{"id":"https://openalex.org/W2097689482","doi":"https://doi.org/10.1210/jc.2008-0673","title":"Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism","display_name":"Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism","publication_year":2008,"publication_date":"2008-09-17","ids":{"openalex":"https://openalex.org/W2097689482","doi":"https://doi.org/10.1210/jc.2008-0673","mag":"2097689482","pmid":"https://pubmed.ncbi.nlm.nih.gov/18796520"},"language":"en","primary_location":{"id":"doi:10.1210/jc.2008-0673","doi":"https://doi.org/10.1210/jc.2008-0673","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2008-0673","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","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/A5039075939","display_name":"L\u00e9na Damaj","orcid":"https://orcid.org/0000-0001-5364-7084","observed_orcids":["https://orcid.org/0000-0001-5364-7084"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210086369","display_name":"Institut Necker Enfants Malades","ror":"https://ror.org/000nhq538","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210086369","https://openalex.org/I4210096427"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L. Damaj","raw_affiliation_strings":["Department of Pathology, H\u00f4pital Necker-Enfants Malades, Assistance Publique-H\u00f4pitaux de Paris, Service d'Anatomie Pathologique and Tumorotheque, 149 rue de S\u00e8vres, 75015 Paris, France. francis.jaubert@nck.aphp.fr","Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, H\u00f4pital Necker-Enfants Malades, Assistance Publique-H\u00f4pitaux de Paris, Service d'Anatomie Pathologique and Tumorotheque, 149 rue de S\u00e8vres, 75015 Paris, France. francis.jaubert@nck.aphp.fr","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210086369","https://openalex.org/I4210097159","https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109199510","display_name":"Marc Le Lorc\u2019h","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. le Lorch","raw_affiliation_strings":["Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000438872","display_name":"Virginie Verkarre","orcid":"https://orcid.org/0000-0001-7720-0236","observed_orcids":["https://orcid.org/0000-0001-7720-0236"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210086369","display_name":"Institut Necker Enfants Malades","ror":"https://ror.org/000nhq538","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210086369","https://openalex.org/I4210096427"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"V. Verkarre","raw_affiliation_strings":["Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210086369","https://openalex.org/I4210097159","https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035390208","display_name":"C. Werl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210086369","display_name":"Institut Necker Enfants Malades","ror":"https://ror.org/000nhq538","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210086369","https://openalex.org/I4210096427"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Werl","raw_affiliation_strings":["Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210086369","https://openalex.org/I4210097159","https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074100712","display_name":"Laurence Hubert","orcid":"https://orcid.org/0000-0003-2598-159X","observed_orcids":["https://orcid.org/0000-0003-2598-159X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L. Hubert","raw_affiliation_strings":["Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009372608","display_name":"Claire Nihoul\u2010Feket\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Nihoul-F\u00e9k\u00e9t\u00e9","raw_affiliation_strings":["Surgery (C.N.-F., Y.A.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Surgery (C.N.-F., Y.A.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058358795","display_name":"Yves Y. Aigrain","orcid":"https://orcid.org/0000-0002-6712-2569","observed_orcids":["https://orcid.org/0000-0002-6712-2569"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Y. Aigrain","raw_affiliation_strings":["Surgery (C.N.-F., Y.A.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Surgery (C.N.-F., Y.A.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051616161","display_name":"Yves de Keyzer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Y. de Keyzer","raw_affiliation_strings":["Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085190954","display_name":"Serge Pierrick Romana","orcid":"https://orcid.org/0000-0003-3435-239X","observed_orcids":["https://orcid.org/0000-0003-3435-239X"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S. P. Romana","raw_affiliation_strings":["Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040184602","display_name":"Christine Bellann\u00e9\u2010Chantelot","orcid":"https://orcid.org/0000-0001-8415-6771","observed_orcids":["https://orcid.org/0000-0001-8415-6771"]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Bellanne-Chantelot","raw_affiliation_strings":["Department of Genetics (C.B.-C.), Groupe hospitalier Pitie\u0301-Salpe\u0301trie\u0300re, 75651 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics (C.B.-C.), Groupe hospitalier Pitie\u0301-Salpe\u0301trie\u0300re, 75651 Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081327741","display_name":"Pascale de Lonlay","orcid":"https://orcid.org/0000-0003-2971-726X","observed_orcids":["https://orcid.org/0000-0003-2971-726X","https://orcid.org/0000-0001-7107-1250"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P. de Lonlay","raw_affiliation_strings":["Inserm, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088600150","display_name":"Francis Jaubert","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210086369","display_name":"Institut Necker Enfants Malades","ror":"https://ror.org/000nhq538","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210086369","https://openalex.org/I4210096427"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"F. Jaubert","raw_affiliation_strings":["Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology (L.D., V.V., C.W., F.J.), Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale U-781, Ho\u0302pital Necker-Enfants Malades, 75015 Paris, France (Assistance Publique-Ho\u0302pitaux de Paris, Universite\u0301 Paris 5 Rene\u0301 Descartes)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210086369","https://openalex.org/I4210097159","https://openalex.org/I4387156284"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":3.3284,"has_fulltext":false,"cited_by_count":72,"citation_normalized_percentile":{"value":0.93147856,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"93","issue":"12","first_page":"4941","last_page":"4947"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.8086000084877014,"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":0.8086000084877014,"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/T10839","display_name":"Pancreatic function and diabetes","score":0.14499999582767487,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.01679999940097332,"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/neonatal-hyperinsulinism","display_name":"neonatal hyperinsulinism","score":0.8429999947547913},{"id":"https://openalex.org/keywords/chromosome-11p15","display_name":"chromosome 11p15","score":0.8510000109672546},{"id":"https://openalex.org/keywords/paternal-isodisomy","display_name":"paternal isodisomy","score":0.9929999709129333},{"id":"https://openalex.org/keywords/abcc8-gene","display_name":"ABCC8 gene","score":0.777999997138977},{"id":"https://openalex.org/keywords/kcnj11","display_name":"KCNJ11","score":0.9020000100135803},{"id":"https://openalex.org/keywords/microsatellite-markers","display_name":"microsatellite markers","score":0.6019999980926514}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7310822010040283},{"id":"https://openalex.org/C2777643638","wikidata":"https://www.wikidata.org/wiki/Q5160437","display_name":"Congenital hyperinsulinism","level":5,"score":0.6326414942741394},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.6167072653770447},{"id":"https://openalex.org/C2777368190","wikidata":"https://www.wikidata.org/wiki/Q477390","display_name":"Hyperinsulinism","level":4,"score":0.5497066974639893},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5369387269020081},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4998435974121094},{"id":"https://openalex.org/C2910535243","wikidata":"https://www.wikidata.org/wiki/Q5113922","display_name":"Chromosomal region","level":4,"score":0.48166191577911377},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4120178818702698},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3247143030166626},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.10415884852409363},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.04568418860435486},{"id":"https://openalex.org/C2777391703","wikidata":"https://www.wikidata.org/wiki/Q1053470","display_name":"Insulin resistance","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000099161","descriptor_name":"Kcnj11 Channel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002880","descriptor_name":"Chromosomes, Human, Pair 11","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002882","descriptor_name":"Chromosomes, Human, Pair 13","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005220","descriptor_name":"Fathers","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":"D006946","descriptor_name":"Hyperinsulinism","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D006946","descriptor_name":"Hyperinsulinism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","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":"D011003","descriptor_name":"Ploidies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011955","descriptor_name":"Receptors, Drug","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","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":true},{"descriptor_ui":"D024661","descriptor_name":"Potassium Channels, Inwardly Rectifying","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050417","descriptor_name":"Insulin-Secreting Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D064233","descriptor_name":"Sulfonylurea Receptors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1210/jc.2008-0673","doi":"https://doi.org/10.1210/jc.2008-0673","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2008-0673","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"pmid:18796520","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18796520","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":"The Journal of clinical endocrinology and metabolism","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W2006797961","https://openalex.org/W2010329740","https://openalex.org/W2012044781","https://openalex.org/W2014604973","https://openalex.org/W2022365795","https://openalex.org/W2032071761","https://openalex.org/W2051574088","https://openalex.org/W2055250293","https://openalex.org/W2057200496","https://openalex.org/W2064690867","https://openalex.org/W2075810641","https://openalex.org/W2082729885","https://openalex.org/W2086491850","https://openalex.org/W2111768688","https://openalex.org/W2122516453","https://openalex.org/W2122518659","https://openalex.org/W2124534418","https://openalex.org/W2125259412","https://openalex.org/W2126412386","https://openalex.org/W2128284959","https://openalex.org/W2135728728","https://openalex.org/W2136211437","https://openalex.org/W2143456507","https://openalex.org/W2153368969"],"related_works":["https://openalex.org/W2055250293","https://openalex.org/W1794246247","https://openalex.org/W2000135530","https://openalex.org/W2060348474","https://openalex.org/W4252425948","https://openalex.org/W2068901689","https://openalex.org/W1975387915","https://openalex.org/W1976748108","https://openalex.org/W2124534418","https://openalex.org/W2161288653"],"abstract_inverted_index":{"CONTEXT:":[0],"Focal":[1],"forms":[2,99,189,218],"of":[3,13,38,54,58,97,100,107,110,142,179,190,219],"congenital":[4,112,220],"hyperinsulinism":[5,113,191],"are":[6],"due":[7],"to":[8,43,123,127,213],"a":[9,55,162,177,206],"constitutional":[10],"heterozygous":[11,163],"mutation":[12,32,164,203],"paternal":[14,60,181,194],"origin":[15],"in":[16,27,46,71,85,94,104,148,165,186,209,216],"the":[17,23,28,36,39,47,51,59,105,143,156,166,172,180,187,198,210],"ABCC8":[18,131,157,167,202],"gene,":[19,25],"more":[20],"often":[21],"than":[22],"KCNJ11":[24],"located":[26,84],"11p15.1":[29,42,122],"region.":[30,62],"This":[31],"is":[33,176],"associated":[34],"with":[35,79,138,152],"loss":[37],"maternally":[40],"inherited":[41,170],"11p15.5":[44,128],"region":[45,87],"lesion.":[48,192],"We":[49],"investigated":[50],"possible":[52],"occurrence":[53],"compensatory":[56],"duplication":[57,178],"11p15.1-11p15.5":[61],"MATERIALS":[63],"AND":[64],"METHODS:":[65],"A":[66],"combined":[67],"immunohistochemistry":[68],"and":[69,89,119,125,132,158,204],"fluorescent":[70],"situ":[72],"hybridization":[73],"study":[74],"on":[75,183],"beta-cell":[76],"interphase":[77],"nuclei":[78],"probes":[80],"covering":[81],"two":[82,139],"genes":[83],"this":[86],"(ABCC8":[88],"CDKN1C":[90,133,159],"genes)":[91],"was":[92,146,169],"performed":[93],"four":[95,108],"cases":[96,109],"focal":[98,111,150,188],"hyperinsulinism.":[101,221],"RESULTS:":[102],"beta-Cells":[103],"lesions":[106,151],"were":[114,136],"diploid":[115],"for":[116,201],"chromosomes":[117],"11":[118,185],"13.":[120],"The":[121,193],"11p15.2":[124],"11p15.4":[126],"regions":[129],"containing":[130],"genes,":[134,160],"respectively,":[135],"present":[137],"copies.":[140],"Loss":[141],"maternal":[144],"allele":[145,182],"confirmed":[147],"these":[149],"microsatellite":[153],"markers":[154],"flanking":[155],"whereas":[161],"gene":[168],"from":[171],"father.":[173],"CONCLUSIONS:":[174],"There":[175],"chromosome":[184],"isodisomy":[195],"observed":[196,215],"rendered":[197],"beta-cells":[199],"homozygous":[200],"harbored":[205],"K-channel":[207],"defect":[208],"lesion":[211],"similar":[212],"that":[214],"diffuse":[217]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
