Condition: Kallmann Syndrome 2 (disorder)


rs606231409 in ANOS1 gene and Kallmann Syndrome 2 (disorder) PMID 23533228 2013 Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

rs121909627 in FGFR1 gene and Kallmann Syndrome 2 (disorder) PMID 7795583 1995 Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

PMID 7874169 1994 A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

PMID 24497711 2013 Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.

PMID 25251565 2014 Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 14613973 2004 Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.

PMID 14564217 2003 The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.

PMID 16957473 2006 FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.

PMID 10942429 2000 A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.

PMID 10861678 2000 Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

PMID 17154279 2007 Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.

PMID 15845591 2005 Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.

PMID 16882753 2006 Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

PMID 22927827 2012 SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

PMID 15001591 2004 Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

PMID 19820032 2009 Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.

PMID 15605412 2005 Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

PMID 12627230 2003 Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

PMID 16764984 2006 Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

PMID 26277103 2015 Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

PMID 16757108 2006 Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

PMID 16606836 2006 Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

PMID 21700882 2011 Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

PMID 28008864 2017 Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.

PMID 28754744 2017 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

PMID 27502037 2016 Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 24204987 2013 Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

rs369176613 in GNRHR;UBA6-AS1 gene and Kallmann Syndrome 2 (disorder) PMID 22745237 2012 When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

rs515726220 in UBA6-AS1;GNRHR gene and Kallmann Syndrome 2 (disorder) PMID 22745237 2012 When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).