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induced fertility in a patient with previously untreated Kallmann s syndrome","author":"Rowe","year":"1983","journal-title":"Fertil Steril"},{"key":"ref161","first-page":"48","article-title":"de Isolated gonadotropic deficiency with and without anosmia : developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis","volume":"64","author":"Roux","year":"2005","journal-title":"Horm Res"},{"key":"ref11","doi-asserted-by":"crossref","DOI":"10.1038\/nn1326","article-title":"The neural basis of puberty","author":"Sisk","year":"2004","journal-title":"adolescence Nat Neurosci"},{"key":"ref311","first-page":"65","article-title":"in reproduction Trends","volume":"12","author":"Caprio","year":"2001","journal-title":"Endocrinol Metab"},{"key":"ref141","first-page":"324","article-title":"releasing hormone and its analogues","author":"Conn","year":"1991","journal-title":"Engl J Med"},{"key":"ref491","first-page":"87","article-title":"protein coupled receptors the protein family In editor Handbook of Section Volume Cellular endocrinology New York University","author":"Ulloa","year":"1998","journal-title":"physiology USA"},{"key":"ref861","first-page":"324","article-title":"releasing hormone and its analogues","author":"Conn","year":"1991","journal-title":"Engl J Med"},{"key":"ref1011","doi-asserted-by":"crossref","DOI":"10.1210\/jc.2006-2147","article-title":"Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a inactivating mutation of","author":"Tenenbaum","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref1201","first-page":"2680","article-title":"EM Two novel mutations in the gonadotropinreleasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction","author":"Costa","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"ref971","first-page":"1","article-title":"Advanced vaginal opening and precocious activation of the reproductive axis by peptide the endogenous ligand of","author":"Navarro","year":"2004"},{"key":"ref1171","first-page":"1","article-title":"hyperphagia and increased metabolic efficiency in Pc mutant mice","volume":"15","author":"Bohan","year":"2006","journal-title":"Lloyd Obesity Hum Mol Genet"},{"key":"ref501","first-page":"392","article-title":"Subregional mapping of the human gonadotropin - releasing hormone receptor gene to q between markers","author":"Kottler","year":"1995","journal-title":"Hum Genet"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"3633","DOI":"10.1210\/jc.2009-0551","article-title":"Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin receptor","author":"Guran","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref1081","first-page":"1","article-title":"reproduction focus on its role in the metabolic regulation of fertility","author":"Tena","year":"2006","journal-title":"Neuroendocrinology"},{"key":"ref1101","doi-asserted-by":"crossref","first-page":"3633","DOI":"10.1210\/jc.2009-0551","article-title":"Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin receptor","author":"Guran","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1055\/s-2007-980221","article-title":"The genetics of hypogonadotropic hypogonadism","volume":"25","author":"Bhagavath","year":"2007","journal-title":"Semin Reprod Med"},{"key":"ref541","first-page":"87","article-title":"Molecular basis of hypogonadotropic hypogonadism : restoration of mutant receptor function by a deletion at a distant site","author":"Maya","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"ref571","first-page":"3811","article-title":"Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin - releasing hormone receptor","author":"Pralong","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"ref1331","first-page":"89","article-title":"AU New GnRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight differential sensitivity of to","author":"Meysing","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"ref1261","first-page":"87","article-title":"Molecular basis of hypogonadotropic hypogonadism : restoration of mutant receptor function by a deletion at a distant site","author":"Maya","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"ref731","doi-asserted-by":"crossref","DOI":"10.1038\/nn1326","article-title":"The neural basis of puberty","author":"Sisk","year":"2004","journal-title":"adolescence Nat Neurosci"},{"key":"ref871","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1210\/edrv-15-4-462","article-title":"releasing hormone receptors structure and signal transduction pathways","volume":"15","author":"Stojilkovic","year":"1994","journal-title":"Endocr Rev"},{"key":"ref221","first-page":"1","article-title":"de Hypogonadotropic hypogonadism due to loss of function of the derived peptide receptor","author":"Roux","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref1221","first-page":"392","article-title":"Subregional mapping of the human gonadotropin - releasing hormone receptor gene to q between markers","author":"Kottler","year":"1995","journal-title":"Hum Genet"},{"key":"ref411","first-page":"333","article-title":"Brief report : impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function","author":"Rahilly","year":"1995","journal-title":"Engl J Med"},{"key":"ref131","first-page":"505","article-title":"Idiopathic hypogonadotropic hypogonadism associated with a novel mutation in the GnRH receptor gene Program of the th Annual Meeting of The Endocrine New Orleans","author":"Pralong","year":"1998","journal-title":"Society"},{"key":"ref641","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1016\/j.fertnstert.2005.04.029","article-title":"The prevalence of gonadotropin - releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism","author":"Bhagavath","year":"2005","journal-title":"Fertil Steril"}],"updated-by":[{"DOI":"10.1515\/jpem-2014-0999","type":"retraction","label":"Retraction","source":"retraction-watch","updated":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"record-id":"4065"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0061\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T21:35:13Z","timestamp":1619040913000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0061\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,1]]},"references-count":124,"journal-issue":{"issue":"5-6"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2013-0061","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1,1]]}}}