Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-01

AUTHORS

Akseli Hemminki, Ian Tomlinson, David Markie, Heikki Järvinen, Pertti Sistonen, Anna-Maria Björkqvist, Sakari Knuutila, Reijo Salovaara, Walter Bodmer, Darryl Shibata, Albert de la Chapelle, Lauri A. Aaltonen

ABSTRACT

Many human cancer susceptibility genes have been successfully mapped by genetic linkage studies. One that has so far eluded researchers is that for Peutz-Jeghers (P-J) syndrome, a condition characterized by intestinal hamartomatous polyposis and melanin spots of the lips, buccal mucosa and digits. A dramatically elevated risk of malignancy has also been documented. Gastrointestinal tumours as well as cancers of the breast, ovary, testis and uterine cervix appear to be overrepresented in families with this syndrome. The nature of hamartomatous polyps is equivicol. Hamartomas are usually considered histologically benign, but in the case of Peutz-Jeghers patients, there are reports of adenomatous and malignant changes in the polyps, and the possibility of a hamartoma-carcinoma sequence has been discussed. A search for a putative tumour suppressor locus was made using comparative genomic hybridization (CGH) of Peutz-Jeghers polyps, combined with loss of heterozygosity (LOH) study. Genetic linkage analysis in 12 families using markers from a deletion site demonstrated the presence of a high-penetrance locus in distal 19p with a multipoint lod score of 7.00 at marker D19S886 without evidence of genetic heterogeneity. The study demonstrates the power of CGH combined with LOH analysis in identifying putative tumour suppressor loci, and provides molecular evidence of malignant potential in hamartomas. More... »

PAGES

87-90

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0197-87

DOI

http://dx.doi.org/10.1038/ng0197-87

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1018865895

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8988175


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/2008/1112", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Oncology and Carcinogenesis", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adenocarcinoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 19", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Linkage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "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": "Karyotyping", 
        "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": "Peutz-Jeghers Syndrome", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Helsinki", 
          "id": "https://www.grid.ac/institutes/grid.7737.4", 
          "name": [
            "Departments of Medical Genetics, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hemminki", 
        "givenName": "Akseli", 
        "id": "sg:person.0711054465.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0711054465.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cancer Research UK", 
          "id": "https://www.grid.ac/institutes/grid.11485.39", 
          "name": [
            "The Cancer Genetics Laboratory, Imperial Cancer Research Fund, P. O. Box 123, London WC2A 3PX, England, U.K."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tomlinson", 
        "givenName": "Ian", 
        "id": "sg:person.013001172722.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013001172722.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Otago", 
          "id": "https://www.grid.ac/institutes/grid.29980.3a", 
          "name": [
            "Department of Pathology, Dunedin School of Medicine, P.O. Box 913, Dunedin, New Zealand."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Markie", 
        "givenName": "David", 
        "id": "sg:person.01370554257.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370554257.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Helsinki University Central Hospital", 
          "id": "https://www.grid.ac/institutes/grid.15485.3d", 
          "name": [
            "Second Department of Surgery, Helsinki University Central Hospital, Haartmaninkatu 4,00290 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "J\u00e4rvinen", 
        "givenName": "Heikki", 
        "id": "sg:person.0663704010.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663704010.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Finnish Red Cross", 
          "id": "https://www.grid.ac/institutes/grid.452433.7", 
          "name": [
            "Finnish Red Cross Blood Transfusion Service, Kivihaantie 7,00310 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sistonen", 
        "givenName": "Pertti", 
        "id": "sg:person.01203702431.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203702431.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Helsinki", 
          "id": "https://www.grid.ac/institutes/grid.7737.4", 
          "name": [
            "Departments of Medical Genetics, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bj\u00f6rkqvist", 
        "givenName": "Anna-Maria", 
        "id": "sg:person.01303352222.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303352222.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Helsinki", 
          "id": "https://www.grid.ac/institutes/grid.7737.4", 
          "name": [
            "Departments of Medical Genetics, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Knuutila", 
        "givenName": "Sakari", 
        "id": "sg:person.01244111111.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244111111.80"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Helsinki", 
          "id": "https://www.grid.ac/institutes/grid.7737.4", 
          "name": [
            "Departments of Pathology, Haartman Institute, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Salovaara", 
        "givenName": "Reijo", 
        "id": "sg:person.0640640763.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640640763.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cancer Research UK", 
          "id": "https://www.grid.ac/institutes/grid.11485.39", 
          "name": [
            "The Cancer Genetics Laboratory, Imperial Cancer Research Fund, P. O. Box 123, London WC2A 3PX, England, U.K."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bodmer", 
        "givenName": "Walter", 
        "id": "sg:person.014444727044.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014444727044.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Southern California", 
          "id": "https://www.grid.ac/institutes/grid.42505.36", 
          "name": [
            "Department of Pathology, University of Southern California School of Medicine, 1200 N. State St. 736, Los Angeles, California 90033, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shibata", 
        "givenName": "Darryl", 
        "id": "sg:person.01264261302.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264261302.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Helsinki", 
          "id": "https://www.grid.ac/institutes/grid.7737.4", 
          "name": [
            "Departments of Medical Genetics, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "de la Chapelle", 
        "givenName": "Albert", 
        "id": "sg:person.01053232756.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053232756.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Helsinki", 
          "id": "https://www.grid.ac/institutes/grid.7737.4", 
          "name": [
            "Departments of Medical Genetics, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Aaltonen", 
        "givenName": "Lauri A.", 
        "id": "sg:person.014335002177.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014335002177.17"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nm0696-676", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001504269", 
          "https://doi.org/10.1038/nm0696-676"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1093-103", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016759702", 
          "https://doi.org/10.1038/ng1093-103"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02050632", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019374232", 
          "https://doi.org/10.1007/bf02050632"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf02050632", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019374232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf02050632", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019374232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf02050632", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019374232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/gcc.2870100403", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038266174"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1295-402", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046708546", 
          "https://doi.org/10.1038/ng1295-402"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm198706113162404", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047925335"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm194912292412601", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053662187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-2007-1005447", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057479689"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1359641", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062477301"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082754470", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1997-01", 
    "datePublishedReg": "1997-01-01", 
    "description": "Many human cancer susceptibility genes have been successfully mapped by genetic linkage studies. One that has so far eluded researchers is that for Peutz-Jeghers (P-J) syndrome, a condition characterized by intestinal hamartomatous polyposis and melanin spots of the lips, buccal mucosa and digits. A dramatically elevated risk of malignancy has also been documented. Gastrointestinal tumours as well as cancers of the breast, ovary, testis and uterine cervix appear to be overrepresented in families with this syndrome. The nature of hamartomatous polyps is equivicol. Hamartomas are usually considered histologically benign, but in the case of Peutz-Jeghers patients, there are reports of adenomatous and malignant changes in the polyps, and the possibility of a hamartoma-carcinoma sequence has been discussed. A search for a putative tumour suppressor locus was made using comparative genomic hybridization (CGH) of Peutz-Jeghers polyps, combined with loss of heterozygosity (LOH) study. Genetic linkage analysis in 12 families using markers from a deletion site demonstrated the presence of a high-penetrance locus in distal 19p with a multipoint lod score of 7.00 at marker D19S886 without evidence of genetic heterogeneity. The study demonstrates the power of CGH combined with LOH analysis in identifying putative tumour suppressor loci, and provides molecular evidence of malignant potential in hamartomas.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng0197-87", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "15"
      }
    ], 
    "name": "Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis", 
    "pagination": "87-90", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "59e3ffd055805ce76cdd3a0da25b11fcdc0c6c9b1d006155ef67d9913d2d5682"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "8988175"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng0197-87"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1018865895"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng0197-87", 
      "https://app.dimensions.ai/details/publication/pub.1018865895"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T23:13", 
    "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_8693_00000434.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng0197-87"
  }
]
 

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/ng0197-87'

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/ng0197-87'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng0197-87'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng0197-87'


 

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

250 TRIPLES      21 PREDICATES      53 URIs      34 LITERALS      22 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng0197-87 schema:about N567a135b93fc44ae8ee010a3b13206e7
2 N670c4bd89c36490284c16b3a6a9c7587
3 N6b3fe2d08e8845559447fb68f0dcefae
4 N789828f232fa48b787cdc54b30c541e1
5 N814c0d3cb20d42af9a1362fd11288e50
6 N82bc4b4e242c4f8ebd5772a2f138bdfb
7 N9f060ee335a446288e2d7a706903bf84
8 Na4d0699ad8d045cca01cc4ec117a3ece
9 Nba6611961aa84d29bbf363dbb9ff35ab
10 Ndfa2a8412bd9421a976bab32655032aa
11 Nf1580a926294474bbd0afcfa0e6dfea7
12 Nf88c525751f04fbbacc4ea01c0a997b5
13 Nfdc05dd0ee5d4fe6bcab92e842c0ba8d
14 anzsrc-for:11
15 anzsrc-for:1112
16 schema:author Ncd2694ffbd324d75aef61f3d6f269708
17 schema:citation sg:pub.10.1007/bf02050632
18 sg:pub.10.1038/ng1093-103
19 sg:pub.10.1038/ng1295-402
20 sg:pub.10.1038/nm0696-676
21 https://app.dimensions.ai/details/publication/pub.1082754470
22 https://doi.org/10.1002/gcc.2870100403
23 https://doi.org/10.1007/bf02050632
24 https://doi.org/10.1055/s-2007-1005447
25 https://doi.org/10.1056/nejm194912292412601
26 https://doi.org/10.1056/nejm198706113162404
27 https://doi.org/10.1126/science.1359641
28 schema:datePublished 1997-01
29 schema:datePublishedReg 1997-01-01
30 schema:description Many human cancer susceptibility genes have been successfully mapped by genetic linkage studies. One that has so far eluded researchers is that for Peutz-Jeghers (P-J) syndrome, a condition characterized by intestinal hamartomatous polyposis and melanin spots of the lips, buccal mucosa and digits. A dramatically elevated risk of malignancy has also been documented. Gastrointestinal tumours as well as cancers of the breast, ovary, testis and uterine cervix appear to be overrepresented in families with this syndrome. The nature of hamartomatous polyps is equivicol. Hamartomas are usually considered histologically benign, but in the case of Peutz-Jeghers patients, there are reports of adenomatous and malignant changes in the polyps, and the possibility of a hamartoma-carcinoma sequence has been discussed. A search for a putative tumour suppressor locus was made using comparative genomic hybridization (CGH) of Peutz-Jeghers polyps, combined with loss of heterozygosity (LOH) study. Genetic linkage analysis in 12 families using markers from a deletion site demonstrated the presence of a high-penetrance locus in distal 19p with a multipoint lod score of 7.00 at marker D19S886 without evidence of genetic heterogeneity. The study demonstrates the power of CGH combined with LOH analysis in identifying putative tumour suppressor loci, and provides molecular evidence of malignant potential in hamartomas.
31 schema:genre research_article
32 schema:inLanguage en
33 schema:isAccessibleForFree false
34 schema:isPartOf N31d815755533460c9b1ac5e3aa4a8367
35 Nc52198d9efbf4c74bbc3a1f6f2686216
36 sg:journal.1103138
37 schema:name Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
38 schema:pagination 87-90
39 schema:productId N16d6d0b4deb244688f326caa1c51f085
40 N256c39b87020426c8353f6fbee656a2e
41 N440be487414343dc8f2306c401426bb3
42 Nb995837be0cd46f79d3e3f0d5bc07103
43 Ne7975be3719a4b49b4793777dcc13f4e
44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018865895
45 https://doi.org/10.1038/ng0197-87
46 schema:sdDatePublished 2019-04-10T23:13
47 schema:sdLicense https://scigraph.springernature.com/explorer/license/
48 schema:sdPublisher Nb5d3b18c3b5640f7882b70b88a731b4b
49 schema:url http://www.nature.com/articles/ng0197-87
50 sgo:license sg:explorer/license/
51 sgo:sdDataset articles
52 rdf:type schema:ScholarlyArticle
53 N1203cdfde5c54ab599165b390bc62d31 rdf:first sg:person.01203702431.27
54 rdf:rest Nf3d4f27defb7434a9a13fc56f88a806d
55 N16d6d0b4deb244688f326caa1c51f085 schema:name pubmed_id
56 schema:value 8988175
57 rdf:type schema:PropertyValue
58 N256c39b87020426c8353f6fbee656a2e schema:name nlm_unique_id
59 schema:value 9216904
60 rdf:type schema:PropertyValue
61 N29e747db93a94bf28663b69c65538df3 rdf:first sg:person.01053232756.12
62 rdf:rest N71b29f4dc46a4a7392c9d01dbe331ab9
63 N31d815755533460c9b1ac5e3aa4a8367 schema:issueNumber 1
64 rdf:type schema:PublicationIssue
65 N440be487414343dc8f2306c401426bb3 schema:name readcube_id
66 schema:value 59e3ffd055805ce76cdd3a0da25b11fcdc0c6c9b1d006155ef67d9913d2d5682
67 rdf:type schema:PropertyValue
68 N567a135b93fc44ae8ee010a3b13206e7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
69 schema:name Karyotyping
70 rdf:type schema:DefinedTerm
71 N670c4bd89c36490284c16b3a6a9c7587 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Female
73 rdf:type schema:DefinedTerm
74 N6b3fe2d08e8845559447fb68f0dcefae schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name Genetic Linkage
76 rdf:type schema:DefinedTerm
77 N6d3238124c0d43f2849c84cec3a2a485 rdf:first sg:person.01264261302.03
78 rdf:rest N29e747db93a94bf28663b69c65538df3
79 N71b29f4dc46a4a7392c9d01dbe331ab9 rdf:first sg:person.014335002177.17
80 rdf:rest rdf:nil
81 N789828f232fa48b787cdc54b30c541e1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Adult
83 rdf:type schema:DefinedTerm
84 N7efc06f4d7ba45009a4658b7cc2b0bc1 rdf:first sg:person.0663704010.47
85 rdf:rest N1203cdfde5c54ab599165b390bc62d31
86 N814c0d3cb20d42af9a1362fd11288e50 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Peutz-Jeghers Syndrome
88 rdf:type schema:DefinedTerm
89 N82bc4b4e242c4f8ebd5772a2f138bdfb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Heterozygote
91 rdf:type schema:DefinedTerm
92 N95cafa79b19749778e79ef1bca45da88 rdf:first sg:person.013001172722.66
93 rdf:rest Nba95514b2c20434ca94c69a8a1c18831
94 N9ee6487400ea4f9fa1003381f0f3b33e rdf:first sg:person.014444727044.65
95 rdf:rest N6d3238124c0d43f2849c84cec3a2a485
96 N9f060ee335a446288e2d7a706903bf84 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Chromosomes, Human, Pair 19
98 rdf:type schema:DefinedTerm
99 Na4d0699ad8d045cca01cc4ec117a3ece schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Gene Deletion
101 rdf:type schema:DefinedTerm
102 Nb5d3b18c3b5640f7882b70b88a731b4b schema:name Springer Nature - SN SciGraph project
103 rdf:type schema:Organization
104 Nb899ea2e59df4de5b82c956588e4e1f4 rdf:first sg:person.01244111111.80
105 rdf:rest Nf0dcb5e36b7441fc82aa1f6900fae6c4
106 Nb995837be0cd46f79d3e3f0d5bc07103 schema:name dimensions_id
107 schema:value pub.1018865895
108 rdf:type schema:PropertyValue
109 Nba6611961aa84d29bbf363dbb9ff35ab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Genetic Predisposition to Disease
111 rdf:type schema:DefinedTerm
112 Nba95514b2c20434ca94c69a8a1c18831 rdf:first sg:person.01370554257.04
113 rdf:rest N7efc06f4d7ba45009a4658b7cc2b0bc1
114 Nc52198d9efbf4c74bbc3a1f6f2686216 schema:volumeNumber 15
115 rdf:type schema:PublicationVolume
116 Ncd2694ffbd324d75aef61f3d6f269708 rdf:first sg:person.0711054465.19
117 rdf:rest N95cafa79b19749778e79ef1bca45da88
118 Ndfa2a8412bd9421a976bab32655032aa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Humans
120 rdf:type schema:DefinedTerm
121 Ne7975be3719a4b49b4793777dcc13f4e schema:name doi
122 schema:value 10.1038/ng0197-87
123 rdf:type schema:PropertyValue
124 Nf0dcb5e36b7441fc82aa1f6900fae6c4 rdf:first sg:person.0640640763.91
125 rdf:rest N9ee6487400ea4f9fa1003381f0f3b33e
126 Nf1580a926294474bbd0afcfa0e6dfea7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Male
128 rdf:type schema:DefinedTerm
129 Nf3d4f27defb7434a9a13fc56f88a806d rdf:first sg:person.01303352222.55
130 rdf:rest Nb899ea2e59df4de5b82c956588e4e1f4
131 Nf88c525751f04fbbacc4ea01c0a997b5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Nucleic Acid Hybridization
133 rdf:type schema:DefinedTerm
134 Nfdc05dd0ee5d4fe6bcab92e842c0ba8d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Adenocarcinoma
136 rdf:type schema:DefinedTerm
137 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
138 schema:name Medical and Health Sciences
139 rdf:type schema:DefinedTerm
140 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
141 schema:name Oncology and Carcinogenesis
142 rdf:type schema:DefinedTerm
143 sg:journal.1103138 schema:issn 1061-4036
144 1546-1718
145 schema:name Nature Genetics
146 rdf:type schema:Periodical
147 sg:person.01053232756.12 schema:affiliation https://www.grid.ac/institutes/grid.7737.4
148 schema:familyName de la Chapelle
149 schema:givenName Albert
150 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053232756.12
151 rdf:type schema:Person
152 sg:person.01203702431.27 schema:affiliation https://www.grid.ac/institutes/grid.452433.7
153 schema:familyName Sistonen
154 schema:givenName Pertti
155 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01203702431.27
156 rdf:type schema:Person
157 sg:person.01244111111.80 schema:affiliation https://www.grid.ac/institutes/grid.7737.4
158 schema:familyName Knuutila
159 schema:givenName Sakari
160 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244111111.80
161 rdf:type schema:Person
162 sg:person.01264261302.03 schema:affiliation https://www.grid.ac/institutes/grid.42505.36
163 schema:familyName Shibata
164 schema:givenName Darryl
165 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264261302.03
166 rdf:type schema:Person
167 sg:person.013001172722.66 schema:affiliation https://www.grid.ac/institutes/grid.11485.39
168 schema:familyName Tomlinson
169 schema:givenName Ian
170 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013001172722.66
171 rdf:type schema:Person
172 sg:person.01303352222.55 schema:affiliation https://www.grid.ac/institutes/grid.7737.4
173 schema:familyName Björkqvist
174 schema:givenName Anna-Maria
175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303352222.55
176 rdf:type schema:Person
177 sg:person.01370554257.04 schema:affiliation https://www.grid.ac/institutes/grid.29980.3a
178 schema:familyName Markie
179 schema:givenName David
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370554257.04
181 rdf:type schema:Person
182 sg:person.014335002177.17 schema:affiliation https://www.grid.ac/institutes/grid.7737.4
183 schema:familyName Aaltonen
184 schema:givenName Lauri A.
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014335002177.17
186 rdf:type schema:Person
187 sg:person.014444727044.65 schema:affiliation https://www.grid.ac/institutes/grid.11485.39
188 schema:familyName Bodmer
189 schema:givenName Walter
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014444727044.65
191 rdf:type schema:Person
192 sg:person.0640640763.91 schema:affiliation https://www.grid.ac/institutes/grid.7737.4
193 schema:familyName Salovaara
194 schema:givenName Reijo
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0640640763.91
196 rdf:type schema:Person
197 sg:person.0663704010.47 schema:affiliation https://www.grid.ac/institutes/grid.15485.3d
198 schema:familyName Järvinen
199 schema:givenName Heikki
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663704010.47
201 rdf:type schema:Person
202 sg:person.0711054465.19 schema:affiliation https://www.grid.ac/institutes/grid.7737.4
203 schema:familyName Hemminki
204 schema:givenName Akseli
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0711054465.19
206 rdf:type schema:Person
207 sg:pub.10.1007/bf02050632 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019374232
208 https://doi.org/10.1007/bf02050632
209 rdf:type schema:CreativeWork
210 sg:pub.10.1038/ng1093-103 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016759702
211 https://doi.org/10.1038/ng1093-103
212 rdf:type schema:CreativeWork
213 sg:pub.10.1038/ng1295-402 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046708546
214 https://doi.org/10.1038/ng1295-402
215 rdf:type schema:CreativeWork
216 sg:pub.10.1038/nm0696-676 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001504269
217 https://doi.org/10.1038/nm0696-676
218 rdf:type schema:CreativeWork
219 https://app.dimensions.ai/details/publication/pub.1082754470 schema:CreativeWork
220 https://doi.org/10.1002/gcc.2870100403 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266174
221 rdf:type schema:CreativeWork
222 https://doi.org/10.1007/bf02050632 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019374232
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1055/s-2007-1005447 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057479689
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1056/nejm194912292412601 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053662187
227 rdf:type schema:CreativeWork
228 https://doi.org/10.1056/nejm198706113162404 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047925335
229 rdf:type schema:CreativeWork
230 https://doi.org/10.1126/science.1359641 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062477301
231 rdf:type schema:CreativeWork
232 https://www.grid.ac/institutes/grid.11485.39 schema:alternateName Cancer Research UK
233 schema:name The Cancer Genetics Laboratory, Imperial Cancer Research Fund, P. O. Box 123, London WC2A 3PX, England, U.K.
234 rdf:type schema:Organization
235 https://www.grid.ac/institutes/grid.15485.3d schema:alternateName Helsinki University Central Hospital
236 schema:name Second Department of Surgery, Helsinki University Central Hospital, Haartmaninkatu 4,00290 Helsinki, Finland.
237 rdf:type schema:Organization
238 https://www.grid.ac/institutes/grid.29980.3a schema:alternateName University of Otago
239 schema:name Department of Pathology, Dunedin School of Medicine, P.O. Box 913, Dunedin, New Zealand.
240 rdf:type schema:Organization
241 https://www.grid.ac/institutes/grid.42505.36 schema:alternateName University of Southern California
242 schema:name Department of Pathology, University of Southern California School of Medicine, 1200 N. State St. 736, Los Angeles, California 90033, USA.
243 rdf:type schema:Organization
244 https://www.grid.ac/institutes/grid.452433.7 schema:alternateName Finnish Red Cross
245 schema:name Finnish Red Cross Blood Transfusion Service, Kivihaantie 7,00310 Helsinki, Finland.
246 rdf:type schema:Organization
247 https://www.grid.ac/institutes/grid.7737.4 schema:alternateName University of Helsinki
248 schema:name Departments of Medical Genetics, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland.
249 Departments of Pathology, Haartman Institute, University of Helsinki, P. O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland.
250 rdf:type schema:Organization
 




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


...