rennes, universit\u00e9 Rennes1, Rennes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Demurger", 
        "givenName": "Florence", 
        "id": "sg:person.01153766207.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153766207.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "D\u00e9partement de Cytog\u00e9n\u00e9tique, Laboratoire Biomnis, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dessuant", 
        "givenName": "H\u00e9l\u00e8ne", 
        "id": "sg:person.01122477703.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122477703.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Drunat", 
        "givenName": "S\u00e9verine", 
        "id": "sg:person.0620117071.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620117071.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "l'H\u00f4pital Pontchaillou", 
          "id": "https://www.grid.ac/institutes/grid.414271.5", 
          "name": [
            "Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Pontchaillou, UMR 6290 CNRS, IGDR, Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Rennes 1, Rennes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dubourg", 
        "givenName": "Christelle", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dupont", 
        "givenName": "C\u00e9line", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Centre de r\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est, H\u00f4pital d'Enfants, CHU de Dijon et Universit\u00e9 de Bourgogne, Dijon, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Faivre", 
        "givenName": "Laurence", 
        "id": "sg:person.01237661366.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237661366.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "1] Clinical Genetics Department, Guy's Hospital, Great Maze Pond, London, UK [2] Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandres, CHRU de Lille, Lille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Holder-Espinasse", 
        "givenName": "Muriel", 
        "id": "sg:person.01111077126.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111077126.80"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "l'H\u00f4pital Pontchaillou", 
          "id": "https://www.grid.ac/institutes/grid.414271.5", 
          "name": [
            "Laboratoire de Cytog\u00e9n\u00e9tique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jaillard", 
        "givenName": "Sylvie", 
        "id": "sg:person.01136447276.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136447276.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre hospitalier Bretagne Atlantique", 
          "id": "https://www.grid.ac/institutes/grid.440367.2", 
          "name": [
            "Service de G\u00e9n\u00e9tique M\u00e9dicale, Centre Hospitalier Bretagne Atlantique, Vannes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Journel", 
        "givenName": "Hubert", 
        "id": "sg:person.0730113640.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730113640.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "D\u00e9partement de G\u00e9n\u00e9tique, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Imagine Institute, H\u00f4pital Necker-Enfants Malades, INSERM U-1163, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lyonnet", 
        "givenName": "Stanislas", 
        "id": "sg:person.01177147171.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "D\u00e9partement de G\u00e9n\u00e9tique, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Imagine Institute, H\u00f4pital Necker-Enfants Malades, INSERM U-1163, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Malan", 
        "givenName": "Val\u00e9rie", 
        "id": "sg:person.01242741602.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242741602.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Centre de r\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est, H\u00f4pital d'Enfants, CHU de Dijon et Universit\u00e9 de Bourgogne, Dijon, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Masurel", 
        "givenName": "Alice", 
        "id": "sg:person.0723717433.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723717433.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional Universitaire De Dijon", 
          "id": "https://www.grid.ac/institutes/grid.31151.37", 
          "name": [
            "Centre de r\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes Malformatifs de l'Interr\u00e9gion Est, H\u00f4pital d'Enfants, CHU de Dijon et Universit\u00e9 de Bourgogne, Dijon, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Marle", 
        "givenName": "Nathalie", 
        "id": "sg:person.01124032252.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124032252.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital de la Timone", 
          "id": "https://www.grid.ac/institutes/grid.411266.6", 
          "name": [
            "Laboratoire de G\u00e9n\u00e9tique Chromosomique, CHU Timone enfants, AP-HM, Marseille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Missirian", 
        "givenName": "Chantal", 
        "id": "sg:person.01021375516.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021375516.80"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Regional et Universitaire de Lille", 
          "id": "https://www.grid.ac/institutes/grid.410463.4", 
          "name": [
            "Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Jeanne de Flandres, CHRU de Lille, Lille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Moerman", 
        "givenName": "Alexandre", 
        "id": "sg:person.0750415674.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750415674.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital de la Timone", 
          "id": "https://www.grid.ac/institutes/grid.411266.6", 
          "name": [
            "Laboratoire de G\u00e9n\u00e9tique Chromosomique, CHU Timone enfants, AP-HM, Marseille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Moncla", 
        "givenName": "Anne", 
        "id": "sg:person.01112505345.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112505345.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Rennes 1", 
          "id": "https://www.grid.ac/institutes/grid.410368.8", 
          "name": [
            "Service de G\u00e9n\u00e9tique Clinique CLAD-Ouest-CHU Rennes, universit\u00e9 Rennes1, Rennes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Odent", 
        "givenName": "Sylvie", 
        "id": "sg:person.0746512170.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746512170.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Casa Sollievo della Sofferenza", 
          "id": "https://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Palumbo", 
        "givenName": "Orazio", 
        "id": "sg:person.01324145556.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324145556.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Casa Sollievo della Sofferenza", 
          "id": "https://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Palumbo", 
        "givenName": "Pietro", 
        "id": "sg:person.01363667342.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363667342.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Fondation J\u00e9r\u00f4me-Lejeune", 
          "id": "https://www.grid.ac/institutes/grid.453925.c", 
          "name": [
            "Institut J\u00e9r\u00f4me Lejeune, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ravel", 
        "givenName": "Aim\u00e9", 
        "id": "sg:person.01250260537.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250260537.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "D\u00e9partement de G\u00e9n\u00e9tique, Universit\u00e9 Paris Descartes-Sorbonne Paris Cit\u00e9, Imagine Institute, H\u00f4pital Necker-Enfants Malades, INSERM U-1163, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Romana", 
        "givenName": "Serge", 
        "id": "sg:person.01037134701.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037134701.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tabet", 
        "givenName": "Anne-Claude", 
        "id": "sg:person.01005553513.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005553513.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Laboratoire de G\u00e9n\u00e9tique, EA 4002, CHU, Nancy-University, Nancy, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Valduga", 
        "givenName": "Myl\u00e8ne", 
        "id": "sg:person.0750760025.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750760025.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service de P\u00e9diatrie, Centre Hospitalier de Dunkerque, Dunkerque, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vermelle", 
        "givenName": "Marie", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Casa Sollievo della Sofferenza", 
          "id": "https://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Carella", 
        "givenName": "Massimo", 
        "id": "sg:person.0701537353.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701537353.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "1] AP-HP, Groupe hospitalier Cochin-Broca-H\u00f4tel Dieu, Laboratoire de Cytog\u00e9n\u00e9tique, Paris, France [2] INSERM, U1016 Institut Cochin, CNRS UMR8104, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dupont", 
        "givenName": "Jean-Michel", 
        "id": "sg:person.01045510107.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045510107.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "1] AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Verloes", 
        "givenName": "Alain", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "1] AP-HP, D\u00e9partement de G\u00e9n\u00e9tique et Service de Biologie du d\u00e9veloppement, H\u00f4pital Robert Debr\u00e9, Universit\u00e9 Paris Diderot, Sorbonne Paris Cit\u00e9, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France [3] AP-HP, H\u00f4pital Jean Verdier, Laboratoire d'Histologie-Embryologie-Cytog\u00e9n\u00e9tique-BDR-CECOS, Bondy, France [4] Universit\u00e9 Paris 13, Sorbonne Paris Cit\u00e9, UFR SMBH, Bobigny, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Benzacken", 
        "givenName": "Brigitte", 
        "id": "sg:person.0673034447.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673034447.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "D\u00e9l\u00e9gation Paris 7", 
          "id": "https://www.grid.ac/institutes/grid.457368.b", 
          "name": [
            "1] INSERM, U1141, Paris, France [2] AP-HP, H\u00f4pital Jean Verdier, Laboratoire d'Histologie-Embryologie-Cytog\u00e9n\u00e9tique-BDR-CECOS, Bondy, France [3] Universit\u00e9 Paris 13, Sorbonne Paris Cit\u00e9, UFR SMBH, Bobigny, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Delahaye", 
        "givenName": "Andr\u00e9e", 
        "id": "sg:person.01174310117.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174310117.30"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/gim.0b013e31822bead0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001334624", 
          "https://doi.org/10.1038/gim.0b013e31822bead0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2006.02.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002445450"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2011.182", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003142051", 
          "https://doi.org/10.1038/ejhg.2011.182"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.32555", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003419858"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf03195240", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004715925", 
          "https://doi.org/10.1007/bf03195240"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3109/15513819109064745", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005444298"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1988.tb03453.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006567471"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2008.119", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006685155", 
          "https://doi.org/10.1038/ejhg.2008.119"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.30837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006775168"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.30837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006775168"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2005.12.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007164900"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10024-002-0036-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007588098", 
          "https://doi.org/10.1007/s10024-002-0036-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/17470919.2014.897995", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007708567"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1996.tb02368.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008406808"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1442-200x.2010.03090.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011141701"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1442-200x.2010.03090.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011141701"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2007.00960.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013161614"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.20611", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013601125"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.39.8.594", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014914547"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-006-0157-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015912139", 
          "https://doi.org/10.1007/s00439-006-0157-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-006-0157-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015912139", 
          "https://doi.org/10.1007/s00439-006-0157-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-006-0157-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015912139", 
          "https://doi.org/10.1007/s00439-006-0157-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.36149", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015921246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.36149", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015921246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.36149", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015921246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320380421", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017397956"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320380421", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017397956"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature10406", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017638562", 
          "https://doi.org/10.1038/nature10406"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.35761", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020541832"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci68035", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020831875"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jpeds.2009.06.045", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021027195"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<227::aid-ajmg10>3.0.co;2-q", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021711004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.b.31051", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025338668"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.b.31051", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025338668"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320550326", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026488665"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320550326", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026488665"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1523/jneurosci.5444-09.2010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031996040"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci68016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036949988"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10048-011-0306-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037516739", 
          "https://doi.org/10.1007/s10048-011-0306-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320590109", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038495626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320590109", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038495626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2006-2316", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039325223"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/bmj.320.7244.1240", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040321823"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddt559", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040336568"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci10660", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040573692"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2013.189", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041622530", 
          "https://doi.org/10.1038/ejhg.2013.189"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ijo.2013.188", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041960963", 
          "https://doi.org/10.1038/ijo.2013.188"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ijo.2013.188", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041960963", 
          "https://doi.org/10.1038/ijo.2013.188"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1053/ejpn.1999.0259", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042091197"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2007.00757.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042438919"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1984.tb01106.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042477906"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2005.04.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042553436"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1994.tb04018.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044190671"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.10001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046499996"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1755-8166-2-17", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048933824", 
          "https://doi.org/10.1186/1755-8166-2-17"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0036453", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051375605"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3343/kjlm.2010.30.1.84", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051647312"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3343/kjlm.2010.30.1.84", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051647312"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.33699", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052347340"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.33699", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052347340"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mcd.0b013e3281e668d5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052546012"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mcd.0b013e3281e668d5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052546012"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mcd.0b013e3281e668d5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052546012"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/9.1.101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052756152"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<377::aid-ajmg9>3.0.co;2-q", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053400570"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/en.2006-0453", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064248050"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077410675", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082072434", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082801046", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-08", 
    "datePublishedReg": "2015-08-01", 
    "description": "6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including the first patient with fetopathological data. This fetus showed dysmorphic facial features, cerebellar and cerebral migration defects with neuronal heterotopias, and fusion of brain nuclei. The size of the deletion in the 14 living patients ranged from 1.73 to 7.84\u2009Mb, and the fetus had the largest deletion (14\u2009Mb). Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the PWS-like phenotype. Nevertheless, only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1 haploinsufficiency. This study in the largest series reported to date confirms that the PWS-like phenotype is strongly linked to 6q16.2q16.3 deletions and varies considerably in its clinical expression. The possible involvement of other genes in the 6q16.2q16.3-deletion phenotype is discussed.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ejhg.2014.230", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "8", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "23"
      }
    ], 
    "name": "Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1", 
    "pagination": "1010-1018", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "b203886a3772cde2473069700669a8a1113bf41a2f14e65bb0f7a0a143760546"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "25351778"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9302235"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ejhg.2014.230"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1037369599"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ejhg.2014.230", 
      "https://app.dimensions.ai/details/publication/pub.1037369599"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T13:22", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8659_00000533.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/ejhg/journal/v23/n8/full/ejhg2014230a.html"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2014.230'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2014.230'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2014.230'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2014.230'


 

This table displays all metadata directly associated to this object as RDF triples.

620 TRIPLES      21 PREDICATES      102 URIs      40 LITERALS      28 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ejhg.2014.230 schema:about N093378303cdc47869411bb60e64d4a1a
2 N0c6da5ac537b4be5afec6283bd9c47ae
3 N19160ccd2ad5407ea98daa368322c11c
4 N29ab6c55ca844f05ae4a12f7894ab80f
5 N549775aa380d4ad5aabfe324410c2776
6 N5eba149553744287b5d36529be2cf06c
7 N64834e9f6f7a4baeb7d36eaa88a584bc
8 N79969d29854e4779b51a17e11a4338d7
9 N849397ad20ff49ad918c1c347d138f8a
10 N8e2b328abe934e23a13d55a34532a966
11 Na44cb3f1d5994ef695402a649401a348
12 Nad6b94cb82374d2cabf5324450881cab
13 Naf3cceb0e436432e959c8b783a2b86a4
14 Nb61306d2838441dda890c5339c48029b
15 Nbcadca1adbe64dee9e780b2e4c775ec3
16 Ncb9c6ca26f50427c877e8b1ccba38947
17 Nccd0945db5a644fe9f0af5a332da3c87
18 Ndfbe3df321a144baaed029a6f594c758
19 Nf632591b02924b39b1d16291b1e8cfcd
20 anzsrc-for:06
21 anzsrc-for:0604
22 schema:author N8c1369ac68a24f479670c489898b1679
23 schema:citation sg:pub.10.1007/bf03195240
24 sg:pub.10.1007/s00439-006-0157-6
25 sg:pub.10.1007/s10024-002-0036-7
26 sg:pub.10.1007/s10048-011-0306-5
27 sg:pub.10.1038/ejhg.2008.119
28 sg:pub.10.1038/ejhg.2011.182
29 sg:pub.10.1038/ejhg.2013.189
30 sg:pub.10.1038/gim.0b013e31822bead0
31 sg:pub.10.1038/ijo.2013.188
32 sg:pub.10.1038/nature10406
33 sg:pub.10.1186/1755-8166-2-17
34 https://app.dimensions.ai/details/publication/pub.1077410675
35 https://app.dimensions.ai/details/publication/pub.1082072434
36 https://app.dimensions.ai/details/publication/pub.1082801046
37 https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<377::aid-ajmg9>3.0.co;2-q
38 https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<227::aid-ajmg10>3.0.co;2-q
39 https://doi.org/10.1002/ajmg.1320380421
40 https://doi.org/10.1002/ajmg.1320550326
41 https://doi.org/10.1002/ajmg.1320590109
42 https://doi.org/10.1002/ajmg.a.10001
43 https://doi.org/10.1002/ajmg.a.20611
44 https://doi.org/10.1002/ajmg.a.30837
45 https://doi.org/10.1002/ajmg.a.32555
46 https://doi.org/10.1002/ajmg.a.33699
47 https://doi.org/10.1002/ajmg.a.35761
48 https://doi.org/10.1002/ajmg.a.36149
49 https://doi.org/10.1002/ajmg.b.31051
50 https://doi.org/10.1016/j.ejmg.2005.04.010
51 https://doi.org/10.1016/j.ejmg.2005.12.002
52 https://doi.org/10.1016/j.ejmg.2006.02.001
53 https://doi.org/10.1016/j.jpeds.2009.06.045
54 https://doi.org/10.1053/ejpn.1999.0259
55 https://doi.org/10.1080/17470919.2014.897995
56 https://doi.org/10.1093/hmg/9.1.101
57 https://doi.org/10.1093/hmg/ddt559
58 https://doi.org/10.1097/mcd.0b013e3281e668d5
59 https://doi.org/10.1111/j.1399-0004.1984.tb01106.x
60 https://doi.org/10.1111/j.1399-0004.1988.tb03453.x
61 https://doi.org/10.1111/j.1399-0004.1994.tb04018.x
62 https://doi.org/10.1111/j.1399-0004.1996.tb02368.x
63 https://doi.org/10.1111/j.1399-0004.2007.00757.x
64 https://doi.org/10.1111/j.1399-0004.2007.00960.x
65 https://doi.org/10.1111/j.1442-200x.2010.03090.x
66 https://doi.org/10.1136/bmj.320.7244.1240
67 https://doi.org/10.1136/jmg.39.8.594
68 https://doi.org/10.1172/jci10660
69 https://doi.org/10.1172/jci68016
70 https://doi.org/10.1172/jci68035
71 https://doi.org/10.1210/en.2006-0453
72 https://doi.org/10.1210/jc.2006-2316
73 https://doi.org/10.1371/journal.pone.0036453
74 https://doi.org/10.1523/jneurosci.5444-09.2010
75 https://doi.org/10.3109/15513819109064745
76 https://doi.org/10.3343/kjlm.2010.30.1.84
77 schema:datePublished 2015-08
78 schema:datePublishedReg 2015-08-01
79 schema:description 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including the first patient with fetopathological data. This fetus showed dysmorphic facial features, cerebellar and cerebral migration defects with neuronal heterotopias, and fusion of brain nuclei. The size of the deletion in the 14 living patients ranged from 1.73 to 7.84 Mb, and the fetus had the largest deletion (14 Mb). Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the PWS-like phenotype. Nevertheless, only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1 haploinsufficiency. This study in the largest series reported to date confirms that the PWS-like phenotype is strongly linked to 6q16.2q16.3 deletions and varies considerably in its clinical expression. The possible involvement of other genes in the 6q16.2q16.3-deletion phenotype is discussed.
80 schema:genre research_article
81 schema:inLanguage en
82 schema:isAccessibleForFree true
83 schema:isPartOf N5e762ed49e2e4c1ea8ea6dc54136dc0e
84 N9de6638d6cfa4ae0991b5b3fb89c385d
85 sg:journal.1103410
86 schema:name Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
87 schema:pagination 1010-1018
88 schema:productId N15c1374ceff440d7993ae11f23ea338a
89 N23c370b0a1604a3787d1d91c0d529fa8
90 Na2a0d69b8f704f268bf3bbdac7cc3d0c
91 Ne665b3f9f390490bbd21555b755317cb
92 Nef656f7c88274532b473af4837e64940
93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037369599
94 https://doi.org/10.1038/ejhg.2014.230
95 schema:sdDatePublished 2019-04-10T13:22
96 schema:sdLicense https://scigraph.springernature.com/explorer/license/
97 schema:sdPublisher N8f175a6840b54f9ba0f343153042c240
98 schema:url http://www.nature.com/ejhg/journal/v23/n8/full/ejhg2014230a.html
99 sgo:license sg:explorer/license/
100 sgo:sdDataset articles
101 rdf:type schema:ScholarlyArticle
102 N01643b865a4341d2b9c71f80597aedda rdf:first sg:person.01037134701.19
103 rdf:rest N914e382d4feb44fa867913c777711776
104 N0554dc60f13840d2ba31e64243e243f8 rdf:first sg:person.01045510107.07
105 rdf:rest Nb4b61bed9a0b48c1ad8e3c04aa5bb588
106 N0557bcbace3946479c18a3f66a140af9 schema:name 1] AP-HP, Groupe hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Cytogénétique, Paris, France [2] INSERM, U1016 Institut Cochin, CNRS UMR8104, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
107 rdf:type schema:Organization
108 N075eb6e5686648409702d3734d82030d rdf:first sg:person.0620117071.96
109 rdf:rest Nae46cec0830e4ce080cc03b6be9aa2e6
110 N093378303cdc47869411bb60e64d4a1a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Female
112 rdf:type schema:DefinedTerm
113 N0c6da5ac537b4be5afec6283bd9c47ae schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Adult
115 rdf:type schema:DefinedTerm
116 N11e3c440e585470fad103a948557d9cb rdf:first sg:person.01177147171.55
117 rdf:rest Nb8892a377a8d418cbd13a1926bf2d8a9
118 N1512ef70823d4902ae0cf9b7f35af7af rdf:first sg:person.01122477703.06
119 rdf:rest N075eb6e5686648409702d3734d82030d
120 N15c1374ceff440d7993ae11f23ea338a schema:name pubmed_id
121 schema:value 25351778
122 rdf:type schema:PropertyValue
123 N1810a1ca7f1e4cc09d4b4f83534d062c schema:affiliation Nb968a3c016cd42aabd49a10916ac561c
124 schema:familyName Baumann
125 schema:givenName Clarisse
126 rdf:type schema:Person
127 N19160ccd2ad5407ea98daa368322c11c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Male
129 rdf:type schema:DefinedTerm
130 N1961e08ab89d46eb9cde3e8a76b78ccc schema:name Département de Cytogénétique, Laboratoire Biomnis, Paris, France.
131 rdf:type schema:Organization
132 N1e6ec96005a346b8a2f734d83f56290b schema:name 1] AP-HP, Groupe hospitalier Cochin-Broca-Hôtel Dieu, Laboratoire de Cytogénétique, Paris, France [2] INSERM, U1016 Institut Cochin, CNRS UMR8104, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
133 rdf:type schema:Organization
134 N1eac78a3134b4b62bd788815700d5b0b rdf:first Nbc413799a9c246af9c94441b4f83cf99
135 rdf:rest N3802a675ca92472fa9b89508ad4e8d50
136 N23c370b0a1604a3787d1d91c0d529fa8 schema:name readcube_id
137 schema:value b203886a3772cde2473069700669a8a1113bf41a2f14e65bb0f7a0a143760546
138 rdf:type schema:PropertyValue
139 N2421d9be08324939b136a2992c69e996 rdf:first sg:person.01174310117.30
140 rdf:rest rdf:nil
141 N26655416ba4d4b6f978646ebaab42cf3 rdf:first sg:person.01153766207.64
142 rdf:rest N1512ef70823d4902ae0cf9b7f35af7af
143 N29ab6c55ca844f05ae4a12f7894ab80f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Chromosomes, Human, Pair 6
145 rdf:type schema:DefinedTerm
146 N2f155b8619334243939c62b29edb00f5 rdf:first sg:person.01266677015.42
147 rdf:rest N346daeb8300648d9acdec87db63104c5
148 N346daeb8300648d9acdec87db63104c5 rdf:first N50fc9fb0b8ce4fe293cded3c6b680cb1
149 rdf:rest Ncbca8c9a0d6348dca01827f164113860
150 N3643458b09d74226bbbafbdb9f4430ef schema:name Laboratoire de Génétique, EA 4002, CHU, Nancy-University, Nancy, France.
151 rdf:type schema:Organization
152 N3802a675ca92472fa9b89508ad4e8d50 rdf:first sg:person.01237661366.90
153 rdf:rest Nf020aa9bc2b74132abc56a564edb4fe7
154 N3a0fe55c1b93433b9c20b8cdfc8937fd schema:name 1] AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France.
155 rdf:type schema:Organization
156 N3fb2b3fccfa149b5b11a7b5a5d0ee02b rdf:first sg:person.01363667342.18
157 rdf:rest N49b531bccf514761b43dd0677c321415
158 N449b5ed2838045c6a138e9b949599908 rdf:first Nf807f65c2b1848f3a075d4757473f3a0
159 rdf:rest N26655416ba4d4b6f978646ebaab42cf3
160 N49b531bccf514761b43dd0677c321415 rdf:first sg:person.01250260537.05
161 rdf:rest N01643b865a4341d2b9c71f80597aedda
162 N50fc9fb0b8ce4fe293cded3c6b680cb1 schema:affiliation https://www.grid.ac/institutes/grid.457368.b
163 schema:familyName Pipiras
164 schema:givenName Eva
165 rdf:type schema:Person
166 N549775aa380d4ad5aabfe324410c2776 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Polymorphism, Single Nucleotide
168 rdf:type schema:DefinedTerm
169 N5e762ed49e2e4c1ea8ea6dc54136dc0e schema:issueNumber 8
170 rdf:type schema:PublicationIssue
171 N5eba149553744287b5d36529be2cf06c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
172 schema:name Comparative Genomic Hybridization
173 rdf:type schema:DefinedTerm
174 N6353f72fa37e439d9b8df82950f1d7be schema:affiliation https://www.grid.ac/institutes/grid.414271.5
175 schema:familyName Dubourg
176 schema:givenName Christelle
177 rdf:type schema:Person
178 N64834e9f6f7a4baeb7d36eaa88a584bc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
179 schema:name Penetrance
180 rdf:type schema:DefinedTerm
181 N65fbb2635deb4e27a3862284f88cab0e rdf:first sg:person.0701537353.17
182 rdf:rest N0554dc60f13840d2ba31e64243e243f8
183 N6c6aab0646eb45febaf1db3426cb4402 rdf:first sg:person.0642707313.31
184 rdf:rest Nab44d31ac87f477d83452985cdf57239
185 N786eae8f560248a396a0e608d62d85e5 rdf:first sg:person.01136447276.72
186 rdf:rest Neef8d1f6cc384e87927b232dc576df97
187 N79969d29854e4779b51a17e11a4338d7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
188 schema:name Basic Helix-Loop-Helix Transcription Factors
189 rdf:type schema:DefinedTerm
190 N7a74b31b90cb4c03ab465357dc300748 schema:name Centre de Génétique Chromosomique, Saint-Vincent de Paul, GHIC, Lille, France.
191 rdf:type schema:Organization
192 N8077000c6b5a4ff1938957f73551f5a4 schema:name 1] AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France [3] AP-HP, Hôpital Jean Verdier, Laboratoire d'Histologie-Embryologie-Cytogénétique-BDR-CECOS, Bondy, France [4] Université Paris 13, Sorbonne Paris Cité, UFR SMBH, Bobigny, France.
193 rdf:type schema:Organization
194 N849397ad20ff49ad918c1c347d138f8a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
195 schema:name Repressor Proteins
196 rdf:type schema:DefinedTerm
197 N88b4ad7ac7e84a22851d79ab29b91f2f rdf:first sg:person.0750760025.66
198 rdf:rest Nc458e6d10e624402b242a297948aae39
199 N8c1369ac68a24f479670c489898b1679 rdf:first sg:person.0733162106.42
200 rdf:rest N2f155b8619334243939c62b29edb00f5
201 N8de6624b8a2c4cc79271db1b5e4b1bb7 rdf:first sg:person.0673034447.13
202 rdf:rest N2421d9be08324939b136a2992c69e996
203 N8e2b328abe934e23a13d55a34532a966 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
204 schema:name Genetic Association Studies
205 rdf:type schema:DefinedTerm
206 N8f175a6840b54f9ba0f343153042c240 schema:name Springer Nature - SN SciGraph project
207 rdf:type schema:Organization
208 N8fa3b750663d475a89c3f32155a40791 schema:name AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France.
209 rdf:type schema:Organization
210 N914e382d4feb44fa867913c777711776 rdf:first sg:person.01005553513.33
211 rdf:rest N88b4ad7ac7e84a22851d79ab29b91f2f
212 N94e418dfa0c9475887f9c83bd26077a9 rdf:first sg:person.0750415674.41
213 rdf:rest Ne4ed4a180a3f4b7dab47bfcecdb86d1b
214 N966c50bfb0d54c728a651ac58e88ca1d schema:name 1] Clinical Genetics Department, Guy's Hospital, Great Maze Pond, London, UK [2] Service de Génétique Clinique, Hôpital Jeanne de Flandres, CHRU de Lille, Lille, France.
215 rdf:type schema:Organization
216 N9de6638d6cfa4ae0991b5b3fb89c385d schema:volumeNumber 23
217 rdf:type schema:PublicationVolume
218 N9fde8b66ad794fd8931d3b47193dfc0e schema:name AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France.
219 rdf:type schema:Organization
220 Na2a0d69b8f704f268bf3bbdac7cc3d0c schema:name dimensions_id
221 schema:value pub.1037369599
222 rdf:type schema:PropertyValue
223 Na35026920a844eaaaa95dc2d4249cbd1 rdf:first sg:person.01324145556.42
224 rdf:rest N3fb2b3fccfa149b5b11a7b5a5d0ee02b
225 Na44cb3f1d5994ef695402a649401a348 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
226 schema:name Prader-Willi Syndrome
227 rdf:type schema:DefinedTerm
228 Nab44d31ac87f477d83452985cdf57239 rdf:first Nba1b2d048a2c4ecb8b3748ba49fa4605
229 rdf:rest N449b5ed2838045c6a138e9b949599908
230 Nacd8efd7217f41c6a5d031bcfdf50393 schema:name Service de Pédiatrie, Centre Hospitalier de Dunkerque, Dunkerque, France.
231 rdf:type schema:Organization
232 Nad6b94cb82374d2cabf5324450881cab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
233 schema:name Obesity
234 rdf:type schema:DefinedTerm
235 Nae46cec0830e4ce080cc03b6be9aa2e6 rdf:first N6353f72fa37e439d9b8df82950f1d7be
236 rdf:rest N1eac78a3134b4b62bd788815700d5b0b
237 Naf3cceb0e436432e959c8b783a2b86a4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
238 schema:name Child, Preschool
239 rdf:type schema:DefinedTerm
240 Nb4b61bed9a0b48c1ad8e3c04aa5bb588 rdf:first Nb5bdfb1a77264909be61f62203d53c03
241 rdf:rest N8de6624b8a2c4cc79271db1b5e4b1bb7
242 Nb5bdfb1a77264909be61f62203d53c03 schema:affiliation N3a0fe55c1b93433b9c20b8cdfc8937fd
243 schema:familyName Verloes
244 schema:givenName Alain
245 rdf:type schema:Person
246 Nb61306d2838441dda890c5339c48029b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
247 schema:name Aborted Fetus
248 rdf:type schema:DefinedTerm
249 Nb8892a377a8d418cbd13a1926bf2d8a9 rdf:first sg:person.01242741602.49
250 rdf:rest Nf046bf8adc54456e8467d6ca2a000113
251 Nb968a3c016cd42aabd49a10916ac561c schema:name AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France.
252 rdf:type schema:Organization
253 Nba153e436ed7443fabfa5f1a1f31383c schema:name AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France.
254 rdf:type schema:Organization
255 Nba1b2d048a2c4ecb8b3748ba49fa4605 schema:affiliation Ne07458615f284462a51957d517476697
256 schema:familyName Delezoide
257 schema:givenName Anne-Lise
258 rdf:type schema:Person
259 Nbc413799a9c246af9c94441b4f83cf99 schema:affiliation Nba153e436ed7443fabfa5f1a1f31383c
260 schema:familyName Dupont
261 schema:givenName Céline
262 rdf:type schema:Person
263 Nbcadca1adbe64dee9e780b2e4c775ec3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
264 schema:name Adolescent
265 rdf:type schema:DefinedTerm
266 Nbef90e011a4640c5961569b8561e4124 rdf:first N1810a1ca7f1e4cc09d4b4f83534d062c
267 rdf:rest N6c6aab0646eb45febaf1db3426cb4402
268 Nc36c71f56f434295b824f19b5072dda3 rdf:first sg:person.01021375516.80
269 rdf:rest N94e418dfa0c9475887f9c83bd26077a9
270 Nc458e6d10e624402b242a297948aae39 rdf:first Nf7fd26cb93904718bce7ac38b3572e05
271 rdf:rest N65fbb2635deb4e27a3862284f88cab0e
272 Nc7ea962131454c4bbfda6fc96499209c schema:name 1] AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France.
273 rdf:type schema:Organization
274 Ncb9c6ca26f50427c877e8b1ccba38947 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
275 schema:name Child
276 rdf:type schema:DefinedTerm
277 Ncbca8c9a0d6348dca01827f164113860 rdf:first sg:person.0636124670.75
278 rdf:rest Nbef90e011a4640c5961569b8561e4124
279 Nccd0945db5a644fe9f0af5a332da3c87 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
280 schema:name Infant
281 rdf:type schema:DefinedTerm
282 Ndfbe3df321a144baaed029a6f594c758 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
283 schema:name Pregnancy
284 rdf:type schema:DefinedTerm
285 Ne07458615f284462a51957d517476697 schema:name 1] AP-HP, Département de Génétique et Service de Biologie du développement, Hôpital Robert Debré, Université Paris Diderot, Sorbonne Paris Cité, DHU PROTECT, Paris, France [2] INSERM, U1141, Paris, France.
286 rdf:type schema:Organization
287 Ne4ed4a180a3f4b7dab47bfcecdb86d1b rdf:first sg:person.01112505345.42
288 rdf:rest Nec98e0819b034e8888067e26b44e9af6
289 Ne665b3f9f390490bbd21555b755317cb schema:name doi
290 schema:value 10.1038/ejhg.2014.230
291 rdf:type schema:PropertyValue
292 Neb9a2bed337848dda22c896c3722cf49 rdf:first sg:person.01124032252.63
293 rdf:rest Nc36c71f56f434295b824f19b5072dda3
294 Nec98e0819b034e8888067e26b44e9af6 rdf:first sg:person.0746512170.53
295 rdf:rest Na35026920a844eaaaa95dc2d4249cbd1
296 Neef8d1f6cc384e87927b232dc576df97 rdf:first sg:person.0730113640.63
297 rdf:rest N11e3c440e585470fad103a948557d9cb
298 Nef656f7c88274532b473af4837e64940 schema:name nlm_unique_id
299 schema:value 9302235
300 rdf:type schema:PropertyValue
301 Nf020aa9bc2b74132abc56a564edb4fe7 rdf:first sg:person.01111077126.80
302 rdf:rest N786eae8f560248a396a0e608d62d85e5
303 Nf046bf8adc54456e8467d6ca2a000113 rdf:first sg:person.0723717433.52
304 rdf:rest Neb9a2bed337848dda22c896c3722cf49
305 Nf632591b02924b39b1d16291b1e8cfcd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
306 schema:name Humans
307 rdf:type schema:DefinedTerm
308 Nf7fd26cb93904718bce7ac38b3572e05 schema:affiliation Nacd8efd7217f41c6a5d031bcfdf50393
309 schema:familyName Vermelle
310 schema:givenName Marie
311 rdf:type schema:Person
312 Nf807f65c2b1848f3a075d4757473f3a0 schema:affiliation N7a74b31b90cb4c03ab465357dc300748
313 schema:familyName Delobel
314 schema:givenName Bruno
315 rdf:type schema:Person
316 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
317 schema:name Biological Sciences
318 rdf:type schema:DefinedTerm
319 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
320 schema:name Genetics
321 rdf:type schema:DefinedTerm
322 sg:journal.1103410 schema:issn 1018-4813
323 1476-5438
324 schema:name European Journal of Human Genetics
325 rdf:type schema:Periodical
326 sg:person.01005553513.33 schema:affiliation N9fde8b66ad794fd8931d3b47193dfc0e
327 schema:familyName Tabet
328 schema:givenName Anne-Claude
329 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01005553513.33
330 rdf:type schema:Person
331 sg:person.01021375516.80 schema:affiliation https://www.grid.ac/institutes/grid.411266.6
332 schema:familyName Missirian
333 schema:givenName Chantal
334 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021375516.80
335 rdf:type schema:Person
336 sg:person.01037134701.19 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
337 schema:familyName Romana
338 schema:givenName Serge
339 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037134701.19
340 rdf:type schema:Person
341 sg:person.01045510107.07 schema:affiliation N0557bcbace3946479c18a3f66a140af9
342 schema:familyName Dupont
343 schema:givenName Jean-Michel
344 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045510107.07
345 rdf:type schema:Person
346 sg:person.01111077126.80 schema:affiliation N966c50bfb0d54c728a651ac58e88ca1d
347 schema:familyName Holder-Espinasse
348 schema:givenName Muriel
349 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111077126.80
350 rdf:type schema:Person
351 sg:person.01112505345.42 schema:affiliation https://www.grid.ac/institutes/grid.411266.6
352 schema:familyName Moncla
353 schema:givenName Anne
354 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112505345.42
355 rdf:type schema:Person
356 sg:person.01122477703.06 schema:affiliation N1961e08ab89d46eb9cde3e8a76b78ccc
357 schema:familyName Dessuant
358 schema:givenName Hélène
359 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122477703.06
360 rdf:type schema:Person
361 sg:person.01124032252.63 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
362 schema:familyName Marle
363 schema:givenName Nathalie
364 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124032252.63
365 rdf:type schema:Person
366 sg:person.01136447276.72 schema:affiliation https://www.grid.ac/institutes/grid.414271.5
367 schema:familyName Jaillard
368 schema:givenName Sylvie
369 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136447276.72
370 rdf:type schema:Person
371 sg:person.01153766207.64 schema:affiliation https://www.grid.ac/institutes/grid.410368.8
372 schema:familyName Demurger
373 schema:givenName Florence
374 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153766207.64
375 rdf:type schema:Person
376 sg:person.01174310117.30 schema:affiliation https://www.grid.ac/institutes/grid.457368.b
377 schema:familyName Delahaye
378 schema:givenName Andrée
379 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174310117.30
380 rdf:type schema:Person
381 sg:person.01177147171.55 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
382 schema:familyName Lyonnet
383 schema:givenName Stanislas
384 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55
385 rdf:type schema:Person
386 sg:person.01237661366.90 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
387 schema:familyName Faivre
388 schema:givenName Laurence
389 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237661366.90
390 rdf:type schema:Person
391 sg:person.01242741602.49 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
392 schema:familyName Malan
393 schema:givenName Valérie
394 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242741602.49
395 rdf:type schema:Person
396 sg:person.01250260537.05 schema:affiliation https://www.grid.ac/institutes/grid.453925.c
397 schema:familyName Ravel
398 schema:givenName Aimé
399 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01250260537.05
400 rdf:type schema:Person
401 sg:person.01266677015.42 schema:affiliation Nc7ea962131454c4bbfda6fc96499209c
402 schema:familyName Guimiot
403 schema:givenName Fabien
404 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266677015.42
405 rdf:type schema:Person
406 sg:person.01324145556.42 schema:affiliation https://www.grid.ac/institutes/grid.413503.0
407 schema:familyName Palumbo
408 schema:givenName Orazio
409 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324145556.42
410 rdf:type schema:Person
411 sg:person.01363667342.18 schema:affiliation https://www.grid.ac/institutes/grid.413503.0
412 schema:familyName Palumbo
413 schema:givenName Pietro
414 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363667342.18
415 rdf:type schema:Person
416 sg:person.0620117071.96 schema:affiliation N8fa3b750663d475a89c3f32155a40791
417 schema:familyName Drunat
418 schema:givenName Séverine
419 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620117071.96
420 rdf:type schema:Person
421 sg:person.0636124670.75 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
422 schema:familyName Andrieux
423 schema:givenName Joris
424 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636124670.75
425 rdf:type schema:Person
426 sg:person.0642707313.31 schema:affiliation https://www.grid.ac/institutes/grid.414184.c
427 schema:familyName Bouquillon
428 schema:givenName Sonia
429 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642707313.31
430 rdf:type schema:Person
431 sg:person.0673034447.13 schema:affiliation N8077000c6b5a4ff1938957f73551f5a4
432 schema:familyName Benzacken
433 schema:givenName Brigitte
434 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673034447.13
435 rdf:type schema:Person
436 sg:person.0701537353.17 schema:affiliation https://www.grid.ac/institutes/grid.413503.0
437 schema:familyName Carella
438 schema:givenName Massimo
439 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701537353.17
440 rdf:type schema:Person
441 sg:person.0723717433.52 schema:affiliation https://www.grid.ac/institutes/grid.31151.37
442 schema:familyName Masurel
443 schema:givenName Alice
444 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723717433.52
445 rdf:type schema:Person
446 sg:person.0730113640.63 schema:affiliation https://www.grid.ac/institutes/grid.440367.2
447 schema:familyName Journel
448 schema:givenName Hubert
449 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730113640.63
450 rdf:type schema:Person
451 sg:person.0733162106.42 schema:affiliation N1e6ec96005a346b8a2f734d83f56290b
452 schema:familyName El Khattabi
453 schema:givenName Laïla
454 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0733162106.42
455 rdf:type schema:Person
456 sg:person.0746512170.53 schema:affiliation https://www.grid.ac/institutes/grid.410368.8
457 schema:familyName Odent
458 schema:givenName Sylvie
459 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746512170.53
460 rdf:type schema:Person
461 sg:person.0750415674.41 schema:affiliation https://www.grid.ac/institutes/grid.410463.4
462 schema:familyName Moerman
463 schema:givenName Alexandre
464 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750415674.41
465 rdf:type schema:Person
466 sg:person.0750760025.66 schema:affiliation N3643458b09d74226bbbafbdb9f4430ef
467 schema:familyName Valduga
468 schema:givenName Mylène
469 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0750760025.66
470 rdf:type schema:Person
471 sg:pub.10.1007/bf03195240 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004715925
472 https://doi.org/10.1007/bf03195240
473 rdf:type schema:CreativeWork
474 sg:pub.10.1007/s00439-006-0157-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015912139
475 https://doi.org/10.1007/s00439-006-0157-6
476 rdf:type schema:CreativeWork
477 sg:pub.10.1007/s10024-002-0036-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007588098
478 https://doi.org/10.1007/s10024-002-0036-7
479 rdf:type schema:CreativeWork
480 sg:pub.10.1007/s10048-011-0306-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037516739
481 https://doi.org/10.1007/s10048-011-0306-5
482 rdf:type schema:CreativeWork
483 sg:pub.10.1038/ejhg.2008.119 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006685155
484 https://doi.org/10.1038/ejhg.2008.119
485 rdf:type schema:CreativeWork
486 sg:pub.10.1038/ejhg.2011.182 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003142051
487 https://doi.org/10.1038/ejhg.2011.182
488 rdf:type schema:CreativeWork
489 sg:pub.10.1038/ejhg.2013.189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041622530
490 https://doi.org/10.1038/ejhg.2013.189
491 rdf:type schema:CreativeWork
492 sg:pub.10.1038/gim.0b013e31822bead0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001334624
493 https://doi.org/10.1038/gim.0b013e31822bead0
494 rdf:type schema:CreativeWork
495 sg:pub.10.1038/ijo.2013.188 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041960963
496 https://doi.org/10.1038/ijo.2013.188
497 rdf:type schema:CreativeWork
498 sg:pub.10.1038/nature10406 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017638562
499 https://doi.org/10.1038/nature10406
500 rdf:type schema:CreativeWork
501 sg:pub.10.1186/1755-8166-2-17 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048933824
502 https://doi.org/10.1186/1755-8166-2-17
503 rdf:type schema:CreativeWork
504 https://app.dimensions.ai/details/publication/pub.1077410675 schema:CreativeWork
505 https://app.dimensions.ai/details/publication/pub.1082072434 schema:CreativeWork
506 https://app.dimensions.ai/details/publication/pub.1082801046 schema:CreativeWork
507 https://doi.org/10.1002/(sici)1096-8628(19970627)70:4<377::aid-ajmg9>3.0.co;2-q schema:sameAs https://app.dimensions.ai/details/publication/pub.1053400570
508 rdf:type schema:CreativeWork
509 https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<227::aid-ajmg10>3.0.co;2-q schema:sameAs https://app.dimensions.ai/details/publication/pub.1021711004
510 rdf:type schema:CreativeWork
511 https://doi.org/10.1002/ajmg.1320380421 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017397956
512 rdf:type schema:CreativeWork
513 https://doi.org/10.1002/ajmg.1320550326 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026488665
514 rdf:type schema:CreativeWork
515 https://doi.org/10.1002/ajmg.1320590109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038495626
516 rdf:type schema:CreativeWork
517 https://doi.org/10.1002/ajmg.a.10001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046499996
518 rdf:type schema:CreativeWork
519 https://doi.org/10.1002/ajmg.a.20611 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013601125
520 rdf:type schema:CreativeWork
521 https://doi.org/10.1002/ajmg.a.30837 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006775168
522 rdf:type schema:CreativeWork
523 https://doi.org/10.1002/ajmg.a.32555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003419858
524 rdf:type schema:CreativeWork
525 https://doi.org/10.1002/ajmg.a.33699 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052347340
526 rdf:type schema:CreativeWork
527 https://doi.org/10.1002/ajmg.a.35761 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020541832
528 rdf:type schema:CreativeWork
529 https://doi.org/10.1002/ajmg.a.36149 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015921246
530 rdf:type schema:CreativeWork
531 https://doi.org/10.1002/ajmg.b.31051 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025338668
532 rdf:type schema:CreativeWork
533 https://doi.org/10.1016/j.ejmg.2005.04.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042553436
534 rdf:type schema:CreativeWork
535 https://doi.org/10.1016/j.ejmg.2005.12.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007164900
536 rdf:type schema:CreativeWork
537 https://doi.org/10.1016/j.ejmg.2006.02.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002445450
538 rdf:type schema:CreativeWork
539 https://doi.org/10.1016/j.jpeds.2009.06.045 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021027195
540 rdf:type schema:CreativeWork
541 https://doi.org/10.1053/ejpn.1999.0259 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042091197
542 rdf:type schema:CreativeWork
543 https://doi.org/10.1080/17470919.2014.897995 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007708567
544 rdf:type schema:CreativeWork
545 https://doi.org/10.1093/hmg/9.1.101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052756152
546 rdf:type schema:CreativeWork
547 https://doi.org/10.1093/hmg/ddt559 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040336568
548 rdf:type schema:CreativeWork
549 https://doi.org/10.1097/mcd.0b013e3281e668d5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052546012
550 rdf:type schema:CreativeWork
551 https://doi.org/10.1111/j.1399-0004.1984.tb01106.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1042477906
552 rdf:type schema:CreativeWork
553 https://doi.org/10.1111/j.1399-0004.1988.tb03453.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1006567471
554 rdf:type schema:CreativeWork
555 https://doi.org/10.1111/j.1399-0004.1994.tb04018.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1044190671
556 rdf:type schema:CreativeWork
557 https://doi.org/10.1111/j.1399-0004.1996.tb02368.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1008406808
558 rdf:type schema:CreativeWork
559 https://doi.org/10.1111/j.1399-0004.2007.00757.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1042438919
560 rdf:type schema:CreativeWork
561 https://doi.org/10.1111/j.1399-0004.2007.00960.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1013161614
562 rdf:type schema:CreativeWork
563 https://doi.org/10.1111/j.1442-200x.2010.03090.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1011141701
564 rdf:type schema:CreativeWork
565 https://doi.org/10.1136/bmj.320.7244.1240 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040321823
566 rdf:type schema:CreativeWork
567 https://doi.org/10.1136/jmg.39.8.594 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014914547
568 rdf:type schema:CreativeWork
569 https://doi.org/10.1172/jci10660 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040573692
570 rdf:type schema:CreativeWork
571 https://doi.org/10.1172/jci68016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036949988
572 rdf:type schema:CreativeWork
573 https://doi.org/10.1172/jci68035 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020831875
574 rdf:type schema:CreativeWork
575 https://doi.org/10.1210/en.2006-0453 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064248050
576 rdf:type schema:CreativeWork
577 https://doi.org/10.1210/jc.2006-2316 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039325223
578 rdf:type schema:CreativeWork
579 https://doi.org/10.1371/journal.pone.0036453 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051375605
580 rdf:type schema:CreativeWork
581 https://doi.org/10.1523/jneurosci.5444-09.2010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031996040
582 rdf:type schema:CreativeWork
583 https://doi.org/10.3109/15513819109064745 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005444298
584 rdf:type schema:CreativeWork
585 https://doi.org/10.3343/kjlm.2010.30.1.84 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051647312
586 rdf:type schema:CreativeWork
587 https://www.grid.ac/institutes/grid.31151.37 schema:alternateName Centre Hospitalier Regional Universitaire De Dijon
588 schema:name Centre de référence Anomalies du développement et Syndromes Malformatifs de l'Interrégion Est, Hôpital d'Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France.
589 rdf:type schema:Organization
590 https://www.grid.ac/institutes/grid.410368.8 schema:alternateName University of Rennes 1
591 schema:name Service de Génétique Clinique CLAD-Ouest-CHU Rennes, université Rennes1, Rennes, France.
592 rdf:type schema:Organization
593 https://www.grid.ac/institutes/grid.410463.4 schema:alternateName Centre Hospitalier Regional et Universitaire de Lille
594 schema:name Service de Génétique Clinique, Hôpital Jeanne de Flandres, CHRU de Lille, Lille, France.
595 rdf:type schema:Organization
596 https://www.grid.ac/institutes/grid.411266.6 schema:alternateName Hôpital de la Timone
597 schema:name Laboratoire de Génétique Chromosomique, CHU Timone enfants, AP-HM, Marseille, France.
598 rdf:type schema:Organization
599 https://www.grid.ac/institutes/grid.412134.1 schema:alternateName Necker-Enfants Malades Hospital
600 schema:name Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Hôpital Necker-Enfants Malades, INSERM U-1163, Paris, France.
601 rdf:type schema:Organization
602 https://www.grid.ac/institutes/grid.413503.0 schema:alternateName Casa Sollievo della Sofferenza
603 schema:name Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
604 rdf:type schema:Organization
605 https://www.grid.ac/institutes/grid.414184.c schema:alternateName Hôpital Jeanne de Flandre
606 schema:name Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France.
607 rdf:type schema:Organization
608 https://www.grid.ac/institutes/grid.414271.5 schema:alternateName l'Hôpital Pontchaillou
609 schema:name Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.
610 Laboratoire de Génétique Moléculaire, CHU Pontchaillou, UMR 6290 CNRS, IGDR, Faculté de Médecine, Université de Rennes 1, Rennes, France.
611 rdf:type schema:Organization
612 https://www.grid.ac/institutes/grid.440367.2 schema:alternateName Centre hospitalier Bretagne Atlantique
613 schema:name Service de Génétique Médicale, Centre Hospitalier Bretagne Atlantique, Vannes, France.
614 rdf:type schema:Organization
615 https://www.grid.ac/institutes/grid.453925.c schema:alternateName Fondation Jérôme-Lejeune
616 schema:name Institut Jérôme Lejeune, Paris, France.
617 rdf:type schema:Organization
618 https://www.grid.ac/institutes/grid.457368.b schema:alternateName Délégation Paris 7
619 schema:name 1] INSERM, U1141, Paris, France [2] AP-HP, Hôpital Jean Verdier, Laboratoire d'Histologie-Embryologie-Cytogénétique-BDR-CECOS, Bondy, France [3] Université Paris 13, Sorbonne Paris Cité, UFR SMBH, Bobigny, France.
620 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...