Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.
|
28008864 |
2017 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
|
28754744 |
2017 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
|
27502037 |
2016 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
|
25394172 |
2015 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
|
25759380 |
2015 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
|
26277103 |
2015 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
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 2 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
|
25251565 |
2014 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
|
23812909 |
2013 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
|
24497711 |
2013 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.
|
24204987 |
2013 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
|
22927827 |
2012 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
|
21700882 |
2011 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
|
19820032 |
2009 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
|
17154279 |
2007 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
|
16764984 |
2006 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
|
16606836 |
2006 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
|
16757108 |
2006 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
|
16764984 |
2006 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
|
16957473 |
2006 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
|
16882753 |
2006 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
|
15605412 |
2005 |
Kallmann Syndrome 2 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.
|
15845591 |
2005 |