Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-12

AUTHORS

Hiroki Kano, Kenji Kurosawa, Emiko Horii, Shiro Ikegawa, Hideki Yoshikawa, Hiroki Kurahashi, Tatsushi Toda

ABSTRACT

Split-hand/split-foot malformation (SHFM) is a congenital limb malformation characterized by a median cleft of hand and/or foot due to the absence of central rays. Five loci for syndromic and non-syndromic SHFM, termed SHFM1-5, have been mapped to date. Recently, a 0.5 Mb tandem genomic duplication was found at chromosome 10q24 in SHFM3 families. To refine the minimum duplicated region and to further characterize the SHFM3 locus, we screened 28 non-syndromic SHFM families for tandem genomic duplication of 10q24 by Southern blot and sequence analysis of the dactylin gene. Of 28 families, only two showed genomic rearrangements. Representative patients from the two families exhibit typical SHFM, with symmetrically affected hands and feet. One patient is a familial case with a 511,661 bp tandem duplication, whereas the second is a sporadic case arising from a de novo, 447,338 bp duplication of maternal origin. The smaller duplication in the second patient contained the LBX1, BTRC, POLL, and DPCD genes and a disrupted extra copy of the dactylin gene, and was nearly identical to the smallest known duplicated region of SHFM3. Our results indicate that genomic rearrangement of SHFM3 is rare among non-syndromic SHFM patients and emphasize the importance of screening for genomic rearrangements even in sporadic cases of SHFM. More... »

PAGES

477

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-005-0074-0

DOI

http://dx.doi.org/10.1007/s00439-005-0074-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008637917

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16235095


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": "Chromosomes, Human, Pair 10", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "F-Box Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Foot Deformities, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Rearrangement", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hand Deformities, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Osaka University", 
          "id": "https://www.grid.ac/institutes/grid.136593.b", 
          "name": [
            "Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, 2-2-B9, Yamadaoka, 565-0871, Suita, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kano", 
        "givenName": "Hiroki", 
        "id": "sg:person.01013711561.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013711561.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kanagawa Children's Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.414947.b", 
          "name": [
            "Division of Medical Genetics, Kanagawa Children\u2019s Medical Center, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kurosawa", 
        "givenName": "Kenji", 
        "id": "sg:person.01256463154.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256463154.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Nagoya University", 
          "id": "https://www.grid.ac/institutes/grid.27476.30", 
          "name": [
            "Department of Hand Surgery, Nagoya University School of Medicine, Nagoya, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Horii", 
        "givenName": "Emiko", 
        "id": "sg:person.0753515007.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0753515007.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "RIKEN", 
          "id": "https://www.grid.ac/institutes/grid.7597.c", 
          "name": [
            "Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ikegawa", 
        "givenName": "Shiro", 
        "id": "sg:person.0602347562.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602347562.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Osaka University", 
          "id": "https://www.grid.ac/institutes/grid.136593.b", 
          "name": [
            "Department of Orthopedic Surgery, Osaka University Graduate School of Medicine, Suita, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yoshikawa", 
        "givenName": "Hideki", 
        "id": "sg:person.01270446673.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270446673.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Fujita Health University", 
          "id": "https://www.grid.ac/institutes/grid.256115.4", 
          "name": [
            "Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kurahashi", 
        "givenName": "Hiroki", 
        "id": "sg:person.01350204623.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350204623.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Osaka University", 
          "id": "https://www.grid.ac/institutes/grid.136593.b", 
          "name": [
            "Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, 2-2-B9, Yamadaoka, 565-0871, Suita, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Toda", 
        "givenName": "Tatsushi", 
        "id": "sg:person.01067332025.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01067332025.58"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1136/jmg.32.5.375", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000370355"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320350118", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001503525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320350118", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001503525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/12709", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001758524", 
          "https://doi.org/10.1038/12709"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/12709", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001758524", 
          "https://doi.org/10.1038/12709"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320550204", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004257277"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320550204", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004257277"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddg212", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004477663"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00591081", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009551764", 
          "https://doi.org/10.1007/bf00591081"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00591081", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009551764", 
          "https://doi.org/10.1007/bf00591081"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)81646-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011899030"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00230215", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014342027", 
          "https://doi.org/10.1007/bf00230215"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00230215", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014342027", 
          "https://doi.org/10.1007/bf00230215"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/bbrc.1999.0963", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019668445"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<427::aid-ajmg16>3.0.co;2-q", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025867190"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1995.9981", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028137818"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.28.7.479", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029099943"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.33.12.996", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032967573"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320470606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036213378"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320470606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036213378"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320320212", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043752321"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320320212", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043752321"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1995.tb03930.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050592956"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320560102", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053716465"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320560102", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053716465"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302403", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609978"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302972", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610518"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/323123", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058624048"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/338921", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058638007"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/4.11.2165", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645251"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.jhered.a109486", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1082263920"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082614279", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2005-12", 
    "datePublishedReg": "2005-12-01", 
    "description": "Split-hand/split-foot malformation (SHFM) is a congenital limb malformation characterized by a median cleft of hand and/or foot due to the absence of central rays. Five loci for syndromic and non-syndromic SHFM, termed SHFM1-5, have been mapped to date. Recently, a 0.5 Mb tandem genomic duplication was found at chromosome 10q24 in SHFM3 families. To refine the minimum duplicated region and to further characterize the SHFM3 locus, we screened 28 non-syndromic SHFM families for tandem genomic duplication of 10q24 by Southern blot and sequence analysis of the dactylin gene. Of 28 families, only two showed genomic rearrangements. Representative patients from the two families exhibit typical SHFM, with symmetrically affected hands and feet. One patient is a familial case with a 511,661 bp tandem duplication, whereas the second is a sporadic case arising from a de novo, 447,338 bp duplication of maternal origin. The smaller duplication in the second patient contained the LBX1, BTRC, POLL, and DPCD genes and a disrupted extra copy of the dactylin gene, and was nearly identical to the smallest known duplicated region of SHFM3. Our results indicate that genomic rearrangement of SHFM3 is rare among non-syndromic SHFM patients and emphasize the importance of screening for genomic rearrangements even in sporadic cases of SHFM.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00439-005-0074-0", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3-4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "118"
      }
    ], 
    "name": "Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation", 
    "pagination": "477", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "2927482ded94280cc86aaf9155a00f2b0386b69a2a72ed11ae317183b81e12ab"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16235095"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7613873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00439-005-0074-0"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1008637917"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00439-005-0074-0", 
      "https://app.dimensions.ai/details/publication/pub.1008637917"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:23", 
    "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_87091_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs00439-005-0074-0"
  }
]
 

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/s00439-005-0074-0'

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/s00439-005-0074-0'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-005-0074-0'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-005-0074-0'


 

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

234 TRIPLES      21 PREDICATES      62 URIs      30 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00439-005-0074-0 schema:about N2496ad4049464b7b9f534291e4503169
2 N30b46b5592af416a867ca9891e904011
3 N634481d296ca44308ee4578dc0480833
4 Nb2fcc651f4744f0baed1d2f855c26565
5 Nc2a798c5287f45438a9aab7c63b94e89
6 Nc5b7acc8a8514dbb98fb026a64016b12
7 Nd0c6460b1c79481985173fdd5cd5d67d
8 Ne18ec871794349a081d562124e4b1b5c
9 Nf3e54b3300264ba2836a9eb86610ece3
10 anzsrc-for:06
11 anzsrc-for:0604
12 schema:author N39e7f3215bf5453da8a16ba1b53378ab
13 schema:citation sg:pub.10.1007/bf00230215
14 sg:pub.10.1007/bf00591081
15 sg:pub.10.1038/12709
16 https://app.dimensions.ai/details/publication/pub.1082614279
17 https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<427::aid-ajmg16>3.0.co;2-q
18 https://doi.org/10.1002/ajmg.1320320212
19 https://doi.org/10.1002/ajmg.1320350118
20 https://doi.org/10.1002/ajmg.1320470606
21 https://doi.org/10.1002/ajmg.1320550204
22 https://doi.org/10.1002/ajmg.1320560102
23 https://doi.org/10.1006/bbrc.1999.0963
24 https://doi.org/10.1006/geno.1995.9981
25 https://doi.org/10.1016/s0092-8674(00)81646-3
26 https://doi.org/10.1086/302403
27 https://doi.org/10.1086/302972
28 https://doi.org/10.1086/323123
29 https://doi.org/10.1086/338921
30 https://doi.org/10.1093/hmg/4.11.2165
31 https://doi.org/10.1093/hmg/ddg212
32 https://doi.org/10.1093/oxfordjournals.jhered.a109486
33 https://doi.org/10.1111/j.1399-0004.1995.tb03930.x
34 https://doi.org/10.1136/jmg.28.7.479
35 https://doi.org/10.1136/jmg.32.5.375
36 https://doi.org/10.1136/jmg.33.12.996
37 schema:datePublished 2005-12
38 schema:datePublishedReg 2005-12-01
39 schema:description Split-hand/split-foot malformation (SHFM) is a congenital limb malformation characterized by a median cleft of hand and/or foot due to the absence of central rays. Five loci for syndromic and non-syndromic SHFM, termed SHFM1-5, have been mapped to date. Recently, a 0.5 Mb tandem genomic duplication was found at chromosome 10q24 in SHFM3 families. To refine the minimum duplicated region and to further characterize the SHFM3 locus, we screened 28 non-syndromic SHFM families for tandem genomic duplication of 10q24 by Southern blot and sequence analysis of the dactylin gene. Of 28 families, only two showed genomic rearrangements. Representative patients from the two families exhibit typical SHFM, with symmetrically affected hands and feet. One patient is a familial case with a 511,661 bp tandem duplication, whereas the second is a sporadic case arising from a de novo, 447,338 bp duplication of maternal origin. The smaller duplication in the second patient contained the LBX1, BTRC, POLL, and DPCD genes and a disrupted extra copy of the dactylin gene, and was nearly identical to the smallest known duplicated region of SHFM3. Our results indicate that genomic rearrangement of SHFM3 is rare among non-syndromic SHFM patients and emphasize the importance of screening for genomic rearrangements even in sporadic cases of SHFM.
40 schema:genre research_article
41 schema:inLanguage en
42 schema:isAccessibleForFree false
43 schema:isPartOf N30f92de411c14d789eb6aec3b905408f
44 N9fd735c04070451fa42eab2faacbc1e2
45 sg:journal.1085982
46 schema:name Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation
47 schema:pagination 477
48 schema:productId N08823f4a292b4ac3b0ab6ff1feb57577
49 N120a73bda1844bd78a25a747dd9a1a47
50 N797ba4e6b9ca44849eb1c5b56f336f88
51 N81a5c746b95f4742b1a6c017afb5dc05
52 N8884131ae60e42688a377a4744f73c3d
53 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008637917
54 https://doi.org/10.1007/s00439-005-0074-0
55 schema:sdDatePublished 2019-04-11T12:23
56 schema:sdLicense https://scigraph.springernature.com/explorer/license/
57 schema:sdPublisher Nd4f68b1104dd47d1bdcb74b442a82c27
58 schema:url https://link.springer.com/10.1007%2Fs00439-005-0074-0
59 sgo:license sg:explorer/license/
60 sgo:sdDataset articles
61 rdf:type schema:ScholarlyArticle
62 N08823f4a292b4ac3b0ab6ff1feb57577 schema:name dimensions_id
63 schema:value pub.1008637917
64 rdf:type schema:PropertyValue
65 N120a73bda1844bd78a25a747dd9a1a47 schema:name readcube_id
66 schema:value 2927482ded94280cc86aaf9155a00f2b0386b69a2a72ed11ae317183b81e12ab
67 rdf:type schema:PropertyValue
68 N2496ad4049464b7b9f534291e4503169 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
69 schema:name Hand Deformities, Congenital
70 rdf:type schema:DefinedTerm
71 N30b46b5592af416a867ca9891e904011 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Foot Deformities, Congenital
73 rdf:type schema:DefinedTerm
74 N30f92de411c14d789eb6aec3b905408f schema:volumeNumber 118
75 rdf:type schema:PublicationVolume
76 N31e2a20593124093b6913d7ba3b5f36f rdf:first sg:person.01350204623.14
77 rdf:rest N886e4f50e15446489f417b7d493b07cf
78 N39e7f3215bf5453da8a16ba1b53378ab rdf:first sg:person.01013711561.70
79 rdf:rest N8d0f52bc1ad34dc9bd70fd299ab0069b
80 N634481d296ca44308ee4578dc0480833 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name F-Box Proteins
82 rdf:type schema:DefinedTerm
83 N6d506649282e485ca86a7bc3aae9115a rdf:first sg:person.0602347562.52
84 rdf:rest Nac6016239927434788584364d9f9133d
85 N797ba4e6b9ca44849eb1c5b56f336f88 schema:name pubmed_id
86 schema:value 16235095
87 rdf:type schema:PropertyValue
88 N81a5c746b95f4742b1a6c017afb5dc05 schema:name doi
89 schema:value 10.1007/s00439-005-0074-0
90 rdf:type schema:PropertyValue
91 N886e4f50e15446489f417b7d493b07cf rdf:first sg:person.01067332025.58
92 rdf:rest rdf:nil
93 N8884131ae60e42688a377a4744f73c3d schema:name nlm_unique_id
94 schema:value 7613873
95 rdf:type schema:PropertyValue
96 N8d0f52bc1ad34dc9bd70fd299ab0069b rdf:first sg:person.01256463154.70
97 rdf:rest Ne5fd495cd58040818a570dfe06500abd
98 N9fd735c04070451fa42eab2faacbc1e2 schema:issueNumber 3-4
99 rdf:type schema:PublicationIssue
100 Nac6016239927434788584364d9f9133d rdf:first sg:person.01270446673.58
101 rdf:rest N31e2a20593124093b6913d7ba3b5f36f
102 Nb2fcc651f4744f0baed1d2f855c26565 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Genetic Testing
104 rdf:type schema:DefinedTerm
105 Nc2a798c5287f45438a9aab7c63b94e89 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Chromosomes, Human, Pair 10
107 rdf:type schema:DefinedTerm
108 Nc5b7acc8a8514dbb98fb026a64016b12 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Syndrome
110 rdf:type schema:DefinedTerm
111 Nd0c6460b1c79481985173fdd5cd5d67d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Pedigree
113 rdf:type schema:DefinedTerm
114 Nd4f68b1104dd47d1bdcb74b442a82c27 schema:name Springer Nature - SN SciGraph project
115 rdf:type schema:Organization
116 Ne18ec871794349a081d562124e4b1b5c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Gene Rearrangement
118 rdf:type schema:DefinedTerm
119 Ne5fd495cd58040818a570dfe06500abd rdf:first sg:person.0753515007.15
120 rdf:rest N6d506649282e485ca86a7bc3aae9115a
121 Nf3e54b3300264ba2836a9eb86610ece3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Humans
123 rdf:type schema:DefinedTerm
124 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
125 schema:name Biological Sciences
126 rdf:type schema:DefinedTerm
127 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
128 schema:name Genetics
129 rdf:type schema:DefinedTerm
130 sg:journal.1085982 schema:issn 0340-6717
131 1432-1203
132 schema:name Human Genetics
133 rdf:type schema:Periodical
134 sg:person.01013711561.70 schema:affiliation https://www.grid.ac/institutes/grid.136593.b
135 schema:familyName Kano
136 schema:givenName Hiroki
137 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013711561.70
138 rdf:type schema:Person
139 sg:person.01067332025.58 schema:affiliation https://www.grid.ac/institutes/grid.136593.b
140 schema:familyName Toda
141 schema:givenName Tatsushi
142 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01067332025.58
143 rdf:type schema:Person
144 sg:person.01256463154.70 schema:affiliation https://www.grid.ac/institutes/grid.414947.b
145 schema:familyName Kurosawa
146 schema:givenName Kenji
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256463154.70
148 rdf:type schema:Person
149 sg:person.01270446673.58 schema:affiliation https://www.grid.ac/institutes/grid.136593.b
150 schema:familyName Yoshikawa
151 schema:givenName Hideki
152 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270446673.58
153 rdf:type schema:Person
154 sg:person.01350204623.14 schema:affiliation https://www.grid.ac/institutes/grid.256115.4
155 schema:familyName Kurahashi
156 schema:givenName Hiroki
157 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350204623.14
158 rdf:type schema:Person
159 sg:person.0602347562.52 schema:affiliation https://www.grid.ac/institutes/grid.7597.c
160 schema:familyName Ikegawa
161 schema:givenName Shiro
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602347562.52
163 rdf:type schema:Person
164 sg:person.0753515007.15 schema:affiliation https://www.grid.ac/institutes/grid.27476.30
165 schema:familyName Horii
166 schema:givenName Emiko
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0753515007.15
168 rdf:type schema:Person
169 sg:pub.10.1007/bf00230215 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014342027
170 https://doi.org/10.1007/bf00230215
171 rdf:type schema:CreativeWork
172 sg:pub.10.1007/bf00591081 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009551764
173 https://doi.org/10.1007/bf00591081
174 rdf:type schema:CreativeWork
175 sg:pub.10.1038/12709 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001758524
176 https://doi.org/10.1038/12709
177 rdf:type schema:CreativeWork
178 https://app.dimensions.ai/details/publication/pub.1082614279 schema:CreativeWork
179 https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<427::aid-ajmg16>3.0.co;2-q schema:sameAs https://app.dimensions.ai/details/publication/pub.1025867190
180 rdf:type schema:CreativeWork
181 https://doi.org/10.1002/ajmg.1320320212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043752321
182 rdf:type schema:CreativeWork
183 https://doi.org/10.1002/ajmg.1320350118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001503525
184 rdf:type schema:CreativeWork
185 https://doi.org/10.1002/ajmg.1320470606 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036213378
186 rdf:type schema:CreativeWork
187 https://doi.org/10.1002/ajmg.1320550204 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004257277
188 rdf:type schema:CreativeWork
189 https://doi.org/10.1002/ajmg.1320560102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053716465
190 rdf:type schema:CreativeWork
191 https://doi.org/10.1006/bbrc.1999.0963 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019668445
192 rdf:type schema:CreativeWork
193 https://doi.org/10.1006/geno.1995.9981 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028137818
194 rdf:type schema:CreativeWork
195 https://doi.org/10.1016/s0092-8674(00)81646-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011899030
196 rdf:type schema:CreativeWork
197 https://doi.org/10.1086/302403 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609978
198 rdf:type schema:CreativeWork
199 https://doi.org/10.1086/302972 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610518
200 rdf:type schema:CreativeWork
201 https://doi.org/10.1086/323123 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058624048
202 rdf:type schema:CreativeWork
203 https://doi.org/10.1086/338921 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058638007
204 rdf:type schema:CreativeWork
205 https://doi.org/10.1093/hmg/4.11.2165 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645251
206 rdf:type schema:CreativeWork
207 https://doi.org/10.1093/hmg/ddg212 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004477663
208 rdf:type schema:CreativeWork
209 https://doi.org/10.1093/oxfordjournals.jhered.a109486 schema:sameAs https://app.dimensions.ai/details/publication/pub.1082263920
210 rdf:type schema:CreativeWork
211 https://doi.org/10.1111/j.1399-0004.1995.tb03930.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1050592956
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1136/jmg.28.7.479 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029099943
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1136/jmg.32.5.375 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000370355
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1136/jmg.33.12.996 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032967573
218 rdf:type schema:CreativeWork
219 https://www.grid.ac/institutes/grid.136593.b schema:alternateName Osaka University
220 schema:name Department of Orthopedic Surgery, Osaka University Graduate School of Medicine, Suita, Japan
221 Division of Clinical Genetics, Department of Medical Genetics, Osaka University Graduate School of Medicine, 2-2-B9, Yamadaoka, 565-0871, Suita, Japan
222 rdf:type schema:Organization
223 https://www.grid.ac/institutes/grid.256115.4 schema:alternateName Fujita Health University
224 schema:name Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan
225 rdf:type schema:Organization
226 https://www.grid.ac/institutes/grid.27476.30 schema:alternateName Nagoya University
227 schema:name Department of Hand Surgery, Nagoya University School of Medicine, Nagoya, Japan
228 rdf:type schema:Organization
229 https://www.grid.ac/institutes/grid.414947.b schema:alternateName Kanagawa Children's Medical Center
230 schema:name Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
231 rdf:type schema:Organization
232 https://www.grid.ac/institutes/grid.7597.c schema:alternateName RIKEN
233 schema:name Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan
234 rdf:type schema:Organization
 




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


...