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Title: Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism

Journal Article · · Fertility and Sterility

Not Available

Sponsoring Organization:
USDOE Office of Electricity (OE), Advanced Grid Research & Development. Power Systems Engineering Research
OSTI ID:
1889324
Journal Information:
Fertility and Sterility, Journal Name: Fertility and Sterility Journal Issue: 1 Vol. 113; ISSN 0015-0282
Publisher:
ElsevierCopyright Statement
Country of Publication:
United States
Language:
English

References (37)

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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules journal October 1991
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness journal May 2013
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism journal May 2013
Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism journal August 2018
A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient journal July 2017
Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome journal June 2019
Tissue-specific requirements for FGF8 during early inner ear development journal October 2009
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome journal June 2010
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations journal August 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology journal March 2015
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants journal August 2018
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome journal March 2003
European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment journal July 2015
Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization* journal August 2001
Reversal of Idiopathic Hypogonadotropic Hypogonadism journal August 2007
Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors journal February 2003
Receptor Specificity of the Fibroblast Growth Factor Family: THE COMPLETE MAMMALIAN FGF FAMILY journal April 2006
Fast and accurate long-read alignment with Burrows–Wheeler transform journal January 2010
Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome journal February 2016
PROKR2mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to aGα‐protein leads to biased signaling journal December 2018
FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome journal January 2013
Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain journal January 2006
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data journal July 2010
Factors affecting spermatogenesis upon gonadotropin-replacement therapy: a meta-analytic study journal October 2014
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice journal August 2008
Assisted reproductive techniques with congenital hypogonadotropic hypogonadism patients: a systematic review and meta-analysis journal November 2018
Predictors of Outcome of Long-Term GnRH Therapy in Men with Idiopathic Hypogonadotropic Hypogonadism journal September 2002
Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (KAL1) and Fibroblast Growth Factor Receptor 1 (FGFR1, orKAL2) in Five Families and 18 Sporadic Patients journal March 2004
Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
  • Costa-Barbosa, Flavia Amanda; Balasubramanian, Ravikumar; Keefe, Kimberly W.
  • The Journal of Clinical Endocrinology & Metabolism, Vol. 98, Issue 5 https://doi.org/10.1210/jc.2012-4116
journal May 2013
Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System journal March 2014
Replacement of Male Mini-Puberty journal May 2019
Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations journal June 2012
Anosmin-1 Modulates Fibroblast Growth Factor Receptor 1 Signaling in Human Gonadotropin-Releasing Hormone Olfactory Neuroblasts through a Heparan Sulfate-Dependent Mechanism journal November 2004
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome journal December 2012
Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future journal January 2015
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience journal January 2015

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