{"id":"https://openalex.org/W2000691354","doi":"https://doi.org/10.1136/jmg.32.3.181","title":"A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.","display_name":"A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.","publication_year":1995,"publication_date":"1995-03-01","ids":{"openalex":"https://openalex.org/W2000691354","doi":"https://doi.org/10.1136/jmg.32.3.181","mag":"2000691354","pmid":"https://pubmed.ncbi.nlm.nih.gov/7783165","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1050313"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.32.3.181","doi":"https://doi.org/10.1136/jmg.32.3.181","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.32.3.181","pdf_url":"https://jmg.bmj.com/content/jmedgenet/32/3/181.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","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/32/3/181.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"T Webb","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T Webb","raw_affiliation_strings":["Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055374296","display_name":"D. J. Clarke","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D Clarke","raw_affiliation_strings":["Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110283470","display_name":"C Hardy","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C A Hardy","raw_affiliation_strings":["Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080061161","display_name":"M W Kilpatrick","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M W Kilpatrick","raw_affiliation_strings":["Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"J Corbett","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Corbett","raw_affiliation_strings":["Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5076216292","display_name":"M. Dahlitz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Dahlitz","raw_affiliation_strings":["Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Birmingham Maternity Hospital, Edgbaston, UK","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.2874,"has_fulltext":true,"cited_by_count":28,"citation_normalized_percentile":{"value":0.88214255,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"32","issue":"3","first_page":"181","last_page":"185"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":1.0,"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"}},{"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/T13258","display_name":"Williams Syndrome Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/prader-willi-syndrome","display_name":"Prader-Willi syndrome","score":1.0},{"id":"https://openalex.org/keywords/uniparental-disomy","display_name":"uniparental disomy","score":0.8730000257492065},{"id":"https://openalex.org/keywords/maternal-uniparental-disomy","display_name":"maternal uniparental disomy","score":0.843999981880188},{"id":"https://openalex.org/keywords/heterodisomy","display_name":"heterodisomy","score":0.8759999871253967},{"id":"https://openalex.org/keywords/isodisomy","display_name":"isodisomy","score":0.8299999833106995},{"id":"https://openalex.org/keywords/heterozygosity","display_name":"heterozygosity","score":0.7009999752044678},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.8550000190734863},{"id":"https://openalex.org/keywords/psychiatric-phenotypes","display_name":"psychiatric phenotypes","score":0.6240000128746033},{"id":"https://openalex.org/keywords/adult-patients","display_name":"adult patients","score":0.4869999885559082}],"concepts":[{"id":"https://openalex.org/C2780332060","wikidata":"https://www.wikidata.org/wiki/Q1207929","display_name":"Uniparental disomy","level":5,"score":0.8275223970413208},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8179352283477783},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6381528377532959},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.597671627998352},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5662567615509033},{"id":"https://openalex.org/C174475383","wikidata":"https://www.wikidata.org/wiki/Q246128","display_name":"Cytogenetics","level":4,"score":0.4729554355144501},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29623836278915405},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.28895771503448486},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.23862969875335693}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000782","descriptor_name":"Aneuploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002884","descriptor_name":"Chromosomes, Human, Pair 15","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003582","descriptor_name":"Cytogenetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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},{"descriptor_ui":"D008745","descriptor_name":"Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011218","descriptor_name":"Prader-Willi Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011218","descriptor_name":"Prader-Willi Syndrome","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1136/jmg.32.3.181","doi":"https://doi.org/10.1136/jmg.32.3.181","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.32.3.181","pdf_url":"https://jmg.bmj.com/content/jmedgenet/32/3/181.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:1050313","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1050313","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:7783165","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7783165","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":"Journal Article"}],"best_oa_location":{"id":"doi:10.1136/jmg.32.3.181","doi":"https://doi.org/10.1136/jmg.32.3.181","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.32.3.181","pdf_url":"https://jmg.bmj.com/content/jmedgenet/32/3/181.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":0.98580002784729}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.4399999976158142}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2000691354.pdf","grobid_xml":"https://content.openalex.org/works/W2000691354.grobid-xml"},"referenced_works_count":28,"referenced_works":["https://openalex.org/W93336318","https://openalex.org/W120257218","https://openalex.org/W1496780459","https://openalex.org/W1516919190","https://openalex.org/W1517455717","https://openalex.org/W1645492362","https://openalex.org/W1972618461","https://openalex.org/W1974268067","https://openalex.org/W1987320465","https://openalex.org/W1992218856","https://openalex.org/W1998983086","https://openalex.org/W2003297134","https://openalex.org/W2008061958","https://openalex.org/W2014584448","https://openalex.org/W2025911950","https://openalex.org/W2026187493","https://openalex.org/W2029299113","https://openalex.org/W2042813335","https://openalex.org/W2046408165","https://openalex.org/W2080191248","https://openalex.org/W2106593900","https://openalex.org/W2108707281","https://openalex.org/W2112616920","https://openalex.org/W2113728534","https://openalex.org/W2146781373","https://openalex.org/W2240615446","https://openalex.org/W2967138621","https://openalex.org/W4230234467"],"related_works":["https://openalex.org/W2077308073","https://openalex.org/W2620627618","https://openalex.org/W1496780459","https://openalex.org/W2077166561","https://openalex.org/W109481035","https://openalex.org/W1600571250","https://openalex.org/W2041666458","https://openalex.org/W2124689045","https://openalex.org/W2036197115","https://openalex.org/W2398954208"],"abstract_inverted_index":{"A":[0,20],"clinical,":[1],"cytogenetic,":[2],"and":[3],"molecular":[4,38],"study":[5],"has":[6],"been":[7],"carried":[8],"out":[9],"on":[10],"40":[11],"adults":[12],"with":[13,106,114],"a":[14,32,42,89,115],"firm":[15],"diagnosis":[16],"of":[17,44,48,57,86],"Prader-Willi":[18],"syndrome.":[19],"cytogenetically":[21],"detectable":[22,36],"deletion":[23,33,117],"was":[24,35,64],"observed":[25],"in":[26,118],"58%":[27],"while":[28,61],"further":[29],"subjects":[30],"had":[31,88,98],"which":[34],"by":[37],"methods":[39],"only,":[40],"giving":[41],"total":[43],"76%.":[45],"Four":[46],"cases":[47],"maternal":[49,107],"uniparental":[50],"disomy":[51],"(UPD)":[52],"were":[53,59,69],"all":[54,72],"female.":[55],"Three":[56],"them":[58,87],"heterodisomic":[60],"the":[62,95],"fourth":[63],"isodisomic.":[65],"Two":[66],"male":[67],"probands":[68],"heterozygous":[70],"at":[71],"loci":[73],"tested":[74],"yet":[75],"did":[76],"not":[77],"have":[78],"UPD.":[79],"Although":[80],"methylation":[81],"studies":[82,102],"showed":[83],"that":[84,104],"one":[85,97],"single":[90],"band":[91],"using":[92],"probe":[93],"PW71,":[94],"other":[96],"two":[99],"bands.":[100],"Psychiatric":[101],"suggest":[103],"females":[105],"UPD":[108],"are":[109],"indistinguishable":[110],"psychologically":[111],"from":[112],"those":[113],"paternal":[116],"15q11q13.":[119]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}