rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
|
27170677 |
2017 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
|
26758488 |
2016 |
rs1555535052
|
|
TTA |
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 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.
|
25324428 |
2015 |
rs1555535052
|
|
TTA |
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 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
|
23656349 |
2014 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
|
25325900 |
2014 |
rs1555535052
|
|
TTA |
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 |
rs1555535052
|
|
TTA |
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 |
rs1555535052
|
|
TTA |
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 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
rs1555535052
|
|
TTA |
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 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
|
22041710 |
2011 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
|
20142468 |
2010 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1 revisited.
|
19117870 |
2009 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1.
|
19539839 |
2009 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
rs1555535052
|
|
TTA |
0.700 |
CausalMutation |
CLINVAR |
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
|
17105749 |
2007 |