A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
about
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutationsGenetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genesWDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHeparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadismDecreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and miceA genetic basis for functional hypothalamic amenorrheaHuman GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neuronsMutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeDigenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadismHypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndromeThe genetic basis of female reproductive disorders: etiology and clinical testingEtiology and treatment of hypogonadism in adolescentsEtiology and treatment of hypogonadism in adolescentsThe role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutationsExpanding the phenotype and genotype of female GnRH deficiencyRole of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturationCommentary: the year in endocrine genetics for basic scientistsCongenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and couplingTwo families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutationFollicle-stimulating hormone synthesis and fertility depend on SMAD4 and FOXL2.GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadismPRR repeats in the intracellular domain of KISS1R are important for its export to cell membrane.The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.Kisspeptin and GPR54: discovery of a novel pathway in reproduction.Genetics of human hypogonadotropic hypogonadism.Genetic aspects of central hypothyroidism.Chaperoning G protein-coupled receptors: from cell biology to therapeuticsGenetic determinants of pubertal timing in the general population.TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthoodNormosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutationsGnRH signaling, the gonadotrope and endocrine control of fertility.Genetics of hypogonadotropic hypogonadism.Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.Genetic counseling for isolated GnRH deficiency.Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse
P2860
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P2860
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A family with hypogonadotropic ...... in-releasing hormone receptor.
@ast
A family with hypogonadotropic ...... in-releasing hormone receptor.
@en
A family with hypogonadotropic ...... in-releasing hormone receptor.
@nl
type
label
A family with hypogonadotropic ...... in-releasing hormone receptor.
@ast
A family with hypogonadotropic ...... in-releasing hormone receptor.
@en
A family with hypogonadotropic ...... in-releasing hormone receptor.
@nl
prefLabel
A family with hypogonadotropic ...... in-releasing hormone receptor.
@ast
A family with hypogonadotropic ...... in-releasing hormone receptor.
@en
A family with hypogonadotropic ...... in-releasing hormone receptor.
@nl
P2093
P1476
A family with hypogonadotropic ...... in-releasing hormone receptor.
@en
P2093
Schaison G
P304
P356
10.1056/NEJM199711273372205
P407
P577
1997-11-01T00:00:00Z