|
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 |
UNIPROT |
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
|
17160901 |
2007 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
NF1 did not recombine with either TH17.19 or HHH202 in any of the informative meioses surveyed (maximum lod scores of 17.04 and 7.21, respectively, at a recombination fraction of .00), indicating that these markers map very close to the NF1 gene.
|
2491779 |
1989 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Microdeletions of the entire NF1 gene and surrounding genomic region occur in about 5% of patients with neurofibromatosis 1 (NF1).
|
26111455 |
2016 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.
|
19221814 |
2009 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, the known somatic mutational spectrum for the NF1 gene in a range of NF1-associated neoplasms - including peripheral nerve sheath tumours (neurofibromas), malignant peripheral nerve sheath tumours, gastrointestinal stromal tumours, gastric carcinoid, juvenile myelomonocytic leukaemia, glomus tumours, astrocytomas and phaeochromocytomas - have been collated and analysed.
|
22155606 |
2011 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The high rate of NF1 allele loss in NF1-associated pilocytic astrocytomas suggests a tumor initiating or promoting action of the NF1 gene in these patients.
|
11556548 |
2001 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.
|
23780384 |
2013 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
|
17426081 |
2007 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene.
|
11857752 |
2002 |
|
Neurofibromatosis 1
|
1.000 |
AlteredExpression
|
disease |
LHGDN |
In an effort to determine the contribution of the NF1 gene product, neurofibromin, to astrocyte growth regulation and NF1-associated astrocytoma formation, we generated astrocyte-specific Nf1 conditional knockout mice (Nf1(GFAP)CKO) by using Cre/LoxP technology.
|
12077339 |
2002 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
[Cardiac life support for acute coronary syndrome].
|
12808981 |
2003 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.
|
19142971 |
2009 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
|
1302608 |
1992 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pulmonary hypertension in patients with neurofibromatosis type I.
|
21512413 |
2011 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
MGD |
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1.
|
11279521 |
2001 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.
|
24932921 |
2014 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients.
|
8834249 |
1996 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I.
|
7519874 |
1994 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
|
1757093 |
1991 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.
|
28068329 |
2017 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mapping of the EVI2 gene between the translocation breakpoints of two patients with neurofibromatosis type 1 (NF1), combined with the likely role of its murine homolog in neoplastic disease, implicates EVI2 as a possible candidate for the NF1 gene.
|
2117566 |
1990 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The NF1 gene has been identified and direct testing for the NF1 mutation is now possible.
|
8104099 |
1993 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.
|
17726231 |
2007 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Anorectal malignant melanoma in NF1 is extremely rare, and genetic studies of the NF1 gene in such patients have not been reported.
|
11706558 |
2001 |