{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:53:33Z","timestamp":1789847613595,"version":"4.0.1"},"reference-count":27,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2016,11,24]],"date-time":"2016-11-24T00:00:00Z","timestamp":1479945600000},"content-version":"vor","delay-in-days":1333,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/us\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,4,1]]},"DOI":"10.1210\/jc.2012-3467","type":"journal-article","created":{"date-parts":[[2013,3,23]],"date-time":"2013-03-23T04:19:21Z","timestamp":1364012361000},"page":"E737-E743","source":"Crossref","is-referenced-by-count":42,"title":["Structural Pituitary Abnormalities Associated With CHARGE Syndrome"],"prefix":"10.1210","volume":"98","author":[{"given":"Louise C.","family":"Gregory","sequence":"first","affiliation":[{"name":"Developmental Endocrinology Research Group (L.C.G., T.K., M.J.M., M.T.D.), Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelien F.","family":"Gevers","sequence":"additional","affiliation":[{"name":"Departments of Endocrinology (E.F.G.), London WC1N 3JH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (J.B.), Kent and Canterbury Hospital, Canterbury CT1 3NG, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Kasia","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Research Group (L.C.G., T.K., M.J.M., M.T.D.), Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kling","family":"Chong","sequence":"additional","affiliation":[{"name":"Radiology (K.C.), Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dragana J.","family":"Josifova","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department (D.J.J.), Guy's Hospital, London SE1 9RT, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Caimari","sequence":"additional","affiliation":[{"name":"Unidad de Endocrinologia Pediatrica (M.C.), Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Bilan","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics (F.B.), Centre Hospitalier Universitaire de Poitiers, BP 577-86021 Poitiers Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"McCabe","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Research Group (L.C.G., T.K., M.J.M., M.T.D.), Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehul T.","family":"Dattani","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Research Group (L.C.G., T.K., M.J.M., M.T.D.), Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113534326200_B1","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ajmg.a.33323","article-title":"Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome","volume":"152A","author":"Zentner","year":"2010","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t2019041113534326200_B2","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajmg.a.30560","article-title":"An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study","volume":"133A","author":"Issekutz","year":"2005","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t2019041113534326200_B3","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2005.036061","article-title":"CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene","volume":"43","author":"Jongmans","year":"2006","journal-title":"J Med Genet"},{"issue":"7","key":"key\n\t\t\t\t2019041113534326200_B4","doi-asserted-by":"crossref","first-page":"e94","DOI":"10.1136\/jmg.2003.017640","article-title":"SEMA3E mutation in a patient with CHARGE syndrome","volume":"41","author":"Lalani","year":"2004","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113534326200_B5","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1101\/gr.086983.108","article-title":"Genomic distribution of CHD7 on chromatin tracks of H3K4 methylation patterns","volume":"19","author":"Schnetz","year":"2009","journal-title":"Genome Res"},{"issue":"1\u20132","key":"key\n\t\t\t\t2019041113534326200_B6","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.mce.2011.07.013","article-title":"The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotrophic hypogonadism and Kallmann syndrome","volume":"346","author":"Kim","year":"2011","journal-title":"Mol Cell Endocrinol"},{"issue":"1","key":"key\n\t\t\t\t2019041113534326200_B7","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1399-0004.2010.01446.x","article-title":"Chromodomain proteins in development: lessons from CHARGE syndrome","volume":"78","author":"Layman","year":"2010","journal-title":"Clin Genet"},{"issue":"2","key":"key\n\t\t\t\t2019041113534326200_B8","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s00335-006-0107-6","article-title":"Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues","volume":"18","author":"Hurd","year":"2007","journal-title":"Mamm Genome"},{"issue":"1","key":"key\n\t\t\t\t2019041113534326200_B9","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ajmg.a.31921","article-title":"Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability","volume":"146A","author":"Jongmans","year":"2008","journal-title":"Am J Med Genet A"},{"issue":"3","key":"key\n\t\t\t\t2019041113534326200_B10","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.2005.036160","article-title":"Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development","volume":"43","author":"Sanlavile","year":"2006","journal-title":"J Med Gen"},{"issue":"16","key":"key\n\t\t\t\t2019041113534326200_B11","doi-asserted-by":"crossref","first-page":"3138","DOI":"10.1093\/hmg\/ddr216","article-title":"Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome","volume":"20","author":"Layman","year":"2011","journal-title":"Hum Mol Genet"},{"issue":"4","key":"key\n\t\t\t\t2019041113534326200_B12","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.ajhg.2008.09.005","article-title":"Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome","volume":"83","author":"Kim","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"7","key":"key\n\t\t\t\t2019041113534326200_B13","doi-asserted-by":"crossref","first-page":"e1001023","DOI":"10.1371\/journal.pgen.1001023","article-title":"CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression","volume":"6","author":"Schnetz","year":"2010","journal-title":"PLoS Genet"},{"issue":"6","key":"key\n\t\t\t\t2019041113534326200_B14","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/ng.825","article-title":"Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes","volume":"43","author":"Engelen","year":"2011","journal-title":"Nat Genet"},{"issue":"9","key":"key\n\t\t\t\t2019041113534326200_B15","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1093\/hmg\/ddl064","article-title":"Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome","volume":"15","author":"Williamson","year":"2006","journal-title":"Hum Mol Genet"},{"issue":"9","key":"key\n\t\t\t\t2019041113534326200_B16","first-page":"2442","article-title":"Mutations within Sox2\/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans","volume":"116","author":"Kelberman","year":"2006","journal-title":"J Clin Invest"},{"issue":"1","key":"key\n\t\t\t\t2019041113534326200_B17","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.beem.2010.06.008","article-title":"Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond","volume":"25","author":"McCabe","year":"2011","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"6","key":"key\n\t\t\t\t2019041113534326200_B18","doi-asserted-by":"crossref","first-page":"E1068","DOI":"10.1210\/jc.2011-3056","article-title":"PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption","volume":"97","author":"Reynaud","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"key\n\t\t\t\t2019041113534326200_B19","doi-asserted-by":"crossref","first-page":"5621","DOI":"10.1210\/jc.2004-2474","article-title":"CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development","volume":"90","author":"Pinto","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"key\n\t\t\t\t2019041113534326200_B20","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ajmg.a.10917","article-title":"CHARGE association and secondary hypoadrenalism","volume":"117A","author":"James","year":"2003","journal-title":"Am J Med Genet A"},{"issue":"3","key":"key\n\t\t\t\t2019041113534326200_B21","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1210\/jc.2007-1419","article-title":"Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome","volume":"93","author":"Asakura","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"key\n\t\t\t\t2019041113534326200_B22","doi-asserted-by":"crossref","first-page":"E384","DOI":"10.1210\/jc.2010-1050","article-title":"Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly","volume":"95","author":"Fran\u00e7a","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"key\n\t\t\t\t2019041113534326200_B23","doi-asserted-by":"crossref","first-page":"3635","DOI":"10.1172\/JCI64311","article-title":"SOX2 regulates the hypothalamic-pituitary axis at multiple levels","volume":"122","author":"Jayakody","year":"2012","journal-title":"J Clin Invest"},{"issue":"11","key":"key\n\t\t\t\t2019041113534326200_B24","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1093\/hmg\/ddp112","article-title":"Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome","volume":"18","author":"Layman","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"5","key":"key\n\t\t\t\t2019041113534326200_B25","doi-asserted-by":"crossref","first-page":"E858","DOI":"10.1210\/jc.2011-2652","article-title":"The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome","volume":"97","author":"Bergman","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"7","key":"key\n\t\t\t\t2019041113534326200_B26","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1210\/er.2009-0008","article-title":"Genetic regulation of pituitary gland development in human and mouse","volume":"30","author":"Kelberman","year":"2009","journal-title":"Endocr Rev"},{"issue":"2","key":"key\n\t\t\t\t2019041113534326200_B27","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/500273","article-title":"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation","volume":"78","author":"Lalani","year":"2006","journal-title":"Am J Hum Genet"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/98\/4\/E737\/20288410\/jcemE737.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T08:19:16Z","timestamp":1562833156000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/98\/4\/E737\/2537215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,1]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2012-3467","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,1]]}}}