{"id":"https://openalex.org/W1996193992","doi":"https://doi.org/10.1038/jhg.2010.142","title":"Androgenetic/biparental mosaicism in a girl with Beckwith\u2013Wiedemann syndrome-like and upd(14)pat-like phenotypes","display_name":"Androgenetic/biparental mosaicism in a girl with Beckwith\u2013Wiedemann syndrome-like and upd(14)pat-like phenotypes","publication_year":2010,"publication_date":"2010-11-11","ids":{"openalex":"https://openalex.org/W1996193992","doi":"https://doi.org/10.1038/jhg.2010.142","mag":"1996193992","pmid":"https://pubmed.ncbi.nlm.nih.gov/21068742"},"language":"en","primary_location":{"id":"doi:10.1038/jhg.2010.142","doi":"https://doi.org/10.1038/jhg.2010.142","is_oa":false,"landing_page_url":"https://doi.org/10.1038/jhg.2010.142","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5019220293","display_name":"Kazuki Yamazawa","orcid":"https://orcid.org/0000-0003-4895-2759","observed_orcids":["https://orcid.org/0000-0003-4895-2759"]},"institutions":[{"id":"https://openalex.org/I4405286413","display_name":"National Research Institute for Child Health and Development","ror":"https://ror.org/022h8bf50","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210132193","https://openalex.org/I4405286413"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazuki Yamazawa","raw_affiliation_strings":["Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan","institution_ids":["https://openalex.org/I4405286413"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016886169","display_name":"Kazuhiko Nakabayashi","orcid":"https://orcid.org/0000-0003-2927-0963","observed_orcids":["https://orcid.org/0000-0003-2927-0963"]},"institutions":[{"id":"https://openalex.org/I4405286413","display_name":"National Research Institute for Child Health and Development","ror":"https://ror.org/022h8bf50","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210132193","https://openalex.org/I4405286413"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazuhiko Nakabayashi","raw_affiliation_strings":["Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan","institution_ids":["https://openalex.org/I4405286413"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113911454","display_name":"Kentaro Matsuoka","orcid":"https://orcid.org/0000-0002-8687-7625","observed_orcids":["https://orcid.org/0000-0002-8687-7625"]},"institutions":[{"id":"https://openalex.org/I4405284850","display_name":"National Medical Center for Children and Mothers","ror":"https://ror.org/04a7pdj13","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210132193","https://openalex.org/I4405284850"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kentaro Matsuoka","raw_affiliation_strings":["Division of Pathology, National Medical Center for Children and Mothers, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Pathology, National Medical Center for Children and Mothers, Tokyo, Japan","institution_ids":["https://openalex.org/I4405284850"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080025661","display_name":"Keiko Masubara","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405286413","display_name":"National Research Institute for Child Health and Development","ror":"https://ror.org/022h8bf50","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210132193","https://openalex.org/I4405286413"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Keiko Masubara","raw_affiliation_strings":["Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan","institution_ids":["https://openalex.org/I4405286413"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073839222","display_name":"Kenichiro Hata","orcid":"https://orcid.org/0000-0002-7809-7637","observed_orcids":["https://orcid.org/0000-0002-7809-7637","https://orcid.org/0009-0005-1660-7071"]},"institutions":[{"id":"https://openalex.org/I4405286413","display_name":"National Research Institute for Child Health and Development","ror":"https://ror.org/022h8bf50","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210132193","https://openalex.org/I4405286413"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kenichiro Hata","raw_affiliation_strings":["Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan","institution_ids":["https://openalex.org/I4405286413"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003114313","display_name":"Reiko Horikawa","orcid":"https://orcid.org/0000-0003-3429-3246","observed_orcids":["https://orcid.org/0000-0003-3429-3246"]},"institutions":[{"id":"https://openalex.org/I4405284850","display_name":"National Medical Center for Children and Mothers","ror":"https://ror.org/04a7pdj13","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210132193","https://openalex.org/I4405284850"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Reiko Horikawa","raw_affiliation_strings":["Division of Endocrinology and Metabolism, National Medical Center for Children and Mothers, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Metabolism, National Medical Center for Children and Mothers, Tokyo, Japan","institution_ids":["https://openalex.org/I4405284850"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008536405","display_name":"Tsutomu Ogata","orcid":"https://orcid.org/0000-0001-7178-9991","observed_orcids":["https://orcid.org/0000-0001-7178-9991","https://orcid.org/0009-0001-4681-470X"]},"institutions":[{"id":"https://openalex.org/I4405286413","display_name":"National Research Institute for Child Health and Development","ror":"https://ror.org/022h8bf50","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210132193","https://openalex.org/I4405286413"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tsutomu Ogata","raw_affiliation_strings":["Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan","institution_ids":["https://openalex.org/I4405286413"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":1.6444,"has_fulltext":true,"cited_by_count":27,"citation_normalized_percentile":{"value":0.83265759,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"56","issue":"1","first_page":"91","last_page":"93"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.9994999766349792,"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":0.9994999766349792,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","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/beckwith-wiedemann-syndrome","display_name":"Beckwith-Wiedemann syndrome","score":0.9860000014305115},{"id":"https://openalex.org/keywords/snrpn","display_name":"SNRPN","score":0.550000011920929},{"id":"https://openalex.org/keywords/genomic-imprinting","display_name":"genomic imprinting","score":0.8790000081062317},{"id":"https://openalex.org/keywords/endoreplication","display_name":"endoreplication","score":0.7289999723434448},{"id":"https://openalex.org/keywords/differentially-methylated-regions","display_name":"differentially methylated regions","score":0.8149999976158142},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.6869999766349792},{"id":"https://openalex.org/keywords/imprinting-disorders","display_name":"imprinting disorders","score":0.6100000143051147}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8152843713760376},{"id":"https://openalex.org/C201492766","wikidata":"https://www.wikidata.org/wiki/Q84087","display_name":"Genomic imprinting","level":5,"score":0.7748372554779053},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7359119653701782},{"id":"https://openalex.org/C2777575177","wikidata":"https://www.wikidata.org/wiki/Q521863","display_name":"Beckwith\u2013Wiedemann syndrome","level":5,"score":0.6302774548530579},{"id":"https://openalex.org/C2780332060","wikidata":"https://www.wikidata.org/wiki/Q1207929","display_name":"Uniparental disomy","level":5,"score":0.5478318929672241},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.5233180522918701},{"id":"https://openalex.org/C110758877","wikidata":"https://www.wikidata.org/wiki/Q2614103","display_name":"Pronucleus","level":5,"score":0.5033182501792908},{"id":"https://openalex.org/C94715292","wikidata":"https://www.wikidata.org/wiki/Q624349","display_name":"Imprinting (psychology)","level":3,"score":0.4765228033065796},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4739282727241516},{"id":"https://openalex.org/C2909946033","wikidata":"https://www.wikidata.org/wiki/Q2614103","display_name":"Male pronucleus","level":5,"score":0.4197392463684082},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.29902663826942444},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.2738422751426697},{"id":"https://openalex.org/C196843134","wikidata":"https://www.wikidata.org/wiki/Q33196","display_name":"Embryo","level":2,"score":0.1562618911266327},{"id":"https://openalex.org/C28748434","wikidata":"https://www.wikidata.org/wiki/Q170145","display_name":"Zygote","level":4,"score":0.12466183304786682},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11094099283218384},{"id":"https://openalex.org/C87073359","wikidata":"https://www.wikidata.org/wiki/Q33196","display_name":"Embryogenesis","level":3,"score":0.09208396077156067},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000096803","descriptor_name":"Imprinting Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001506","descriptor_name":"Beckwith-Wiedemann Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002883","descriptor_name":"Chromosomes, Human, Pair 14","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024182","descriptor_name":"Uniparental Disomy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1038/jhg.2010.142","doi":"https://doi.org/10.1038/jhg.2010.142","is_oa":false,"landing_page_url":"https://doi.org/10.1038/jhg.2010.142","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:21068742","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21068742","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 human genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9074000120162964}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G2447924384","display_name":"Demonstration of Novel Brain Molecular Mechanisms Regulating Reproduction","funder_award_id":"22227002","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1519918067","https://openalex.org/W1589590998","https://openalex.org/W1976986057","https://openalex.org/W1978386737","https://openalex.org/W2001766467","https://openalex.org/W2029912315","https://openalex.org/W2037063595","https://openalex.org/W2038434389","https://openalex.org/W2040210345","https://openalex.org/W2061766242","https://openalex.org/W2075805514","https://openalex.org/W2101646368","https://openalex.org/W2108989136","https://openalex.org/W2124534418","https://openalex.org/W2126058835","https://openalex.org/W2127844195","https://openalex.org/W2129882885","https://openalex.org/W2129908510","https://openalex.org/W2138775249"],"related_works":["https://openalex.org/W2001031298","https://openalex.org/W2946968670","https://openalex.org/W2168977145","https://openalex.org/W2953099871","https://openalex.org/W4213283466","https://openalex.org/W2005772615","https://openalex.org/W2319551347","https://openalex.org/W2040210345","https://openalex.org/W7165664729","https://openalex.org/W2141791342"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
