rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
|
27170677 |
2017 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
|
26758488 |
2016 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.
|
25324428 |
2015 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
|
23656349 |
2014 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
|
25325900 |
2014 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
|
23047742 |
2013 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
|
22041710 |
2011 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
|
20142468 |
2010 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1.
|
19539839 |
2009 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1 revisited.
|
19117870 |
2009 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
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 |