{"id":"https://openalex.org/W1996550752","doi":"https://doi.org/10.1136/jmg.32.5.375","title":"Bilateral split hand/foot malformation and inv(7)(p22q21.3).","display_name":"Bilateral split hand/foot malformation and inv(7)(p22q21.3).","publication_year":1995,"publication_date":"1995-05-01","ids":{"openalex":"https://openalex.org/W1996550752","doi":"https://doi.org/10.1136/jmg.32.5.375","mag":"1996550752","pmid":"https://pubmed.ncbi.nlm.nih.gov/7616545","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1050433"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.32.5.375","doi":"https://doi.org/10.1136/jmg.32.5.375","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.32.5.375","pdf_url":"https://jmg.bmj.com/content/jmedgenet/32/5/375.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/32/5/375.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110415140","display_name":"Jan Maarten Cobben","orcid":"https://orcid.org/0000-0002-3551-543X","observed_orcids":["https://orcid.org/0000-0002-3551-543X"]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"J M Cobben","raw_affiliation_strings":["Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113485924","display_name":"J. B. G. M. Verheij","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"J B Verheij","raw_affiliation_strings":["Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110413784","display_name":"W. H. Eisma","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"W H Eisma","raw_affiliation_strings":["Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113576867","display_name":"P. H. Robinson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"P H Robinson","raw_affiliation_strings":["Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072497731","display_name":"Rein P. Zwierstra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"R P Zwierstra","raw_affiliation_strings":["Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111643727","display_name":"Beike K. Leegte","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"B Leegte","raw_affiliation_strings":["Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013389243","display_name":"S\u00e9rgio M.M.J. Castedo","orcid":"https://orcid.org/0000-0003-0582-5178","observed_orcids":["https://orcid.org/0000-0003-0582-5178"]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"S Castedo","raw_affiliation_strings":["Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1334415907"],"apc_list":null,"apc_paid":null,"fwci":1.551,"has_fulltext":true,"cited_by_count":86,"citation_normalized_percentile":{"value":0.83381089,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":100},"biblio":{"volume":"32","issue":"5","first_page":"375","last_page":"378"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/arteriovenous-malformation","display_name":"arteriovenous malformation","score":0.953000009059906},{"id":"https://openalex.org/keywords/locus-mapping","display_name":"locus mapping","score":0.5630000233650208}],"concepts":[{"id":"https://openalex.org/C3020253223","wikidata":"https://www.wikidata.org/wiki/Q7748172","display_name":"Long arm","level":4,"score":0.7407639026641846},{"id":"https://openalex.org/C165984737","wikidata":"https://www.wikidata.org/wiki/Q1070877","display_name":"Chromosomal inversion","level":5,"score":0.6895845532417297},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6494746208190918},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5630335807800293},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.5197538733482361},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48392945528030396},{"id":"https://openalex.org/C2780238508","wikidata":"https://www.wikidata.org/wiki/Q840604","display_name":"Chromosome 9","level":4,"score":0.4311105012893677},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4299040138721466},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.1720852553844452},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12452864646911621}],"mesh":[{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005532","descriptor_name":"Foot Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006228","descriptor_name":"Hand Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007446","descriptor_name":"Chromosome Inversion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1136/jmg.32.5.375","doi":"https://doi.org/10.1136/jmg.32.5.375","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.32.5.375","pdf_url":"https://jmg.bmj.com/content/jmedgenet/32/5/375.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1050433","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1050433","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Med Genet","raw_type":"Text"},{"id":"pmid:7616545","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7616545","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of medical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:pure.rug.nl:openaire_cris_publications/ece6db83-f0a4-4514-8cf3-e74806aaba5d","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11370/ece6db83-f0a4-4514-8cf3-e74806aaba5d","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"COBBEN, JM, VERHEIJ, JBGM, EISMA, WH, ROBINSON, PH, ZWIERSTRA, RP, LEEGTE, B & CASTEDO, S 1995, 'BILATERAL SPLIT HAND FOOT MALFORMATION AND INV(7)(P22Q21.3)', Journal of Medical Genetics, vol. 32, no. 5, pp. 375-378.","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:rug:oai:pure.rug.nl:publications/ece6db83-f0a4-4514-8cf3-e74806aaba5d","doi":null,"is_oa":false,"landing_page_url":"https://research.rug.nl/en/publications/ece6db83-f0a4-4514-8cf3-e74806aaba5d","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"JOURNAL OF MEDICAL GENETICS, 32(5), 375 - 378. BMJ PUBLISHING GROUP","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1136/jmg.32.5.375","doi":"https://doi.org/10.1136/jmg.32.5.375","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.32.5.375","pdf_url":"https://jmg.bmj.com/content/jmedgenet/32/5/375.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8199999928474426}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1996550752.pdf","grobid_xml":"https://content.openalex.org/works/W1996550752.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W268005940","https://openalex.org/W1525390541","https://openalex.org/W1971115719","https://openalex.org/W2005101693","https://openalex.org/W2007893910","https://openalex.org/W2008354356","https://openalex.org/W2011411810","https://openalex.org/W2057738106","https://openalex.org/W2061449102","https://openalex.org/W2080594971","https://openalex.org/W2105328344","https://openalex.org/W2119861485","https://openalex.org/W2125983178","https://openalex.org/W2154639512","https://openalex.org/W2396208516","https://openalex.org/W2409347110","https://openalex.org/W2932458285","https://openalex.org/W4299922003","https://openalex.org/W6849721430"],"related_works":["https://openalex.org/W2887107034","https://openalex.org/W2005101693","https://openalex.org/W2129875194","https://openalex.org/W2080594971","https://openalex.org/W268005940","https://openalex.org/W2524553647","https://openalex.org/W1992570803","https://openalex.org/W2951756690","https://openalex.org/W2074356742","https://openalex.org/W2416688886"],"abstract_inverted_index":{"A":[0],"boy":[1],"with":[2],"typical":[3],"tetramelic":[4],"split":[5],"hands":[6],"and":[7,37],"feet":[8],"is":[9],"described.":[10],"In":[11],"addition,":[12],"there":[13],"was":[14],"a":[15,26,52],"large":[16],"arteriovenous":[17],"malformation":[18],"of":[19,29,34,51,63],"the":[20,35,41,48,60,69],"right":[21],"arm.":[22],"Chromosome":[23],"studies":[24,39],"showed":[25],"pericentric":[27],"inversion":[28],"chromosome":[30,38,64],"7:":[31],"46,XY,inv(7)(p22q21.3).":[32],"Inspection":[33],"extremities":[36],"in":[40,68],"parents":[42],"were":[43],"normal.":[44],"This":[45],"case":[46],"confirms":[47],"suggested":[49],"localisation":[50],"locus,":[53],"important":[54],"for":[55],"early":[56],"limb":[57],"differentiation,":[58],"on":[59],"long":[61],"arm":[62],"7,":[65],"most":[66],"probably":[67],"chromosomal":[70],"region":[71],"7q21.2-7q21.3.":[72],"Previously":[73],"reported":[74],"cases":[75],"are":[76],"reviewed":[77],"briefly.":[78]},"counts_by_year":[{"year":2018,"cited_by_count":32},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
