|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
126 novel mutations in Italian patients with neurofibromatosis type 1.
|
26740943 |
2015 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2.
|
11857752 |
2002 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that is caused by a mutation in the NF1 gene.
|
11910511 |
2002 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
|
12872266 |
2003 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the neurofibromin gene.
|
16740526 |
2006 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease caused by various types of mutations in the NF1 gene.
|
17718862 |
2007 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is a hereditary disease caused by mutations of the NF1 gene at 17q11.2.
|
18360307 |
2008 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is caused by NF1 gene mutations.
|
19639020 |
2010 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin.
|
20160346 |
2010 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
NF1 is caused by a mutation in the NF1 tumor suppressor gene that encodes the protein neurofibromin.
|
20233971 |
2010 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene.
|
21354044 |
2011 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in the NF1 gene resulting in an increased Ras signaling cascade.
|
21495174 |
2011 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
NF1 is caused by mutation in the gene encoding neurofibromin, a negative regulator of Ras signaling.
|
21697395 |
2011 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
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 |