Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation at codon 102 of the FGFR1 gene was found in the patient, but the father was found to have the same mutation yet is unaffected by Kallmann syndrome.
|
31741254 |
2019 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Indeed, FGF8 and FGFR1 deficiency severely compromises vertebrate reproduction in mice and humans and is associated with Kallmann Syndrome (KS), a congenital disease characterized by hypogonadotropic hypogonadism associated with anosmia.
|
31361780 |
2019 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome.
|
29228280 |
2018 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing.
|
29658329 |
2018 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.
|
28008864 |
2017 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 1 (FGFR1), a tyrosine kinase receptor, was one of the first genes whose mutations were identified as causative in KS FGFR1 is responsible for the formation of the GnRH neuron system.
|
28778954 |
2017 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients.
|
28411082 |
2017 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10).
|
26680571 |
2016 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
NGS with confirmation by Sanger sequencing resulted in the identification of new causative FGFR1 gene mutations and suggested 18 new candidate genes in nHH/KS.
|
27502037 |
2016 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
|
26277103 |
2015 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations.
|
26051373 |
2015 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this retrospective cohort study, we investigated childhood growth in six females with KS due to mutations in FGFR1 and evaluated their reproductive phenotypes later in life.
|
24841555 |
2015 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene.
|
26199944 |
2015 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
|
25501157 |
2014 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to present a case report of a genetic diagnosis of KS linked to the presence of mutations in the FGFR1 (fibroblast growth factor receptor 1, also known as KAL2) gene.
|
24776628 |
2014 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Diverse mutations in PROKR2, a gene involved both in monogenic recessive and digenic/oligogenic KS transmission modes, were found in 23.3% of the Maghrebian patients, but only in 5.1% of the European patients (Fisher's exact test, P<0.001), whereas mutations in each of the other four KS genes were present either at similar frequencies in the Maghrebian and European patients (KAL1, PROK2, FGF8, from 6.6 to 0.8%; Fisher's exact test, P>0.4 for all comparisons) or at a lower frequency in Maghrebian patients (FGFR1, 5.0 vs 11.7%; Fisher's exact test, P<0.05).
|
24031091 |
2013 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The protein anosmin-1, coded by the KAL1 gene responsible for the X-linked form of Kallmann syndrome (KS), exerts its biological effects mainly through the interaction with and signal modulation of fibroblast growth factor receptor 1 (FGFR1).
|
23189990 |
2013 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a female with combined pituitary hormone deficiencies (GH, TSH, gonadotropin and ACTH), except for prolactin, as a consequence of PROP1 mutation, and a male with KS (anosmia and IHH) due to Kal 2 gene (fibroblast growth factor receptor 1- FGFR1) mutation, both of whom in adulthood presented with prolactinomas.
|
22801565 |
2013 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FGFR1 mutations have been identified in both Kallmann syndrome and normosmic HH (nIHH).
|
23276709 |
2013 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gain or loss of function due to missense mutations in FGFR1 is responsible for a variety of disorders including Kallmann syndrome, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, etc.
|
23329143 |
2013 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate skeletal phenotypic characterization of patients presented with KS and FGFR1 mutations.
|
23154428 |
2012 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome.
|
22771917 |
2012 |
Kallmann Syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1).
|
22319038 |
2012 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.
|
22751423 |
2012 |
Kallmann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1).
|
22319038 |
2012 |