|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
|
1302608 |
1992 |
|
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 |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defects in the NF1 gene have been implicated in the inherited disorder neurofibromatosis type 1, which is characterized by several developmental abnormalities including an increased frequency of benign and malignant tumours of neural crest origin (neurofibromas and neurofibrosarcomas respectively).
|
1570015 |
1992 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
If we assume that dual-color FISH analysis is sensitive enough to detect the majority of large somatic deletions present, then other mutational mechanisms affecting the NF1 gene are probably involved in neurofibroma formation, and other tumor suppressor genes may play an important role in NF1 tumorigenesis.
|
15066327 |
2004 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A new insight into our understanding of neurofibromatosis type 1?
|
15096131 |
2004 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most patients with neurofibromatosis (NF1) are endowed with heterozygous mutations in the NF1 gene.
|
18160797 |
2007 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients.
|
9150739 |
1997 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The NF1 gene, which is responsible for the susceptibility to neurofibromatosis type 1, has recently been isolated.
|
1909900 |
1991 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene.
|
16033085 |
2005 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first reported case of monozygotic twins discordant for NF1 in whom mosaicism for a postzygotic NF1 gene mutation has been observed in the affected but not the unaffected twin.
|
21618341 |
2011 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated the clinical characteristics and NF1 gene mutation analysis of 3 unrelated Indian families with neurofibromatosis type 1.
|
29680440 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
16835897 |
2006 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by NF1 gene mutation, and clinically characterized by multiple cutaneous neurofibromas and café-au-lait spots.
|
29079545 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations of the p53 and neurofibromin genes are thought to cause two distinct neoplastic disorders in which gliomas occur, the Li-Fraumeni syndrome and neurofibromatosis type 1.
|
8285583 |
1994 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.
|
23947441 |
2013 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although a mutation in the NF1 gene is the only factor required to initiate the neurocutaneous-skeletal neurofibromatosis 1 (NF1) syndrome, the pathoetiology of the multiple manifestations of this disease in different organ systems seems increasingly complex.
|
21457932 |
2011 |