Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.
|
29415745 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?
|
27716896 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.
|
27862945 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
|
27838393 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
|
26969325 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.
|
26514327 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
|
26969325 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
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 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience.
|
27305697 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging.
|
26973730 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Exploring the genetic basis for clinical variation in neurofibromatosis type 1.
|
27171602 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.
|
27482814 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.
|
26908603 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
126 novel mutations in Italian patients with neurofibromatosis type 1.
|
26740943 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
|
25612910 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.
|
25966637 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
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 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.
|
25480383 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
|
26056819 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Advances in Molecular Diagnosis of Neurofibromatosis Type 1.
|
26706011 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
|
26478990 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
[Phenotypic and genetic features in neurofibromatosis type 1 in children].
|
25541118 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
126 novel mutations in Italian patients with neurofibromatosis type 1.
|
26740943 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
|
25074460 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
|
25074460 |
2015 |