{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:44:29Z","timestamp":1789447469101,"version":"build-2803163510"},"reference-count":36,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":914,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1002\/humu.22265","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T05:43:39Z","timestamp":1356155019000},"page":"411-416","source":"Crossref","is-referenced-by-count":69,"title":["Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of<i>GNAS<\/i>Inactivating Mutations"],"prefix":"10.1155","volume":"34","author":[{"given":"Francesca Marta","family":"Elli","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences and Community Health; University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico; Milan; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"deSanctis","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatrics; University of Turin, Regina Margherita Children's Hospital; Turin; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Ceoloni","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatrics; University of Turin, Regina Margherita Children's Hospital; Turin; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"Barbieri","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health; University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico; Milan; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Bordogna","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health; University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico; Milan; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Beck-Peccoz","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health; University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico; Milan; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Spada","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health; University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico; Milan; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Mantovani","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health; University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico; Milan; Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2013,3,5]]},"reference":[{"key":"10.1002\/humu.22265-BIB0001|humu22265-cit-0001","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1046\/j.1365-2265.1997.1100922.x-i1","article-title":"GNAS mutational analysis in pseudohypoparathyroidism","volume":"49","author":"Ahmed","year":"1998","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1002\/humu.22265-BIB0002|humu22265-cit-0002","doi-asserted-by":"crossref","first-page":"4630","DOI":"10.1210\/jc.86.10.4630","article-title":"Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy","volume":"86","author":"Ahrens","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0003|humu22265-cit-0003","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/1098-1004(200009)16:3<183::AID-HUMU1>3.0.CO;2-L","article-title":"Activating and inactivating mutations in the human GNAS gene","volume":"16","author":"Aldred","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22265-BIB0004|humu22265-cit-0004","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/S1695-4033(01)77602-3","article-title":"Albright hereditary osteodystrophy: identification of a novel mutation in a family","volume":"54","author":"Bastida Eizaguirre","year":"2001","journal-title":"An Esp Pediatr"},{"key":"10.1002\/humu.22265-BIB0005|humu22265-cit-0005","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1002\/humu.21557","article-title":"On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease","volume":"32","author":"Cooper","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22265-BIB0008|humu22265-cit-0008","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22265-BIB0006|humu22265-cit-0006","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":"deSanctis","year":"2003","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.22265-BIB0007|humu22265-cit-0007","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1210\/jc.2003-030850","article-title":"Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients","volume":"89","author":"deSanctis","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0009|humu22265-cit-0009","doi-asserted-by":"crossref","first-page":"19653","DOI":"10.1074\/jbc.271.33.19653","article-title":"Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation","volume":"271","author":"Farfel","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22265-BIB0010|humu22265-cit-0010","first-page":"45","article-title":"Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1","volume":"76","author":"Garavelli","year":"2005","journal-title":"Acta Biomed"},{"key":"10.1002\/humu.22265-BIB0011|humu22265-cit-0011","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0006-291X(02)00833-1","article-title":"Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a","volume":"296","author":"Germain-Lee","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.22265-BIB0012|humu22265-cit-0012","doi-asserted-by":"crossref","first-page":"4059","DOI":"10.1210\/jc.2003-030028","article-title":"Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance","volume":"88","author":"Germain-Lee","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0013|humu22265-cit-0013","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1007\/s100380170062","article-title":"Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia","volume":"46","author":"Ishikawa","year":"2001","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22265-BIB0014|humu22265-cit-0014","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1001\/archinte.1979.03630390056022","article-title":"Pseudohypoparathyroidism: report on a family with four affected sisters","volume":"139","author":"Kinard","year":"1979","journal-title":"Arch Intern Med"},{"key":"10.1002\/humu.22265-BIB0015|humu22265-cit-0015","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1515\/JPEM.2002.15.3.259","article-title":"Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a","volume":"15","author":"Lim","year":"2002","journal-title":"J Pediatr Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0016|humu22265-cit-0016","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1210\/jc.87.1.189","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":"10.1002\/humu.22265-BIB0020|humu22265-cit-0020","doi-asserted-by":"crossref","first-page":"3020","DOI":"10.1210\/jc.2011-1048","article-title":"Clinical review: pseudohypoparathyroidism: diagnosis and treatment","volume":"96","author":"Mantovani","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0018|humu22265-cit-0018","doi-asserted-by":"crossref","first-page":"4736","DOI":"10.1210\/jc.2002-020183","article-title":"The Gs\u03b1 gene: predominant maternal origin of transcription in human thyroid gland and gonads","volume":"87","author":"Mantovani","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0019|humu22265-cit-0019","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1210\/jc.2009-0176","article-title":"Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients","volume":"95","author":"Mantovani","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0017|humu22265-cit-0017","doi-asserted-by":"crossref","first-page":"4243","DOI":"10.1210\/jc.85.11.4243","article-title":"Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations","volume":"85","author":"Mantovani","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0021|humu22265-cit-0021","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1210\/jc.76.6.1560","article-title":"Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy","volume":"76","author":"Miric","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0022|humu22265-cit-0022","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1056\/NEJM199005173222002","article-title":"Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy","volume":"322","author":"Patten","year":"1990","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22265-BIB0023|humu22265-cit-0023","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1530\/eje.0.1480463","article-title":"A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy","volume":"148","author":"Pohlenz","year":"2003","journal-title":"Eur J Endocrinol"},{"key":"10.1002\/humu.22265-BIB0024|humu22265-cit-0024","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1086\/374566","article-title":"Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA","volume":"72","author":"Rickard","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22265-BIB0025|humu22265-cit-0025","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1530\/eje.1.01879","article-title":"Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene","volume":"152","author":"Riepe","year":"2005","journal-title":"Eur J Endocrinol"},{"key":"10.1002\/humu.22265-BIB0026|humu22265-cit-0026","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/BF00218836","article-title":"Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene","volume":"97","author":"Shapira","year":"1996","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22265-BIB0027|humu22265-cit-0027","doi-asserted-by":"crossref","first-page":"1764","DOI":"10.1210\/jc.2006-2122","article-title":"A disruptive mutation in exon 3 of the GNAS gene with Albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency","volume":"92","author":"Thiele","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.22265-BIB0028|humu22265-cit-0028","doi-asserted-by":"crossref","first-page":"1718","DOI":"10.1210\/me.11.11.1718","article-title":"A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism","volume":"11","author":"Warner","year":"1997","journal-title":"Mol Endocrinol"},{"issue":"37","key":"10.1002\/humu.22265-BIB0029|humu22265-cit-0029","doi-asserted-by":"crossref","first-page":"23976","DOI":"10.1074\/jbc.273.37.23976","article-title":"A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation","volume":"273","author":"Warner","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22265-BIB0031|humu22265-cit-0031","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/0888-7543(92)90056-X","article-title":"A heterozygous 4-bp deletion mutation in the Gs\u03b1 gene (GNAS) in a patient with Albright's hereditary osteodystrophy","volume":"13","author":"Weinstein","year":"1992","journal-title":"Genomics"},{"key":"10.1002\/humu.22265-BIB0030|humu22265-cit-0030","doi-asserted-by":"crossref","first-page":"8287","DOI":"10.1073\/pnas.87.21.8287","article-title":"Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis","volume":"87","author":"Weinstein","year":"1990","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.22265-BIB0032|humu22265-cit-0032","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1152\/physrev.00003.2005","article-title":"Mammalian G proteins and their cell type specific functions","volume":"85","author":"Wettschureck","year":"2005","journal-title":"Physiol Rev"},{"key":"10.1002\/humu.22265-BIB0033|humu22265-cit-0033","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1136\/jmg.31.11.835","article-title":"Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy","volume":"31","author":"Wilson","year":"1994","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22265-BIB0034|humu22265-cit-0034","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1007\/BF03349874","article-title":"A 4-bp deletion mutation of Gs\u03b1 gene in a Japanese patient with pseudoparathyroidism","volume":"19","author":"Yokoyama","year":"1996","journal-title":"J Endocrinol Invest"},{"key":"10.1002\/humu.22265-BIB0036|humu22265-cit-0036","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1093\/hmg\/4.10.2001","article-title":"A deletion hotspot in exon 7 of the Gs\u03b1 gene (GNAS) in patients with Albright hereditary osteodystrophy","volume":"4","author":"Yu","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22265-BIB0035|humu22265-cit-0035","doi-asserted-by":"crossref","first-page":"3254","DOI":"10.1210\/jc.84.9.3254","article-title":"Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy","volume":"84","author":"Yu","year":"1999","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22265","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22265\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:14Z","timestamp":1672332854000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22265"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22265","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]}}}