{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:34:14Z","timestamp":1792762454386,"version":"4.5.0"},"reference-count":20,"publisher":"The Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,6,1]]},"DOI":"10.1210\/jc.2006-2287","type":"journal-article","created":{"date-parts":[[2007,4,3]],"date-time":"2007-04-03T23:56:55Z","timestamp":1175644615000},"page":"2370-2373","source":"Crossref","is-referenced-by-count":144,"title":["Epigenetic Defects of<i>GNAS<\/i>in Patients with Pseudohypoparathyroidism and Mild Features of Albright\u2019s Hereditary Osteodystrophy"],"prefix":"10.1210","volume":"92","author":[{"given":"Guiomar Pe\u0301rez","family":"de Nanclares","sequence":"first","affiliation":[{"name":"Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Ferna\u0301ndez-Rebollo","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izortze","family":"Santin","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Garci\u0301a-Cuartero","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit (B.G.-C.), Severo Ochoa Hospital, Legane\u0301s, 28911 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Gaztambide","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain"},{"name":"Department of Medicine, Nursing, and Pediatrics (S.G., J.R.B., L.C.), University of Basque Country, 48940 Leioa, Bizkaia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edelmiro","family":"Mene\u0301ndez","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Service (E.M.), Hospital de Navarra, 31080 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jose","family":"Morales","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Service (M.J.M.), Hospital do Meixoeiro, 36200 Viga, Pontevedra, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Pombo","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Growth, and Adolescence Unit (M.P.), Clinical University of Santiago de Compostela, 15706 Santiago de Compostela, A Corun\u0303a, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose\u0301 Ramo\u0301n","family":"Bilbao","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain"},{"name":"Department of Medicine, Nursing, and Pediatrics (S.G., J.R.B., L.C.), University of Basque Country, 48940 Leioa, Bizkaia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Barros","sequence":"additional","affiliation":[{"name":"Fundacio\u0301n Pu\u0301blica Galega de Medicina Xeno\u0301mica (F.B.), 15706 Santiago de Compostela, A Corun\u0303a, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Zazo","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiebke","family":"Ahrens","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine (W.A., O.H.), University of Lu\u0308beck, 23538 Lu\u0308beck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Ju\u0308ppner","sequence":"additional","affiliation":[{"name":"Endocrine Unit (H.J., M.B.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine (W.A., O.H.), University of Lu\u0308beck, 23538 Lu\u0308beck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Castan\u0303o","sequence":"additional","affiliation":[{"name":"Endocrinology and Diabetes Research Unit (G.P.d.N., E.F.-R., I.S., S.G., J.R.B., N.Z., L.C.), Hospital de Cruces, Barakaldo E48903, Basque Country, Spain"},{"name":"Department of Medicine, Nursing, and Pediatrics (S.G., J.R.B., L.C.), University of Basque Country, 48940 Leioa, Bizkaia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Bastepe","sequence":"additional","affiliation":[{"name":"Endocrine Unit (H.J., M.B.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041114182802900_R1","first-page":"675","article-title":"Endocrine manifestations of stimulatory G protein \u03b1-subunit mutations and the role of genomic imprinting.","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocr Rev"},{"key":"key\n\t\t\t\t2019041114182802900_R2","first-page":"1137","article-title":"Pseudohypoparathyroidism","author":"Levine","year":"2002","journal-title":"In: Principles of bone biology. Bilezikian JP, Raisz LG, Rodan GA, eds. New York: Academic Press;"},{"key":"key\n\t\t\t\t2019041114182802900_R3","doi-asserted-by":"crossref","first-page":"4336","DOI":"10.1210\/jc.2003-030393","article-title":"The stimulatory G protein \u03b1-subunit Gs\u03b1 is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.","volume":"88","author":"Liu","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114182802900_R4","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":"key\n\t\t\t\t2019041114182802900_R5","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1093\/hmg\/10.12.1231","article-title":"Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A\/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.","volume":"10","author":"Bastepe","year":"2001","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019041114182802900_R6","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1086\/320117","volume":"68","author":"Bastepe","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041114182802900_R7","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1172\/JCI19159","article-title":"Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.","volume":"112","author":"Bastepe","year":"2003","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t2019041114182802900_R8","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1086\/429932","article-title":"A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.","volume":"76","author":"Linglart","year":"2005","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041114182802900_R9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1487","article-title":"Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.","volume":"37","author":"Bastepe","year":"2005","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041114182802900_R10","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1210\/jcem-19-10-1312","article-title":"Endocrine significance of short metacarpals.","volume":"19","author":"Archibald","year":"1959","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114182802900_R11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1148\/104.1.1","article-title":"Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.","volume":"104","author":"Poznanski","year":"1972","journal-title":"Radiology"},{"key":"key\n\t\t\t\t2019041114182802900_R12","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":"Ju\u0308ppner","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041114182802900_R13","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.2337\/diabetes.49.8.1359","article-title":"Transient neonatal diabetes. Widening the understanding of the etiopathogenesis of diabetes.","volume":"49","author":"Temple","year":"2000","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041114182802900_R14","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/0006-291X(80)90563-X","article-title":"Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism.","volume":"94","author":"Levine","year":"1980","journal-title":"Biochem Biophys Res Commun"},{"key":"key\n\t\t\t\t2019041114182802900_R15","first-page":"4630","article-title":"Analysis of the GNAS1 gene in Albright\u2019s hereditary osteodystrophy.","volume":"86","author":"Ahrens","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114182802900_R16","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0301-472X(02)00806-8","article-title":"Gene quantification using real time quantitative PCR: an emerging technology hits the mainstream.","volume":"30","author":"Ginzinger","year":"2002","journal-title":"Exp Hematol"},{"key":"key\n\t\t\t\t2019041114182802900_R17","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1210\/jc.2006-1497","article-title":"Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of G\u03b1s in the development of human obesity.","volume":"92","author":"Long","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114182802900_R18","doi-asserted-by":"crossref","first-page":"6316","DOI":"10.1210\/jc.2004-0558","article-title":"Biallelic expression of the Gs\u03b1 gene in human bone and adipose tissue.","volume":"89","author":"Mantovani","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114182802900_R19","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1210\/jcem.87.1.8133","article-title":"GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.","volume":"87","author":"Linglart","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041114182802900_R20","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1203\/01.PDR.0000059752.07086.A2","article-title":"Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.","volume":"53","author":"De Sanctis","year":"2003","journal-title":"Pediatr Res"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/92\/6\/2370\/10780655\/jcem2370.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,26]],"date-time":"2019-04-26T22:57:58Z","timestamp":1556319478000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/92\/6\/2370\/2598178"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,1]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,6,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2006-2287","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,1]]}}}