×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
25325900
2014
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
23244495
2012
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
25951773
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
26178382
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
17105749
2007
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Watson syndrome: is it a subtype of type 1 neurofibromatosis?
1770531
1991
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
15221447
2004
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Do NF1 gene deletions result in a characteristic phenotype?
9375928
1997
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
22041710
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.
25324428
2015
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
16835897
2006
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
28213670
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
23047742
2013
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
18172006
2008
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
26758488
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.
17369502
2007
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.
23354915
2013
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
6025371
1967
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
16542390
2006
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
23656349
2014
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
22429592
2012
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
27322474
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Neurofibromatosis type 1.
19539839
2009
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
10726756
2000