A survey of APC mutations in Quebec View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2011-12

AUTHORS

Jonathan Jarry, Jean-Sébastien Brunet, Rachel Laframboise, Régen Drouin, Jean Latreille, Carole Richard, Jean Gekas, Bruno Maranda, Yury Monczak, Nora Wong, Carly Pouchet, Sonya Zaor, Lidia Kasprzak, Laura Palma, Mona Kay Wu, Marc Tischkowitz, William D. Foulkes, George Chong

ABSTRACT

This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 families affected with familial adenomatous polyposis. Of these unique mutations, 60% are short indels, 28% are point mutations, and 6% are whole exon deletions. The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification. More... »

PAGES

659-665

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10689-011-9468-4

DOI

http://dx.doi.org/10.1007/s10689-011-9468-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009345137

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21779980


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": "Adenomatous Polyposis Coli", 
        "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": "Aged", 
        "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": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Exons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, APC", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Germ-Line Mutation", 
        "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": "Longitudinal Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutagenesis, Insertional", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Point Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Quebec", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Analysis, DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Deletion", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jarry", 
        "givenName": "Jonathan", 
        "id": "sg:person.01173331755.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01173331755.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brunet", 
        "givenName": "Jean-S\u00e9bastien", 
        "id": "sg:person.0701671710.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701671710.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre hospitalier de l'Universit\u00e9 Laval", 
          "id": "https://www.grid.ac/institutes/grid.411065.7", 
          "name": [
            "Centre Hospitalier de l\u2019Universit\u00e9 Laval, Quebec, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Laframboise", 
        "givenName": "Rachel", 
        "id": "sg:person.01063450523.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063450523.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universit\u00e9 de Sherbrooke", 
          "id": "https://www.grid.ac/institutes/grid.86715.3d", 
          "name": [
            "Genetics Services, University of Sherbrooke, Sherbrooke, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Drouin", 
        "givenName": "R\u00e9gen", 
        "id": "sg:person.01004435104.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004435104.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hopital Charles-LeMoyne", 
          "id": "https://www.grid.ac/institutes/grid.420748.d", 
          "name": [
            "Centre int\u00e9gr\u00e9 de canc\u00e9rologie de la Mont\u00e9r\u00e9gie, H\u00f4pital Charles LeMoyne, Longueuil, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Latreille", 
        "givenName": "Jean", 
        "id": "sg:person.0625566531.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0625566531.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al", 
          "id": "https://www.grid.ac/institutes/grid.410559.c", 
          "name": [
            "Department of Colorectal Surgery, Centre Hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Richard", 
        "givenName": "Carole", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre hospitalier de l'Universit\u00e9 Laval", 
          "id": "https://www.grid.ac/institutes/grid.411065.7", 
          "name": [
            "Centre Hospitalier de l\u2019Universit\u00e9 Laval, Quebec, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gekas", 
        "givenName": "Jean", 
        "id": "sg:person.01362566524.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362566524.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre hospitalier de l'Universit\u00e9 Laval", 
          "id": "https://www.grid.ac/institutes/grid.411065.7", 
          "name": [
            "Centre Hospitalier de l\u2019Universit\u00e9 Laval, Quebec, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Maranda", 
        "givenName": "Bruno", 
        "id": "sg:person.0636257475.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636257475.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Monczak", 
        "givenName": "Yury", 
        "id": "sg:person.0743247700.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743247700.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Jewish General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414980.0", 
          "name": [
            "Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wong", 
        "givenName": "Nora", 
        "id": "sg:person.01327706166.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327706166.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Jewish General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414980.0", 
          "name": [
            "Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pouchet", 
        "givenName": "Carly", 
        "id": "sg:person.01210316430.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210316430.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Jewish General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414980.0", 
          "name": [
            "Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zaor", 
        "givenName": "Sonya", 
        "id": "sg:person.0674047604.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674047604.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University Health Centre", 
          "id": "https://www.grid.ac/institutes/grid.63984.30", 
          "name": [
            "Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kasprzak", 
        "givenName": "Lidia", 
        "id": "sg:person.0742163004.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742163004.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University Health Centre", 
          "id": "https://www.grid.ac/institutes/grid.63984.30", 
          "name": [
            "Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Palma", 
        "givenName": "Laura", 
        "id": "sg:person.01010276204.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010276204.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wu", 
        "givenName": "Mona Kay", 
        "id": "sg:person.014726375024.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014726375024.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada", 
            "Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tischkowitz", 
        "givenName": "Marc", 
        "id": "sg:person.01331505626.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331505626.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada", 
            "Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada", 
            "Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Foulkes", 
        "givenName": "William D.", 
        "id": "sg:person.01115252630.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115252630.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chong", 
        "givenName": "George", 
        "id": "sg:person.0676214242.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0676214242.95"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1186/1741-7015-6-10", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000232693", 
          "https://doi.org/10.1186/1741-7015-6-10"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050293", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003392086", 
          "https://doi.org/10.1007/s004390050293"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050293", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003392086", 
          "https://doi.org/10.1007/s004390050293"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.21056", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007705099"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gnf056", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013569073"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/gut.35.11.1622", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015616817"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/gut.43.4.548", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017864703"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9237", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018612685"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2004.022822", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019319989"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10689-005-5673-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020455978", 
          "https://doi.org/10.1007/s10689-005-5673-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2353/jmoldx.2007.060096", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021967578"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/26.1.269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023134726"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.hmg.a018912", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024325039"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1479-7364-4-2-69", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024793222", 
          "https://doi.org/10.1186/1479-7364-4-2-69"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.bjc.6602121", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026681560", 
          "https://doi.org/10.1038/sj.bjc.6602121"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.bjc.6602121", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026681560", 
          "https://doi.org/10.1038/sj.bjc.6602121"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.critrevonc.2006.07.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028819376"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9151", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031322003"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20210", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034858452"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20210", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034858452"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20122", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037368479"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2350-10-57", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037696519", 
          "https://doi.org/10.1186/1471-2350-10-57"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.mrfmmm.2009.11.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037856120"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/gut.48.4.515", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041546552"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9360", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047818466"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(93)90538-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050932978"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02281864", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051579001", 
          "https://doi.org/10.1007/bf02281864"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02281864", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051579001", 
          "https://doi.org/10.1007/bf02281864"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/24.1.121", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051921415"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00432-009-0594-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052515372", 
          "https://doi.org/10.1007/s00432-009-0594-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00432-009-0594-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052515372", 
          "https://doi.org/10.1007/s00432-009-0594-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00432-009-0594-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052515372", 
          "https://doi.org/10.1007/s00432-009-0594-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/301883", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609480"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1200/jco.2003.09.118", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064203861"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074544770", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2011-12", 
    "datePublishedReg": "2011-12-01", 
    "description": "This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 families affected with familial adenomatous polyposis. Of these unique mutations, 60% are short indels, 28% are point mutations, and 6% are whole exon deletions. The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s10689-011-9468-4", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1021923", 
        "issn": [
          "1389-9600", 
          "1573-7292"
        ], 
        "name": "Familial Cancer", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "10"
      }
    ], 
    "name": "A survey of APC mutations in Quebec", 
    "pagination": "659-665", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "2c84631df3ea792b5fbdc0c184fd8f37aba87155d7c25b3ba4cc3b9a9ed4ced7"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "21779980"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "100898211"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s10689-011-9468-4"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1009345137"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s10689-011-9468-4", 
      "https://app.dimensions.ai/details/publication/pub.1009345137"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T19:51", 
    "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_8681_00000486.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s10689-011-9468-4"
  }
]
 

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.10.1007/s10689-011-9468-4'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s10689-011-9468-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s10689-011-9468-4'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10689-011-9468-4'


 

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

399 TRIPLES      21 PREDICATES      81 URIs      44 LITERALS      32 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s10689-011-9468-4 schema:about N0a4898f01fd840eaa3078484b39f2e10
2 N16464a755e454034a8fba46c9af6d596
3 N26de9740d6684eacb385ca7bc1947c0b
4 N2817fa6db0884df49ffe4e5b500860c5
5 N309bc88a33aa4c37b44b6a4feed1993d
6 N54b76dad6f9a44c69f7cdd5c8097452b
7 N5d2e1850a9d9491381c40ed13750efac
8 N61cd36550c0c473ea7a33ca05709b130
9 N6cb029a0adb94e5e815ca8bc39917722
10 N7133275b806a439ebd882fc971f41999
11 N7eb42027b8a14cfeb72251986d41a26b
12 N8797e634a8b94d62b5869ddea8f3b695
13 Na8e4b410e24541f68f3d9bc4c46ddf5d
14 Nb24149ebb8044be19f910efb2a1d62d4
15 Nb47517b450784aafadce512381d1aa13
16 Nb74456da7911409eb530bf482bdf0bbf
17 Nbd9611c088934302829e96419f5efb2b
18 Nc32fb4fd8bdc4593929959f7091c7376
19 Nd0fd3544d901431e866066ac79f9edb4
20 Nda59b6c1042546809a218611dea8bb19
21 Ndc5ce4fbbbdc4ed1b98c9b523e809705
22 Neb95c6e103c54adf8bf9d9396a96284f
23 Nf73e23173d5b4bc18a5532e3ccba620f
24 anzsrc-for:06
25 anzsrc-for:0604
26 schema:author Na3a5a29cddda4ef2b87445c4e3e7a9bd
27 schema:citation sg:pub.10.1007/bf02281864
28 sg:pub.10.1007/s00432-009-0594-4
29 sg:pub.10.1007/s004390050293
30 sg:pub.10.1007/s10689-005-5673-3
31 sg:pub.10.1038/sj.bjc.6602121
32 sg:pub.10.1186/1471-2350-10-57
33 sg:pub.10.1186/1479-7364-4-2-69
34 sg:pub.10.1186/1741-7015-6-10
35 https://app.dimensions.ai/details/publication/pub.1074544770
36 https://doi.org/10.1002/humu.20122
37 https://doi.org/10.1002/humu.20210
38 https://doi.org/10.1002/humu.21056
39 https://doi.org/10.1002/humu.9151
40 https://doi.org/10.1002/humu.9237
41 https://doi.org/10.1002/humu.9360
42 https://doi.org/10.1016/0092-8674(93)90538-2
43 https://doi.org/10.1016/j.critrevonc.2006.07.004
44 https://doi.org/10.1016/j.mrfmmm.2009.11.002
45 https://doi.org/10.1086/301883
46 https://doi.org/10.1093/nar/24.1.121
47 https://doi.org/10.1093/nar/26.1.269
48 https://doi.org/10.1093/nar/gnf056
49 https://doi.org/10.1093/oxfordjournals.hmg.a018912
50 https://doi.org/10.1136/gut.35.11.1622
51 https://doi.org/10.1136/gut.43.4.548
52 https://doi.org/10.1136/gut.48.4.515
53 https://doi.org/10.1136/jmg.2004.022822
54 https://doi.org/10.1200/jco.2003.09.118
55 https://doi.org/10.2353/jmoldx.2007.060096
56 schema:datePublished 2011-12
57 schema:datePublishedReg 2011-12-01
58 schema:description This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 families affected with familial adenomatous polyposis. Of these unique mutations, 60% are short indels, 28% are point mutations, and 6% are whole exon deletions. The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification.
59 schema:genre research_article
60 schema:inLanguage en
61 schema:isAccessibleForFree false
62 schema:isPartOf N6f86c240084f473790a3b3b67ffe7fa0
63 Nac3b94ede6fd46b899a76ad5b80c60ef
64 sg:journal.1021923
65 schema:name A survey of APC mutations in Quebec
66 schema:pagination 659-665
67 schema:productId N2575cd84931a44b38e76392c9323ecc5
68 N38f4f843f5384049b66140ae560716a5
69 N714a8229e096427189eb1daa4b2bdd0c
70 Na1a9fcdbc7af4477b027b90962f49d19
71 Neb6351c8e875465ba8323c6d34610ddd
72 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009345137
73 https://doi.org/10.1007/s10689-011-9468-4
74 schema:sdDatePublished 2019-04-10T19:51
75 schema:sdLicense https://scigraph.springernature.com/explorer/license/
76 schema:sdPublisher Nca3f80d39cdf4c20b91740bbff4bfeb7
77 schema:url http://link.springer.com/10.1007/s10689-011-9468-4
78 sgo:license sg:explorer/license/
79 sgo:sdDataset articles
80 rdf:type schema:ScholarlyArticle
81 N0a4898f01fd840eaa3078484b39f2e10 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name DNA Mutational Analysis
83 rdf:type schema:DefinedTerm
84 N0a6a8dce26db44b4a706692d5154ca51 schema:name Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada
85 rdf:type schema:Organization
86 N0f47ebb5802043f8aae885853c40d742 rdf:first sg:person.0674047604.13
87 rdf:rest Nb0974faab40141ea99e2daeb025dd834
88 N10cd5a641ef24804833ec9c78ec3f123 schema:name Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada
89 rdf:type schema:Organization
90 N16464a755e454034a8fba46c9af6d596 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Molecular Sequence Data
92 rdf:type schema:DefinedTerm
93 N2315ee8f2bb5425f98150819e341db07 rdf:first sg:person.0701671710.13
94 rdf:rest Ncfe7f2ab9a3e429cbbdbbe5880c2ce9e
95 N2575cd84931a44b38e76392c9323ecc5 schema:name doi
96 schema:value 10.1007/s10689-011-9468-4
97 rdf:type schema:PropertyValue
98 N26de9740d6684eacb385ca7bc1947c0b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Exons
100 rdf:type schema:DefinedTerm
101 N2817fa6db0884df49ffe4e5b500860c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Germ-Line Mutation
103 rdf:type schema:DefinedTerm
104 N2a207741b3254cd3bc1cb86024e69c8a rdf:first sg:person.01331505626.25
105 rdf:rest N6569a927df3e4b1cafad67eda4500c22
106 N309bc88a33aa4c37b44b6a4feed1993d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Mutagenesis, Insertional
108 rdf:type schema:DefinedTerm
109 N38f4f843f5384049b66140ae560716a5 schema:name readcube_id
110 schema:value 2c84631df3ea792b5fbdc0c184fd8f37aba87155d7c25b3ba4cc3b9a9ed4ced7
111 rdf:type schema:PropertyValue
112 N43eb2e00fa524160b20884d8ec4a7400 rdf:first sg:person.01010276204.24
113 rdf:rest N79a308ac86ca432db863775144bf4186
114 N54b76dad6f9a44c69f7cdd5c8097452b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Child, Preschool
116 rdf:type schema:DefinedTerm
117 N5d2e1850a9d9491381c40ed13750efac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Adenomatous Polyposis Coli
119 rdf:type schema:DefinedTerm
120 N61cd36550c0c473ea7a33ca05709b130 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Middle Aged
122 rdf:type schema:DefinedTerm
123 N6569a927df3e4b1cafad67eda4500c22 rdf:first sg:person.01115252630.09
124 rdf:rest N81fb4aee6ba24154a2284c0cf52d3186
125 N6cb029a0adb94e5e815ca8bc39917722 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Aged
127 rdf:type schema:DefinedTerm
128 N6f86c240084f473790a3b3b67ffe7fa0 schema:issueNumber 4
129 rdf:type schema:PublicationIssue
130 N7133275b806a439ebd882fc971f41999 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Adult
132 rdf:type schema:DefinedTerm
133 N714a8229e096427189eb1daa4b2bdd0c schema:name pubmed_id
134 schema:value 21779980
135 rdf:type schema:PropertyValue
136 N720be36638e042c184041603435564d7 rdf:first sg:person.01004435104.82
137 rdf:rest Nd5f897562f1e4000b441fc6cbd20656d
138 N770c45c4638b4b1d940987ea5a4483ab rdf:first sg:person.0636257475.13
139 rdf:rest Ne355fb1a0ca3439f8faba4b99e17a929
140 N79a308ac86ca432db863775144bf4186 rdf:first sg:person.014726375024.11
141 rdf:rest N2a207741b3254cd3bc1cb86024e69c8a
142 N7eb42027b8a14cfeb72251986d41a26b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Genetic Testing
144 rdf:type schema:DefinedTerm
145 N7ece2578a3d84032a27cd18caa07f949 rdf:first Nc9c64132bf5348a6b055c01713b064bb
146 rdf:rest Ne876aa76297e455cada2eb1c761816f8
147 N81fb4aee6ba24154a2284c0cf52d3186 rdf:first sg:person.0676214242.95
148 rdf:rest rdf:nil
149 N8797e634a8b94d62b5869ddea8f3b695 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Female
151 rdf:type schema:DefinedTerm
152 N9a824339edae4afea33fbbd370b8e0df rdf:first sg:person.01327706166.05
153 rdf:rest Necf69786d32145ce98ca6adf62073990
154 Na1a9fcdbc7af4477b027b90962f49d19 schema:name dimensions_id
155 schema:value pub.1009345137
156 rdf:type schema:PropertyValue
157 Na3a5a29cddda4ef2b87445c4e3e7a9bd rdf:first sg:person.01173331755.51
158 rdf:rest N2315ee8f2bb5425f98150819e341db07
159 Na8e4b410e24541f68f3d9bc4c46ddf5d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Male
161 rdf:type schema:DefinedTerm
162 Nac3b94ede6fd46b899a76ad5b80c60ef schema:volumeNumber 10
163 rdf:type schema:PublicationVolume
164 Nb0974faab40141ea99e2daeb025dd834 rdf:first sg:person.0742163004.64
165 rdf:rest N43eb2e00fa524160b20884d8ec4a7400
166 Nb24149ebb8044be19f910efb2a1d62d4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Genes, APC
168 rdf:type schema:DefinedTerm
169 Nb47517b450784aafadce512381d1aa13 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Child
171 rdf:type schema:DefinedTerm
172 Nb74456da7911409eb530bf482bdf0bbf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Sequence Analysis, DNA
174 rdf:type schema:DefinedTerm
175 Nb8141522fbba49c7b73e2d73e0bada41 schema:name Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, H3T 1E2, Montreal, QC, Canada
176 rdf:type schema:Organization
177 Nbd9611c088934302829e96419f5efb2b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
178 schema:name Longitudinal Studies
179 rdf:type schema:DefinedTerm
180 Nc32fb4fd8bdc4593929959f7091c7376 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
181 schema:name Humans
182 rdf:type schema:DefinedTerm
183 Nc9c64132bf5348a6b055c01713b064bb schema:affiliation https://www.grid.ac/institutes/grid.410559.c
184 schema:familyName Richard
185 schema:givenName Carole
186 rdf:type schema:Person
187 Nca3f80d39cdf4c20b91740bbff4bfeb7 schema:name Springer Nature - SN SciGraph project
188 rdf:type schema:Organization
189 Ncfe7f2ab9a3e429cbbdbbe5880c2ce9e rdf:first sg:person.01063450523.96
190 rdf:rest N720be36638e042c184041603435564d7
191 Nd0fd3544d901431e866066ac79f9edb4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
192 schema:name Quebec
193 rdf:type schema:DefinedTerm
194 Nd5f897562f1e4000b441fc6cbd20656d rdf:first sg:person.0625566531.85
195 rdf:rest N7ece2578a3d84032a27cd18caa07f949
196 Nda59b6c1042546809a218611dea8bb19 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
197 schema:name Adolescent
198 rdf:type schema:DefinedTerm
199 Ndc5ce4fbbbdc4ed1b98c9b523e809705 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
200 schema:name Point Mutation
201 rdf:type schema:DefinedTerm
202 Ne355fb1a0ca3439f8faba4b99e17a929 rdf:first sg:person.0743247700.04
203 rdf:rest N9a824339edae4afea33fbbd370b8e0df
204 Ne876aa76297e455cada2eb1c761816f8 rdf:first sg:person.01362566524.85
205 rdf:rest N770c45c4638b4b1d940987ea5a4483ab
206 Neb6351c8e875465ba8323c6d34610ddd schema:name nlm_unique_id
207 schema:value 100898211
208 rdf:type schema:PropertyValue
209 Neb95c6e103c54adf8bf9d9396a96284f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
210 schema:name Infant
211 rdf:type schema:DefinedTerm
212 Necf69786d32145ce98ca6adf62073990 rdf:first sg:person.01210316430.54
213 rdf:rest N0f47ebb5802043f8aae885853c40d742
214 Nf73e23173d5b4bc18a5532e3ccba620f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
215 schema:name Sequence Deletion
216 rdf:type schema:DefinedTerm
217 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
218 schema:name Biological Sciences
219 rdf:type schema:DefinedTerm
220 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
221 schema:name Genetics
222 rdf:type schema:DefinedTerm
223 sg:journal.1021923 schema:issn 1389-9600
224 1573-7292
225 schema:name Familial Cancer
226 rdf:type schema:Periodical
227 sg:person.01004435104.82 schema:affiliation https://www.grid.ac/institutes/grid.86715.3d
228 schema:familyName Drouin
229 schema:givenName Régen
230 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004435104.82
231 rdf:type schema:Person
232 sg:person.01010276204.24 schema:affiliation https://www.grid.ac/institutes/grid.63984.30
233 schema:familyName Palma
234 schema:givenName Laura
235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010276204.24
236 rdf:type schema:Person
237 sg:person.01063450523.96 schema:affiliation https://www.grid.ac/institutes/grid.411065.7
238 schema:familyName Laframboise
239 schema:givenName Rachel
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063450523.96
241 rdf:type schema:Person
242 sg:person.01115252630.09 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
243 schema:familyName Foulkes
244 schema:givenName William D.
245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115252630.09
246 rdf:type schema:Person
247 sg:person.01173331755.51 schema:affiliation N10cd5a641ef24804833ec9c78ec3f123
248 schema:familyName Jarry
249 schema:givenName Jonathan
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01173331755.51
251 rdf:type schema:Person
252 sg:person.01210316430.54 schema:affiliation https://www.grid.ac/institutes/grid.414980.0
253 schema:familyName Pouchet
254 schema:givenName Carly
255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210316430.54
256 rdf:type schema:Person
257 sg:person.01327706166.05 schema:affiliation https://www.grid.ac/institutes/grid.414980.0
258 schema:familyName Wong
259 schema:givenName Nora
260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327706166.05
261 rdf:type schema:Person
262 sg:person.01331505626.25 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
263 schema:familyName Tischkowitz
264 schema:givenName Marc
265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331505626.25
266 rdf:type schema:Person
267 sg:person.01362566524.85 schema:affiliation https://www.grid.ac/institutes/grid.411065.7
268 schema:familyName Gekas
269 schema:givenName Jean
270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362566524.85
271 rdf:type schema:Person
272 sg:person.014726375024.11 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
273 schema:familyName Wu
274 schema:givenName Mona Kay
275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014726375024.11
276 rdf:type schema:Person
277 sg:person.0625566531.85 schema:affiliation https://www.grid.ac/institutes/grid.420748.d
278 schema:familyName Latreille
279 schema:givenName Jean
280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0625566531.85
281 rdf:type schema:Person
282 sg:person.0636257475.13 schema:affiliation https://www.grid.ac/institutes/grid.411065.7
283 schema:familyName Maranda
284 schema:givenName Bruno
285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636257475.13
286 rdf:type schema:Person
287 sg:person.0674047604.13 schema:affiliation https://www.grid.ac/institutes/grid.414980.0
288 schema:familyName Zaor
289 schema:givenName Sonya
290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674047604.13
291 rdf:type schema:Person
292 sg:person.0676214242.95 schema:affiliation Nb8141522fbba49c7b73e2d73e0bada41
293 schema:familyName Chong
294 schema:givenName George
295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0676214242.95
296 rdf:type schema:Person
297 sg:person.0701671710.13 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
298 schema:familyName Brunet
299 schema:givenName Jean-Sébastien
300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701671710.13
301 rdf:type schema:Person
302 sg:person.0742163004.64 schema:affiliation https://www.grid.ac/institutes/grid.63984.30
303 schema:familyName Kasprzak
304 schema:givenName Lidia
305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742163004.64
306 rdf:type schema:Person
307 sg:person.0743247700.04 schema:affiliation N0a6a8dce26db44b4a706692d5154ca51
308 schema:familyName Monczak
309 schema:givenName Yury
310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743247700.04
311 rdf:type schema:Person
312 sg:pub.10.1007/bf02281864 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051579001
313 https://doi.org/10.1007/bf02281864
314 rdf:type schema:CreativeWork
315 sg:pub.10.1007/s00432-009-0594-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052515372
316 https://doi.org/10.1007/s00432-009-0594-4
317 rdf:type schema:CreativeWork
318 sg:pub.10.1007/s004390050293 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003392086
319 https://doi.org/10.1007/s004390050293
320 rdf:type schema:CreativeWork
321 sg:pub.10.1007/s10689-005-5673-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020455978
322 https://doi.org/10.1007/s10689-005-5673-3
323 rdf:type schema:CreativeWork
324 sg:pub.10.1038/sj.bjc.6602121 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026681560
325 https://doi.org/10.1038/sj.bjc.6602121
326 rdf:type schema:CreativeWork
327 sg:pub.10.1186/1471-2350-10-57 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037696519
328 https://doi.org/10.1186/1471-2350-10-57
329 rdf:type schema:CreativeWork
330 sg:pub.10.1186/1479-7364-4-2-69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024793222
331 https://doi.org/10.1186/1479-7364-4-2-69
332 rdf:type schema:CreativeWork
333 sg:pub.10.1186/1741-7015-6-10 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000232693
334 https://doi.org/10.1186/1741-7015-6-10
335 rdf:type schema:CreativeWork
336 https://app.dimensions.ai/details/publication/pub.1074544770 schema:CreativeWork
337 https://doi.org/10.1002/humu.20122 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037368479
338 rdf:type schema:CreativeWork
339 https://doi.org/10.1002/humu.20210 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034858452
340 rdf:type schema:CreativeWork
341 https://doi.org/10.1002/humu.21056 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007705099
342 rdf:type schema:CreativeWork
343 https://doi.org/10.1002/humu.9151 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031322003
344 rdf:type schema:CreativeWork
345 https://doi.org/10.1002/humu.9237 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018612685
346 rdf:type schema:CreativeWork
347 https://doi.org/10.1002/humu.9360 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047818466
348 rdf:type schema:CreativeWork
349 https://doi.org/10.1016/0092-8674(93)90538-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050932978
350 rdf:type schema:CreativeWork
351 https://doi.org/10.1016/j.critrevonc.2006.07.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028819376
352 rdf:type schema:CreativeWork
353 https://doi.org/10.1016/j.mrfmmm.2009.11.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037856120
354 rdf:type schema:CreativeWork
355 https://doi.org/10.1086/301883 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609480
356 rdf:type schema:CreativeWork
357 https://doi.org/10.1093/nar/24.1.121 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051921415
358 rdf:type schema:CreativeWork
359 https://doi.org/10.1093/nar/26.1.269 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023134726
360 rdf:type schema:CreativeWork
361 https://doi.org/10.1093/nar/gnf056 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013569073
362 rdf:type schema:CreativeWork
363 https://doi.org/10.1093/oxfordjournals.hmg.a018912 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024325039
364 rdf:type schema:CreativeWork
365 https://doi.org/10.1136/gut.35.11.1622 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015616817
366 rdf:type schema:CreativeWork
367 https://doi.org/10.1136/gut.43.4.548 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017864703
368 rdf:type schema:CreativeWork
369 https://doi.org/10.1136/gut.48.4.515 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041546552
370 rdf:type schema:CreativeWork
371 https://doi.org/10.1136/jmg.2004.022822 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019319989
372 rdf:type schema:CreativeWork
373 https://doi.org/10.1200/jco.2003.09.118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064203861
374 rdf:type schema:CreativeWork
375 https://doi.org/10.2353/jmoldx.2007.060096 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021967578
376 rdf:type schema:CreativeWork
377 https://www.grid.ac/institutes/grid.14709.3b schema:alternateName McGill University
378 schema:name Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada
379 Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada
380 Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, QC, Canada
381 rdf:type schema:Organization
382 https://www.grid.ac/institutes/grid.410559.c schema:alternateName Centre Hospitalier de l’Université de Montréal
383 schema:name Department of Colorectal Surgery, Centre Hospitalier de l’Université de Montréal, Montreal, QC, Canada
384 rdf:type schema:Organization
385 https://www.grid.ac/institutes/grid.411065.7 schema:alternateName Centre hospitalier de l'Université Laval
386 schema:name Centre Hospitalier de l’Université Laval, Quebec, QC, Canada
387 rdf:type schema:Organization
388 https://www.grid.ac/institutes/grid.414980.0 schema:alternateName Jewish General Hospital
389 schema:name Department of Medical Genetics, Cancer Prevention Centre, Jewish General Hospital, Montreal, QC, Canada
390 rdf:type schema:Organization
391 https://www.grid.ac/institutes/grid.420748.d schema:alternateName Hopital Charles-LeMoyne
392 schema:name Centre intégré de cancérologie de la Montérégie, Hôpital Charles LeMoyne, Longueuil, QC, Canada
393 rdf:type schema:Organization
394 https://www.grid.ac/institutes/grid.63984.30 schema:alternateName McGill University Health Centre
395 schema:name Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada
396 rdf:type schema:Organization
397 https://www.grid.ac/institutes/grid.86715.3d schema:alternateName Université de Sherbrooke
398 schema:name Genetics Services, University of Sherbrooke, Sherbrooke, QC, Canada
399 rdf:type schema:Organization
 




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


...