×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
Biomarker
BEFREE
(2008) demonstrate that mast cells heterozygous for the Nf1 gene promote the growth of neurofibromas in a mouse model of neurofibromatosis and that genetic and pharmacological inhibition of these cells is sufficient to block tumor growth.
18984150
2008
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
CausalMutation
CLINVAR
126 novel mutations in Italian patients with neurofibromatosis type 1.
26740943
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is a dominant disorder caused by mutations in the NF1 gene; approximately 100 NF1 gene mutations have been published.
10336779
1998
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene.
10862084
2000
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis 1 (NF1 ) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2.
11857752
2002
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is a common autosomal dominant genetic disorder that is caused by a mutation in the NF1 gene.
11910511
2002
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type I (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, leading to a variety of abnormalities in cell growth and differentiation, and to learning disabilities.
12524206
2003
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
12872266
2003
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is caused by mutations of the NF1 gene and NF1 patients have an increased risk of developing GISTs.
14694524
2004
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1) microdeletion syndrome is caused by haploinsufficiency of the NF1 gene and of gene(s) located in adjacent flanking regions.
15676286
2005
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1) is a common neurocutaneous disorder, inherited as an autosomal dominant trait and caused by mutations in the NF1 gene.
15833774
2005
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the neurofibromin gene.
16740526
2006
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1), characterized by skin neurofibromas and an excess of café-au-lait spots, is due to mutations in the neurofibromin (NF1 ) gene.
16835897
2006
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is a common autosomal dominant disease caused by various types of mutations in the NF1 gene.
17718862
2007
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is a hereditary disease caused by mutations of the NF1 gene at 17q11.2.
18360307
2008
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is caused by NF1 gene mutations.
19639020
2010
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin .
20160346
2010
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
Biomarker
BEFREE
NF1 is caused by a mutation in the NF1 tumor suppressor gene that encodes the protein neurofibromin .
20233971
2010
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis 1 (NF1), also called von Recklinghausen disease or peripheral NF, is a common autosomal-dominant neurocutaneous disorder associated with mutations of the NF 1 gene.
20424878
2010
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
Biomarker
BEFREE
NF1 encodes the Ras specific GTPase activating protein (RasGAP) neurofibromin , of which the central RasGAP related domain as well as a Sec14-like (residues 1560-1699) and a tightly interacting pleckstrin homology (PH)-like (1713-1818) domain are currently well defined.
21089070
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene.
21354044
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is caused by inactivating mutations in the NF1 gene resulting in an increased Ras signaling cascade.
21495174
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
NF1 is caused by mutation in the gene encoding neurofibromin , a negative regulator of Ras signaling.
21697395
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Neurofibromatosis 1
1.000
GeneticVariation
BEFREE
Neurofibromatosis type 1 (NF1 ) is a genetic disease that results from either heritable or spontaneous autosomal dominant mutations in the NF1 gene.
22077553
2012