|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
|
25077900 |
2014 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.
|
21168128 |
2011 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.
|
20530987 |
2011 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1.
|
19696444 |
2009 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.
|
17223984 |
2007 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.
|
17213338 |
2007 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
|
17054399 |
2006 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
|
15605412 |
2005 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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.
|
15001591 |
2004 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
|
15471890 |
2004 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
|
11297579 |
2001 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
|
9589672 |
1998 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
|
8989261 |
1997 |
|
Kallmann Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
|
8504298 |
1993 |