×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
28213670
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
27170677
2017
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
CLINVAR
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
25951773
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
26758488
2016
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
CLINVAR
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
24219125
2014
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
CLINVAR
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
23812910
2013
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
22429592
2012
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
CLINVAR
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
22604720
2012
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Increased risk of breast cancer in women with NF1.
23165953
2012
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Legius syndrome in fourteen families.
21089071
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
22041710
2011
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
20142468
2010
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
19920235
2009
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Neurofibromatosis type 1 revisited.
19117870
2009
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
CLINVAR
Neurofibromatosis type 1.
19539839
2009
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
CLINVAR
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
17105749
2007