{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:41:34Z","timestamp":1791092494622,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2001,5,1]],"date-time":"2001-05-01T00:00:00Z","timestamp":988675200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4462,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2001,5]]},"DOI":"10.1086\/320117","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:26:20Z","timestamp":1027707980000},"page":"1283-1289","source":"Crossref","is-referenced-by-count":179,"title":["Paternal Uniparental Isodisomy of Chromosome 20q\u2014and the Resulting Changes in GNAS1 Methylation\u2014as a Plausible Cause of Pseudohypoparathyroidism"],"prefix":"10.1016","volume":"68","author":[{"given":"Murat","family":"Bastepe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H.","family":"Lane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/320117_bib2","first-page":"569","article-title":"Pseudohypoparathyroidism: new insights into an old disease","volume":"Vol 29","author":"Bastepe","year":"2000"},{"key":"10.1086\/320117_bib3","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1006\/mcpr.1999.0271","article-title":"Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13","volume":"14","author":"Bastepe","year":"1999","journal-title":"Mol Cell Probes"},{"key":"10.1086\/320117_bib4","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/sj.ejhg.5200287","article-title":"Maternal UPD 20 in a hyperactive child with severe growth retardation","volume":"7","author":"Chudoba","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/320117_bib5","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.30.2.101","article-title":"Imprinting in Albright's hereditary osteodystrophy","volume":"30","author":"Davies","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/320117_bib6","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/0006-8993(96)00167-9","article-title":"Cloning of human neuronatin gene and its localization to chromosome-20q11.2-12: the deduced protein is a novel `proteolipid'","volume":"723","author":"Dou","year":"1996","journal-title":"Brain Res"},{"key":"10.1086\/320117_bib7","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1359\/jbmr.1999.14.6.1016","article-title":"Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib","volume":"14","author":"Farfel","year":"1999","journal-title":"J Bone Miner Res"},{"key":"10.1086\/320117_bib8","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/hmg\/9.5.835","article-title":"An imprinted antisense transcript at the human GNAS1 locus","volume":"9","author":"Hayward","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/320117_bib9","doi-asserted-by":"crossref","first-page":"10038","DOI":"10.1073\/pnas.95.17.10038","article-title":"The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins","volume":"95","author":"Hayward","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/320117_bib10","doi-asserted-by":"crossref","first-page":"15475","DOI":"10.1073\/pnas.95.26.15475","article-title":"Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins","volume":"95","author":"Hayward","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/320117_bib11","doi-asserted-by":"crossref","first-page":"11798","DOI":"10.1073\/pnas.95.20.11798","article-title":"The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3","volume":"95","author":"J\u00fcppner","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/320117_bib12","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1006\/dbio.1997.8681","article-title":"Genetic and functional analysis of neuronatin in mice with maternal or paternal duplication of distal chr 2","volume":"190","author":"Kikyo","year":"1997","journal-title":"Dev Biol"},{"key":"10.1086\/320117_bib13","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6","article-title":"Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15","volume":"82","author":"Kotzot","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/320117_bib14","series-title":"Principles of bone biology","first-page":"853","article-title":"Pseudohypoparathyroidism","author":"Levine","year":"1996"},{"key":"10.1086\/320117_bib15","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1172\/JCI10431","article-title":"A GNAS1 imprinting defect in pseudohypoparathyroidism type IB","volume":"106","author":"Liu","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1086\/320117_bib16","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<261::AID-AJMG2>3.0.CO;2-Q","article-title":"Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gs\u03b1 gene mutation","volume":"77","author":"Nakamoto","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1086\/320117_bib17","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1172\/JCI9460","article-title":"The impact of genomic imprinting for neurobehavioral and developmental disorders","volume":"105","author":"Nicholls","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1086\/320117_bib18","doi-asserted-by":"crossref","first-page":"3830","DOI":"10.1073\/pnas.96.7.3830","article-title":"A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2","volume":"96","author":"Peters","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/320117_bib19","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K","article-title":"Mechanisms leading to uniparental disomy and their clinical consequences","volume":"22","author":"Robinson","year":"2000","journal-title":"Bioessays"},{"key":"10.1086\/320117_bib20","first-page":"A118","article-title":"Paternal uniparental isodisomy for human chromosome 20 and absence of external ears","volume":"55","author":"Spinner","year":"1994","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/320117_bib21","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/ng1095-164","article-title":"A human parthenogenetic chimaera","volume":"11","author":"Strain","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/320117_bib22","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S0092-8674(00)80559-0","article-title":"The sins of the fathers and mothers: genomic imprinting in mammalian development","volume":"96","author":"Tilghman","year":"1999","journal-title":"Cell"},{"key":"10.1086\/320117_bib23","series-title":"G proteins, receptors, and disease","first-page":"23","article-title":"Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency","author":"Weinstein","year":"1998"},{"key":"10.1086\/320117_bib24","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1136\/jmg.31.11.835","article-title":"Parental origin of Gsa gene mutations in Albright's hereditary osteodystrophy","volume":"31","author":"Wilson","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/320117_bib25","doi-asserted-by":"crossref","first-page":"3342","DOI":"10.1073\/pnas.97.7.3342","article-title":"An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus","volume":"97","author":"Wroe","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/320117_bib26","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1210\/jcem-66-3-618","article-title":"Effects of endogenous and exogenous parathyroid hormone on tubular reabsorption of calcium in pseudohypoparathyroidism","volume":"66","author":"Yamamoto","year":"1988","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1086\/320117_bib27","doi-asserted-by":"crossref","first-page":"8715","DOI":"10.1073\/pnas.95.15.8715","article-title":"Variable and tissue-specific hormone resistance in heterotrimeric Gs protein \u03b1-subunit (Gs\u03b1) knockout mice is due to tissue-specific imprinting of the Gs\u03b1 gene","volume":"95","author":"Yu","year":"1998","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707612373?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707612373?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:51:57Z","timestamp":1555005117000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707612373"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001,5]]}},"alternative-id":["S0002929707612373"],"URL":"https:\/\/doi.org\/10.1086\/320117","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2001,5]]}}}