Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-09

AUTHORS

Charles Shaw-Smith, Alan M Pittman, Lionel Willatt, Howard Martin, Lisa Rickman, Susan Gribble, Rebecca Curley, Sally Cumming, Carolyn Dunn, Dimitrios Kalaitzopoulos, Keith Porter, Elena Prigmore, Ana C V Krepischi-Santos, Monica C Varela, Celia P Koiffmann, Andrew J Lees, Carla Rosenberg, Helen V Firth, Rohan de Silva, Nigel P Carter

ABSTRACT

Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals with mental retardation and dysmorphic features. Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH. FISH analysis demonstrated that the deletions occurred as de novo events in each individual and were between 500 kb and 650 kb in size. A recently described 900-kb inversion that suppresses recombination between ancestral H1 and H2 haplotypes encompasses the deletion. We show that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome. This region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs). The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination. More... »

PAGES

1032-1037

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1858

DOI

http://dx.doi.org/10.1038/ng1858

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041756292

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16906163


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": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Inversion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 17", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Developmental Disabilities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Markers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heterozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "In Situ Hybridization, Fluorescence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Learning Disorders", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nucleic Acid Hybridization", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Physical Chromosome Mapping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Repetitive Sequences, Nucleic Acid", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "tau Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Addenbrooke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.120073.7", 
          "name": [
            "University of Cambridge Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shaw-Smith", 
        "givenName": "Charles", 
        "id": "sg:person.0705736517.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705736517.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Reta Lila Weston Institute of Neurological Studies, University College London, 1 Wakefield Street, London, WC1N 1PJ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pittman", 
        "givenName": "Alan M", 
        "id": "sg:person.01000634420.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000634420.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Addenbrooke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.120073.7", 
          "name": [
            "Regional Cytogenetics Laboratory, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Willatt", 
        "givenName": "Lionel", 
        "id": "sg:person.01044505351.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044505351.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Addenbrooke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.120073.7", 
          "name": [
            "Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Martin", 
        "givenName": "Howard", 
        "id": "sg:person.01156257251.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156257251.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Addenbrooke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.120073.7", 
          "name": [
            "University of Cambridge Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rickman", 
        "givenName": "Lisa", 
        "id": "sg:person.01167700506.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167700506.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gribble", 
        "givenName": "Susan", 
        "id": "sg:person.0743143032.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743143032.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Curley", 
        "givenName": "Rebecca", 
        "id": "sg:person.01340621051.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340621051.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Addenbrooke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.120073.7", 
          "name": [
            "Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cumming", 
        "givenName": "Sally", 
        "id": "sg:person.0615214751.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615214751.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Addenbrooke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.120073.7", 
          "name": [
            "Regional Cytogenetics Laboratory, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dunn", 
        "givenName": "Carolyn", 
        "id": "sg:person.01020701473.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020701473.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kalaitzopoulos", 
        "givenName": "Dimitrios", 
        "id": "sg:person.0610626650.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610626650.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Porter", 
        "givenName": "Keith", 
        "id": "sg:person.01137756536.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01137756536.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Prigmore", 
        "givenName": "Elena", 
        "id": "sg:person.01331467005.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331467005.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.11899.38", 
          "name": [
            "Department of Genetics and Evolutionary Biology, University of S\u00e3o Paolo, PO Box 11461, 05422-970 S\u00e3o Paolo, Brazil."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krepischi-Santos", 
        "givenName": "Ana C V", 
        "id": "sg:person.01120126665.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01120126665.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.11899.38", 
          "name": [
            "Human Genome Research Centre, University of S\u00e3o Paolo, 05508-090 S\u00e3o Paolo, Brazil."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Varela", 
        "givenName": "Monica C", 
        "id": "sg:person.0666711727.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666711727.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.11899.38", 
          "name": [
            "Human Genome Research Centre, University of S\u00e3o Paolo, 05508-090 S\u00e3o Paolo, Brazil."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koiffmann", 
        "givenName": "Celia P", 
        "id": "sg:person.01166451523.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166451523.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Reta Lila Weston Institute of Neurological Studies, University College London, 1 Wakefield Street, London, WC1N 1PJ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lees", 
        "givenName": "Andrew J", 
        "id": "sg:person.013507037162.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013507037162.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Sao Paulo", 
          "id": "https://www.grid.ac/institutes/grid.11899.38", 
          "name": [
            "Department of Genetics and Evolutionary Biology, University of S\u00e3o Paolo, PO Box 11461, 05422-970 S\u00e3o Paolo, Brazil."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rosenberg", 
        "givenName": "Carla", 
        "id": "sg:person.01144373056.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144373056.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Addenbrooke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.120073.7", 
          "name": [
            "University of Cambridge Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Firth", 
        "givenName": "Helen V", 
        "id": "sg:person.0673751210.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673751210.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Reta Lila Weston Institute of Neurological Studies, University College London, 1 Wakefield Street, London, WC1N 1PJ, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "de Silva", 
        "givenName": "Rohan", 
        "id": "sg:person.016574624324.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016574624324.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Carter", 
        "givenName": "Nigel P", 
        "id": "sg:person.01326464676.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326464676.90"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/s0168-9525(02)02592-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000179704"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000865004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/8.4.711", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003910455"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(99)03070-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005415583"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.10270", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006629198"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000091934", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006781546"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0295-132", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006842876", 
          "https://doi.org/10.1038/ng0295-132"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2005.032268", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007225487"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/8.12.2285", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007986952"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0304-3940(99)00964-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008812691"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.96.10.5598", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010483833"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1508", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014662746", 
          "https://doi.org/10.1038/ng1508"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1508", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014662746", 
          "https://doi.org/10.1038/ng1508"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.neulet.2004.05.119", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016832851"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddi241", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017635734"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2164-2-11", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018799770", 
          "https://doi.org/10.1186/1471-2164-2-11"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/369488a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019273688", 
          "https://doi.org/10.1038/369488a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/01.gim.0000170992.63691.32", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026946876", 
          "https://doi.org/10.1097/01.gim.0000170992.63691.32"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1097/01.gim.0000170992.63691.32", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026946876", 
          "https://doi.org/10.1097/01.gim.0000170992.63691.32"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/31508", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030318669", 
          "https://doi.org/10.1038/31508"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/31508", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030318669", 
          "https://doi.org/10.1038/31508"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1993.tb03893.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030915975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2005.031377", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030963100"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/exnr.1999.7227", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031857704"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bst0330582", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032812745"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bst0330582", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032812745"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddg101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033858106"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddh138", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045087840"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddi182", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045298195"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2003.017731", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052400097"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/379977", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058672442"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/426950", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058714948"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/0471695998", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1109491807"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1109491807", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1109491807", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1109491807", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-09", 
    "datePublishedReg": "2006-09-01", 
    "description": "Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals with mental retardation and dysmorphic features. Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH. FISH analysis demonstrated that the deletions occurred as de novo events in each individual and were between 500 kb and 650 kb in size. A recently described 900-kb inversion that suppresses recombination between ancestral H1 and H2 haplotypes encompasses the deletion. We show that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome. This region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs). The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1858", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2756968", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "9", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "38"
      }
    ], 
    "name": "Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability", 
    "pagination": "1032-1037", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "c6e889bb3ed4d22a946fbb642f628032b19139a9cd092741acfefb05b5220e3d"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16906163"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1858"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1041756292"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1858", 
      "https://app.dimensions.ai/details/publication/pub.1041756292"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:28", 
    "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/v90/0000000362_0000000362/records_87119_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1858"
  }
]
 

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/ng1858'

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/ng1858'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1858'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1858'


 

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

391 TRIPLES      21 PREDICATES      79 URIs      41 LITERALS      29 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1858 schema:about N082de0fbef4a40769b31710a6de2afbb
2 N10ea2717869241898d092d46722b4eef
3 N3989523fa25f4209891789add41c81fe
4 N3a896d934aad49899c0fdc210fc7cd14
5 N3e9802011af3405c87af07d1024cac05
6 N459074f0129b409db5a5995eee5de38c
7 N4c363b2e5ef34bf0abc041fd91cef361
8 N5abd329ec4834634a7f46d4ccc542201
9 N5d17812b46474bbbaceb249694563dd9
10 N60b322e1458a4e1d93e2e29a3912acc9
11 N61dd1a0954db45f386202a2f87f7550c
12 N7b13ee20e0de4434939b17d079c09c54
13 N86c0c92032194608a147c787bd85a8ab
14 N8ee0bba608944bbc8959903f0882b15a
15 N99f9462eba384952bfd1658f4884dc9c
16 N9b2acefd44544e5a8e2d0b290d460197
17 Ncd88255e19c74f5c907dbb2ebb163ccd
18 Nd15aa120abce497aa07eba0f9631ee81
19 Nf5629daad1854a0f94f765ff685326c3
20 Nf90d85ca8a4f4c39bb7fd0503ae4eb4d
21 anzsrc-for:06
22 anzsrc-for:0604
23 schema:author Nf2cde4556f25415188dae695f33829e8
24 schema:citation sg:pub.10.1038/31508
25 sg:pub.10.1038/369488a0
26 sg:pub.10.1038/ng0295-132
27 sg:pub.10.1038/ng1508
28 sg:pub.10.1097/01.gim.0000170992.63691.32
29 sg:pub.10.1186/1471-2164-2-11
30 https://app.dimensions.ai/details/publication/pub.1109491807
31 https://doi.org/10.1002/0471695998
32 https://doi.org/10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c
33 https://doi.org/10.1002/humu.10270
34 https://doi.org/10.1006/exnr.1999.7227
35 https://doi.org/10.1016/j.neulet.2004.05.119
36 https://doi.org/10.1016/s0140-6736(99)03070-6
37 https://doi.org/10.1016/s0168-9525(02)02592-1
38 https://doi.org/10.1016/s0304-3940(99)00964-7
39 https://doi.org/10.1042/bst0330582
40 https://doi.org/10.1073/pnas.96.10.5598
41 https://doi.org/10.1086/379977
42 https://doi.org/10.1086/426950
43 https://doi.org/10.1093/hmg/8.12.2285
44 https://doi.org/10.1093/hmg/8.4.711
45 https://doi.org/10.1093/hmg/ddg101
46 https://doi.org/10.1093/hmg/ddh138
47 https://doi.org/10.1093/hmg/ddi182
48 https://doi.org/10.1093/hmg/ddi241
49 https://doi.org/10.1111/j.1399-0004.1993.tb03893.x
50 https://doi.org/10.1136/jmg.2003.017731
51 https://doi.org/10.1136/jmg.2005.031377
52 https://doi.org/10.1136/jmg.2005.032268
53 https://doi.org/10.1159/000091934
54 schema:datePublished 2006-09
55 schema:datePublishedReg 2006-09-01
56 schema:description Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals with mental retardation and dysmorphic features. Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH. FISH analysis demonstrated that the deletions occurred as de novo events in each individual and were between 500 kb and 650 kb in size. A recently described 900-kb inversion that suppresses recombination between ancestral H1 and H2 haplotypes encompasses the deletion. We show that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome. This region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs). The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination.
57 schema:genre research_article
58 schema:inLanguage en
59 schema:isAccessibleForFree false
60 schema:isPartOf N4a928d46eef64b7e9026c5fa0839ca6f
61 Ned940caad70949ba8c9a1f9308a54847
62 sg:journal.1103138
63 schema:name Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
64 schema:pagination 1032-1037
65 schema:productId N0906ac22c9344d4f9c6f4ced06b7aebc
66 N37285892b0954d2da2be43ba739e869a
67 N4b64348c9b4c4926b55f9a2a10dfd05b
68 N7ef211d1afe949298c8ceec7a698458d
69 N9ac14eb32e4342d2a44e53896af4617f
70 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041756292
71 https://doi.org/10.1038/ng1858
72 schema:sdDatePublished 2019-04-11T12:28
73 schema:sdLicense https://scigraph.springernature.com/explorer/license/
74 schema:sdPublisher N88781d9df8194145a1f0a0c6bab598d0
75 schema:url http://www.nature.com/articles/ng1858
76 sgo:license sg:explorer/license/
77 sgo:sdDataset articles
78 rdf:type schema:ScholarlyArticle
79 N0357935d29f8416483cc1b8879f8c1cc rdf:first sg:person.0610626650.06
80 rdf:rest N8bc084e8337c4e8b9fd4b5589e6dc6ce
81 N05580a1e416d42819562cf74bb8ce88c rdf:first sg:person.01167700506.17
82 rdf:rest N3640cd3e569d406e89db31ca36091668
83 N082de0fbef4a40769b31710a6de2afbb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Polymorphism, Single Nucleotide
85 rdf:type schema:DefinedTerm
86 N0906ac22c9344d4f9c6f4ced06b7aebc schema:name readcube_id
87 schema:value c6e889bb3ed4d22a946fbb642f628032b19139a9cd092741acfefb05b5220e3d
88 rdf:type schema:PropertyValue
89 N10ea2717869241898d092d46722b4eef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Repetitive Sequences, Nucleic Acid
91 rdf:type schema:DefinedTerm
92 N173dbdb75fe24c00877de95e6ba4be09 rdf:first sg:person.01120126665.26
93 rdf:rest N678edc1cfa52416c9dfbbd9835cbbff3
94 N269963b262fb472bbf1ae97d3cf7380d rdf:first sg:person.016574624324.28
95 rdf:rest N2feec8ebb7f845c4b776cdabad1f7e8a
96 N2feec8ebb7f845c4b776cdabad1f7e8a rdf:first sg:person.01326464676.90
97 rdf:rest rdf:nil
98 N3640cd3e569d406e89db31ca36091668 rdf:first sg:person.0743143032.11
99 rdf:rest Nd52c00021e3f472494280e61aa3ec851
100 N37285892b0954d2da2be43ba739e869a schema:name nlm_unique_id
101 schema:value 9216904
102 rdf:type schema:PropertyValue
103 N3989523fa25f4209891789add41c81fe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Male
105 rdf:type schema:DefinedTerm
106 N3a896d934aad49899c0fdc210fc7cd14 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name tau Proteins
108 rdf:type schema:DefinedTerm
109 N3e9802011af3405c87af07d1024cac05 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Adult
111 rdf:type schema:DefinedTerm
112 N43143c25812245dcb62d1a504f53ecdb rdf:first sg:person.01000634420.06
113 rdf:rest N47f6ff298ebb4c8fbf8fc2e6e10f6e3b
114 N459074f0129b409db5a5995eee5de38c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Haplotypes
116 rdf:type schema:DefinedTerm
117 N47f6ff298ebb4c8fbf8fc2e6e10f6e3b rdf:first sg:person.01044505351.58
118 rdf:rest Ne350ad8dd52943e6b7e65f797990aa6e
119 N4a928d46eef64b7e9026c5fa0839ca6f schema:issueNumber 9
120 rdf:type schema:PublicationIssue
121 N4b64348c9b4c4926b55f9a2a10dfd05b schema:name pubmed_id
122 schema:value 16906163
123 rdf:type schema:PropertyValue
124 N4c0401f33e794cceb559ccc505770482 rdf:first sg:person.01020701473.92
125 rdf:rest N0357935d29f8416483cc1b8879f8c1cc
126 N4c363b2e5ef34bf0abc041fd91cef361 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Developmental Disabilities
128 rdf:type schema:DefinedTerm
129 N4ea4d9bf91e747bdba85d562f2c23825 rdf:first sg:person.0615214751.03
130 rdf:rest N4c0401f33e794cceb559ccc505770482
131 N5abd329ec4834634a7f46d4ccc542201 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Adolescent
133 rdf:type schema:DefinedTerm
134 N5d17812b46474bbbaceb249694563dd9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Heterozygote
136 rdf:type schema:DefinedTerm
137 N60b322e1458a4e1d93e2e29a3912acc9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Nucleic Acid Hybridization
139 rdf:type schema:DefinedTerm
140 N61dd1a0954db45f386202a2f87f7550c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Genetic Markers
142 rdf:type schema:DefinedTerm
143 N678edc1cfa52416c9dfbbd9835cbbff3 rdf:first sg:person.0666711727.97
144 rdf:rest N914d5cec42d947629d2fdbfd7ca7bf54
145 N7b13ee20e0de4434939b17d079c09c54 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name In Situ Hybridization, Fluorescence
147 rdf:type schema:DefinedTerm
148 N7ef211d1afe949298c8ceec7a698458d schema:name dimensions_id
149 schema:value pub.1041756292
150 rdf:type schema:PropertyValue
151 N86c0c92032194608a147c787bd85a8ab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Physical Chromosome Mapping
153 rdf:type schema:DefinedTerm
154 N88781d9df8194145a1f0a0c6bab598d0 schema:name Springer Nature - SN SciGraph project
155 rdf:type schema:Organization
156 N8bc084e8337c4e8b9fd4b5589e6dc6ce rdf:first sg:person.01137756536.08
157 rdf:rest Nebfc61970687472dbf0bfd803ee869d6
158 N8ee0bba608944bbc8959903f0882b15a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Humans
160 rdf:type schema:DefinedTerm
161 N914d5cec42d947629d2fdbfd7ca7bf54 rdf:first sg:person.01166451523.14
162 rdf:rest Nd659ed3103c34644a14096eea6dcea8e
163 N99f9462eba384952bfd1658f4884dc9c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
164 schema:name Chromosomes, Human, Pair 17
165 rdf:type schema:DefinedTerm
166 N9ac14eb32e4342d2a44e53896af4617f schema:name doi
167 schema:value 10.1038/ng1858
168 rdf:type schema:PropertyValue
169 N9b2acefd44544e5a8e2d0b290d460197 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Learning Disorders
171 rdf:type schema:DefinedTerm
172 Ncd88255e19c74f5c907dbb2ebb163ccd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Chromosome Inversion
174 rdf:type schema:DefinedTerm
175 Nd15aa120abce497aa07eba0f9631ee81 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
176 schema:name Child, Preschool
177 rdf:type schema:DefinedTerm
178 Nd52c00021e3f472494280e61aa3ec851 rdf:first sg:person.01340621051.74
179 rdf:rest N4ea4d9bf91e747bdba85d562f2c23825
180 Nd659ed3103c34644a14096eea6dcea8e rdf:first sg:person.013507037162.59
181 rdf:rest Nf0641b4e2d824317b4d1eba4b2f056e7
182 Ne350ad8dd52943e6b7e65f797990aa6e rdf:first sg:person.01156257251.22
183 rdf:rest N05580a1e416d42819562cf74bb8ce88c
184 Ne761234b5a9f4dc99bfd7978fab2e4ff rdf:first sg:person.0673751210.83
185 rdf:rest N269963b262fb472bbf1ae97d3cf7380d
186 Nebfc61970687472dbf0bfd803ee869d6 rdf:first sg:person.01331467005.97
187 rdf:rest N173dbdb75fe24c00877de95e6ba4be09
188 Ned940caad70949ba8c9a1f9308a54847 schema:volumeNumber 38
189 rdf:type schema:PublicationVolume
190 Nf0641b4e2d824317b4d1eba4b2f056e7 rdf:first sg:person.01144373056.15
191 rdf:rest Ne761234b5a9f4dc99bfd7978fab2e4ff
192 Nf2cde4556f25415188dae695f33829e8 rdf:first sg:person.0705736517.05
193 rdf:rest N43143c25812245dcb62d1a504f53ecdb
194 Nf5629daad1854a0f94f765ff685326c3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
195 schema:name Chromosome Deletion
196 rdf:type schema:DefinedTerm
197 Nf90d85ca8a4f4c39bb7fd0503ae4eb4d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
198 schema:name Female
199 rdf:type schema:DefinedTerm
200 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
201 schema:name Biological Sciences
202 rdf:type schema:DefinedTerm
203 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
204 schema:name Genetics
205 rdf:type schema:DefinedTerm
206 sg:grant.2756968 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1858
207 rdf:type schema:MonetaryGrant
208 sg:journal.1103138 schema:issn 1061-4036
209 1546-1718
210 schema:name Nature Genetics
211 rdf:type schema:Periodical
212 sg:person.01000634420.06 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
213 schema:familyName Pittman
214 schema:givenName Alan M
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000634420.06
216 rdf:type schema:Person
217 sg:person.01020701473.92 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
218 schema:familyName Dunn
219 schema:givenName Carolyn
220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020701473.92
221 rdf:type schema:Person
222 sg:person.01044505351.58 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
223 schema:familyName Willatt
224 schema:givenName Lionel
225 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044505351.58
226 rdf:type schema:Person
227 sg:person.01120126665.26 schema:affiliation https://www.grid.ac/institutes/grid.11899.38
228 schema:familyName Krepischi-Santos
229 schema:givenName Ana C V
230 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01120126665.26
231 rdf:type schema:Person
232 sg:person.01137756536.08 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
233 schema:familyName Porter
234 schema:givenName Keith
235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01137756536.08
236 rdf:type schema:Person
237 sg:person.01144373056.15 schema:affiliation https://www.grid.ac/institutes/grid.11899.38
238 schema:familyName Rosenberg
239 schema:givenName Carla
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144373056.15
241 rdf:type schema:Person
242 sg:person.01156257251.22 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
243 schema:familyName Martin
244 schema:givenName Howard
245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156257251.22
246 rdf:type schema:Person
247 sg:person.01166451523.14 schema:affiliation https://www.grid.ac/institutes/grid.11899.38
248 schema:familyName Koiffmann
249 schema:givenName Celia P
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166451523.14
251 rdf:type schema:Person
252 sg:person.01167700506.17 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
253 schema:familyName Rickman
254 schema:givenName Lisa
255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167700506.17
256 rdf:type schema:Person
257 sg:person.01326464676.90 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
258 schema:familyName Carter
259 schema:givenName Nigel P
260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326464676.90
261 rdf:type schema:Person
262 sg:person.01331467005.97 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
263 schema:familyName Prigmore
264 schema:givenName Elena
265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331467005.97
266 rdf:type schema:Person
267 sg:person.01340621051.74 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
268 schema:familyName Curley
269 schema:givenName Rebecca
270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340621051.74
271 rdf:type schema:Person
272 sg:person.013507037162.59 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
273 schema:familyName Lees
274 schema:givenName Andrew J
275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013507037162.59
276 rdf:type schema:Person
277 sg:person.016574624324.28 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
278 schema:familyName de Silva
279 schema:givenName Rohan
280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016574624324.28
281 rdf:type schema:Person
282 sg:person.0610626650.06 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
283 schema:familyName Kalaitzopoulos
284 schema:givenName Dimitrios
285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610626650.06
286 rdf:type schema:Person
287 sg:person.0615214751.03 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
288 schema:familyName Cumming
289 schema:givenName Sally
290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615214751.03
291 rdf:type schema:Person
292 sg:person.0666711727.97 schema:affiliation https://www.grid.ac/institutes/grid.11899.38
293 schema:familyName Varela
294 schema:givenName Monica C
295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666711727.97
296 rdf:type schema:Person
297 sg:person.0673751210.83 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
298 schema:familyName Firth
299 schema:givenName Helen V
300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673751210.83
301 rdf:type schema:Person
302 sg:person.0705736517.05 schema:affiliation https://www.grid.ac/institutes/grid.120073.7
303 schema:familyName Shaw-Smith
304 schema:givenName Charles
305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705736517.05
306 rdf:type schema:Person
307 sg:person.0743143032.11 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
308 schema:familyName Gribble
309 schema:givenName Susan
310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743143032.11
311 rdf:type schema:Person
312 sg:pub.10.1038/31508 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030318669
313 https://doi.org/10.1038/31508
314 rdf:type schema:CreativeWork
315 sg:pub.10.1038/369488a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019273688
316 https://doi.org/10.1038/369488a0
317 rdf:type schema:CreativeWork
318 sg:pub.10.1038/ng0295-132 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006842876
319 https://doi.org/10.1038/ng0295-132
320 rdf:type schema:CreativeWork
321 sg:pub.10.1038/ng1508 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014662746
322 https://doi.org/10.1038/ng1508
323 rdf:type schema:CreativeWork
324 sg:pub.10.1097/01.gim.0000170992.63691.32 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026946876
325 https://doi.org/10.1097/01.gim.0000170992.63691.32
326 rdf:type schema:CreativeWork
327 sg:pub.10.1186/1471-2164-2-11 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018799770
328 https://doi.org/10.1186/1471-2164-2-11
329 rdf:type schema:CreativeWork
330 https://app.dimensions.ai/details/publication/pub.1109491807 schema:CreativeWork
331 https://doi.org/10.1002/0471695998 schema:sameAs https://app.dimensions.ai/details/publication/pub.1109491807
332 rdf:type schema:CreativeWork
333 https://doi.org/10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c schema:sameAs https://app.dimensions.ai/details/publication/pub.1000865004
334 rdf:type schema:CreativeWork
335 https://doi.org/10.1002/humu.10270 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006629198
336 rdf:type schema:CreativeWork
337 https://doi.org/10.1006/exnr.1999.7227 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031857704
338 rdf:type schema:CreativeWork
339 https://doi.org/10.1016/j.neulet.2004.05.119 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016832851
340 rdf:type schema:CreativeWork
341 https://doi.org/10.1016/s0140-6736(99)03070-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005415583
342 rdf:type schema:CreativeWork
343 https://doi.org/10.1016/s0168-9525(02)02592-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000179704
344 rdf:type schema:CreativeWork
345 https://doi.org/10.1016/s0304-3940(99)00964-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008812691
346 rdf:type schema:CreativeWork
347 https://doi.org/10.1042/bst0330582 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032812745
348 rdf:type schema:CreativeWork
349 https://doi.org/10.1073/pnas.96.10.5598 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010483833
350 rdf:type schema:CreativeWork
351 https://doi.org/10.1086/379977 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058672442
352 rdf:type schema:CreativeWork
353 https://doi.org/10.1086/426950 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058714948
354 rdf:type schema:CreativeWork
355 https://doi.org/10.1093/hmg/8.12.2285 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007986952
356 rdf:type schema:CreativeWork
357 https://doi.org/10.1093/hmg/8.4.711 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003910455
358 rdf:type schema:CreativeWork
359 https://doi.org/10.1093/hmg/ddg101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033858106
360 rdf:type schema:CreativeWork
361 https://doi.org/10.1093/hmg/ddh138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045087840
362 rdf:type schema:CreativeWork
363 https://doi.org/10.1093/hmg/ddi182 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045298195
364 rdf:type schema:CreativeWork
365 https://doi.org/10.1093/hmg/ddi241 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017635734
366 rdf:type schema:CreativeWork
367 https://doi.org/10.1111/j.1399-0004.1993.tb03893.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1030915975
368 rdf:type schema:CreativeWork
369 https://doi.org/10.1136/jmg.2003.017731 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052400097
370 rdf:type schema:CreativeWork
371 https://doi.org/10.1136/jmg.2005.031377 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030963100
372 rdf:type schema:CreativeWork
373 https://doi.org/10.1136/jmg.2005.032268 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007225487
374 rdf:type schema:CreativeWork
375 https://doi.org/10.1159/000091934 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006781546
376 rdf:type schema:CreativeWork
377 https://www.grid.ac/institutes/grid.10306.34 schema:alternateName Wellcome Sanger Institute
378 schema:name The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
379 rdf:type schema:Organization
380 https://www.grid.ac/institutes/grid.11899.38 schema:alternateName University of Sao Paulo
381 schema:name Department of Genetics and Evolutionary Biology, University of São Paolo, PO Box 11461, 05422-970 São Paolo, Brazil.
382 Human Genome Research Centre, University of São Paolo, 05508-090 São Paolo, Brazil.
383 rdf:type schema:Organization
384 https://www.grid.ac/institutes/grid.120073.7 schema:alternateName Addenbrooke's Hospital
385 schema:name Regional Cytogenetics Laboratory, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.
386 Regional Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.
387 University of Cambridge Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.
388 rdf:type schema:Organization
389 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
390 schema:name Reta Lila Weston Institute of Neurological Studies, University College London, 1 Wakefield Street, London, WC1N 1PJ, UK.
391 rdf:type schema:Organization
 




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


...