×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
GeneticVariation
CLINVAR
KLB , encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
28754744
2017
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
27502037
2016
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
25251565
2014
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
24127277
2013
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
24497711
2013
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
GeneticVariation
CLINVAR
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
16764984
2006
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
16957473
2006
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
14613973
2004
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
14564217
2003
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
12627230
2003
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.
10942429
2000
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
10861678
2000
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
7795583
1995
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Pfeiffer Syndrome
0.900
CausalMutation
CLINVAR
Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1 ) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome .
7874169
1994
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750
CausalMutation
CLINVAR
In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism.
24888332
2014
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750
CausalMutation
CLINVAR
Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome , consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1 -deficient mice.
23812909
2013
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750
GeneticVariation
CLINVAR
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740
CausalMutation
CLINVAR
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740
GeneticVariation
CLINVAR
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Osteoglophonic dwarfism
0.730
CausalMutation
CLINVAR
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Osteoglophonic dwarfism
0.730
GeneticVariation
CLINVAR
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.720
GeneticVariation
CLINVAR
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.
28008864
2017
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.720
GeneticVariation
CLINVAR
KLB , encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
28754744
2017
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.720
CausalMutation
CLINVAR
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
27502037
2016
×
Entrez Id:
2260
Gene Symbol:
FGFR1
FGFR1
Kallmann Syndrome 2 (disorder)
0.720
CausalMutation
CLINVAR
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
25251565
2014