Abstract The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family
Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to ...
Mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene are the cause of isolated hypo...
Introduction: Mutations of the human GNRH1 gene are an extremely rare cause of normosmic idiopathic ...
The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*...
CONTEXT: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadi...
PubMedID: 22766261Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characteri...
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion ...
Context: Mutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified i...
CONTEXT: Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B and ...
mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadis...
<div><h3>Context</h3><p><em>KISS1R</em> mutations have been reported in few patients with normosmic ...
PubMedID: 19079066The timely secretion of gonadal sex steroids is essential for the initiation of pu...
ObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to e...
International audienceThe coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hy...
PubMedID: 26680571Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerab...
Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to ...
Mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene are the cause of isolated hypo...
Introduction: Mutations of the human GNRH1 gene are an extremely rare cause of normosmic idiopathic ...
The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*...
CONTEXT: TAC3/TACR3 mutations have been reported in normosmic congenital hypogonadotropic hypogonadi...
PubMedID: 22766261Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characteri...
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion ...
Context: Mutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified i...
CONTEXT: Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B and ...
mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadis...
<div><h3>Context</h3><p><em>KISS1R</em> mutations have been reported in few patients with normosmic ...
PubMedID: 19079066The timely secretion of gonadal sex steroids is essential for the initiation of pu...
ObjectiveThe spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to e...
International audienceThe coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hy...
PubMedID: 26680571Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerab...
Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to ...
Mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene are the cause of isolated hypo...
Introduction: Mutations of the human GNRH1 gene are an extremely rare cause of normosmic idiopathic ...
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