{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:41:50Z","timestamp":1791092510674,"version":"4.1.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished \u03b1-subunit of the stimulatory G protein (G<jats:sub>s<\/jats:sub>\u03b1) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in G<jats:sub>s<\/jats:sub>\u03b1-coding exons of<jats:italic>GNAS<\/jats:italic>, PHP-Ib is caused by imprinting defects of<jats:italic>GNAS<\/jats:italic>. To date, just one patient with PHP and complete paternal uniparental disomy (UPD) has been described.<\/jats:p><jats:p>We sought to identify the underlining molecular defect in twenty patients with parathyroid hormone resistance, hypocalcemia and hyperphosphatemia, and abnormal methylation pattern at GNAS locus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Microsatellite typing and comparative genome hybridization were performed for proband and parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We describe four patients with partial paternal UPD of chromosome 20 involving pat20qUPD in one case, from 20q13.13-qter in two cases, and pat20p heterodisomy plus interstitial 20q isodisomy in one patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These observations demonstrate that mitotic recombination of chromosome 20 can also give rise to UPD and PHP, a situation similar to other imprinting disorders, such as Beckwith\u2013Wiedemann syndrome or neonatal diabetes.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-10-0435","type":"journal-article","created":{"date-parts":[[2010,9,14]],"date-time":"2010-09-14T04:49:41Z","timestamp":1284439781000},"page":"953-962","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":64,"title":["New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism"],"prefix":"10.1093","volume":"163","author":[{"given":"Eduardo","family":"Fern\u00e1ndez-Rebollo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Lecumberri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Intza","family":"Garin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Arroyo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Bernal-Chico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Go\u00f1i","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Ordu\u00f1a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"_","family":"_","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guiomar","family":"P\u00e9rez de Nanclares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"2","key":"1_8265947","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1002\/ajmg.1320060207","volume":"6","author":"Engel","year":"1980","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"3","key":"2_10724916","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6","volume":"82","author":"Kotzot","year":"1999","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"5","key":"3_10304298","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K","volume":"22","author":"Robinson","year":"2000","journal-title":"BioEssays : news and reviews in molecular, cellular and developmental biology","ISSN":"https:\/\/id.crossref.org\/issn\/0265-9247","issn-type":"print"},{"issue":"11","key":"4_22887597","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1038\/sj.ejhg.5201619","volume":"14","author":"Engel","year":"2006","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"issue":"6","key":"5_14432608","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1002\/ajmg.1320460613","volume":"46","author":"Engel","year":"1993","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"suppl_1","key":"6_16132252","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/4.suppl_1.1757","volume":"4","author":"Ledbetter","year":"1995","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"4","key":"7_6171266","doi-asserted-by":"publisher","first-page":"1216","DOI":"10.1086\/302050","volume":"63","author":"Field","year":"1998","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"2","key":"8_5971750","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1097\/00005792-199803000-00005","volume":"77","author":"Cassidy","year":"1998","journal-title":"Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0025-7974","issn-type":"print"},{"issue":"1","key":"9_11137304","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0003-3995(01)01035-8","volume":"44","author":"Eggermann","year":"2001","journal-title":"Annales de Genetique","ISSN":"https:\/\/id.crossref.org\/issn\/0003-3995","issn-type":"print"},{"issue":"3","key":"10_18304492","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.anngen.2004.03.006","volume":"47","author":"Kotzot","year":"2004","journal-title":"Annales de Genetique","ISSN":"https:\/\/id.crossref.org\/issn\/0003-3995","issn-type":"print"},{"issue":"5","key":"11_10441908","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1002\/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9","volume":"93","author":"Sutton","year":"2000","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"12_38536787","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.beem.2008.01.012","volume":"22","year":"2008","journal-title":"BEST PRACTICE AND RESEARCH CLINICAL ENDOCRINOLOGY AND METABOLISM"},{"issue":"1","key":"13_14628360","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1159\/000472384","volume":"1","author":"Henry","year":"1993","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"issue":"9","key":"14_31238932","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1136\/jmg.2008.058016","volume":"45","year":"2008","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"8","key":"15_11261794","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1136\/jmg.38.8.497","volume":"38","author":"Kotzot","year":"2001","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"2","key":"16_4783190","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1001\/archinte.1979.03630390056022","volume":"139","author":"Kinard","year":"1979","journal-title":"Archives of Internal Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9926","issn-type":"print"},{"key":"17_23951557","first-page":"922","volume":"30","year":"1942","journal-title":"Endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0013-7227","issn-type":"print"},{"issue":"20","key":"19_5617664","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1056\/NEJM199005173222002","volume":"322","author":"Patten","year":"1990","journal-title":"New England Journal of Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"issue":"11","key":"20_15764327","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1136\/jmg.31.11.835","volume":"31","author":"Wilson","year":"1994","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"5","key":"21_11347368","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1210\/er.22.5.675","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocrine Reviews","ISSN":"https:\/\/id.crossref.org\/issn\/0163-769X","issn-type":"print"},{"issue":"15","key":"22_6086480","doi-asserted-by":"publisher","first-page":"8715","DOI":"10.1073\/pnas.95.15.8715","volume":"95","author":"Yu","year":"1998","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"23_30733860","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/978-0-387-77576-0_3","volume":"626","author":"Bastepe","year":"2008","journal-title":"Advances in experimental medicine and biology","ISSN":"https:\/\/id.crossref.org\/issn\/0065-2598","issn-type":"print"},{"issue":"9","key":"25_10541764","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1172\/JCI10431","volume":"106","author":"Liu","year":"2000","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"12","key":"26_11193814","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1093\/hmg\/10.12.1231","volume":"10","author":"Bastepe","year":"2001","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"8","key":"27_17859913","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1172\/JCI200319159","volume":"112","author":"Bastepe","year":"2003","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"5","key":"28_18775052","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1086\/429932","volume":"76","author":"Linglart","year":"2005","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"1","key":"29_18594039","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng1560","volume":"37","author":"Bastepe","year":"2005","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"5","key":"30_11116510","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1086\/320117","volume":"68","author":"Bastepe","year":"2001","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"4","key":"31_35829968","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1136\/jmg.2009.071001","volume":"47","year":"2010","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"6","key":"32_28262026","doi-asserted-by":"publisher","first-page":"2370","DOI":"10.1210\/jc.2006-2287","volume":"92","year":"2007","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"1","key":"33_22994539","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/hmg\/ddl436","volume":"16","year":"2007","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"2","key":"34_4855329","first-page":"217","volume":"42","author":"Spence","year":"1988","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"6328","key":"35_9485431","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1038\/351665a0","volume":"351","author":"Henry","year":"1991","journal-title":"Nature; Physical Science (London)","ISSN":"https:\/\/id.crossref.org\/issn\/1476-4687","issn-type":"print"},{"issue":"4","key":"36_10063937","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1002\/ana.410320406","volume":"32","author":"Nicholls","year":"1992","journal-title":"Annals of neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0364-5134","issn-type":"print"},{"issue":"4","key":"37_15964471","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1093\/hmg\/4.4.583","volume":"4","author":"Kotzot","year":"1995","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"6","key":"38_9658887","first-page":"1219","volume":"49","author":"Robinson","year":"1991","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"6","key":"39_6295893","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1111\/j.1399-0004.1998.tb03774.x","volume":"54","author":"Gardner","year":"1998","journal-title":"Clinical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"issue":"1","key":"40_16763566","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1002\/(SICI)1096-8628(19970502)70:1<74::AID-AJMG14>3.0.CO;2-U","volume":"70","author":"Cotter","year":"1997","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"5","key":"41_10919349","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1038\/sj.ejhg.5200287","volume":"7","author":"Chudoba","year":"1999","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"issue":"2","key":"42_11048209","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1136\/jmg.38.2.86","volume":"38","author":"Eggermann","year":"2001","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"10","key":"43_11443309","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1002\/pd.158","volume":"21","author":"Salafsky","year":"2001","journal-title":"Prenatal diagnosis","ISSN":"https:\/\/id.crossref.org\/issn\/0197-3851","issn-type":"print"},{"issue":"11","key":"44_17304569","doi-asserted-by":"publisher","first-page":"694","DOI":"10.1038\/sj.ejhg.5200867","volume":"10","author":"Velissariou","year":"2002","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"key":"45_34862478","first-page":"274","volume":"124","year":"2004","journal-title":"American journal of medical genetics. Part A","ISSN":"https:\/\/id.crossref.org\/issn\/1552-4825","issn-type":"print"},{"issue":"2","key":"46_17306139","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1002\/ajmg.10751","volume":"113","author":"Aldred","year":"2002","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"1","key":"47_9450603","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/pd.1970110103","volume":"11","author":"Hsu","year":"1991","journal-title":"Prenatal diagnosis","ISSN":"https:\/\/id.crossref.org\/issn\/0197-3851","issn-type":"print"},{"issue":"2","key":"48_6490620","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1002\/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K","volume":"20","author":"Wallerstein","year":"2000","journal-title":"Prenatal diagnosis","ISSN":"https:\/\/id.crossref.org\/issn\/0197-3851","issn-type":"print"},{"issue":"2","key":"49_32647909","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1210\/jc.2008-1805","volume":"94","year":"2009","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"1-2","key":"50_11309190","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1006\/geno.2001.6612","volume":"77","author":"Evans","year":"2001","journal-title":"Genomics","ISSN":"https:\/\/id.crossref.org\/issn\/0888-7543","issn-type":"print"},{"key":"51_38536788","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1038\/oby.2009.361","volume":"18","year":"2010","journal-title":"OBESITY"},{"issue":"8","key":"52_18277693","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1038\/ng1397","volume":"36","author":"Plagge","year":"2004","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"11","key":"54_17325465","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1001\/archopht.120.11.1566","volume":"120","author":"Rivolta","year":"2002","journal-title":"Archives of Ophthalmology","ISSN":"https:\/\/id.crossref.org\/issn\/0003-9950","issn-type":"print"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/163\/6\/953.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/163\/6\/953.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:25:19Z","timestamp":1676391919000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/163\/6\/953\/6676625"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12]]},"references-count":51,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1530\/eje-10-0435","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12]]}}}