Detalhe da pesquisa
1.
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
J Neurooncol
; 137(1): 33-38, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29230670
2.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130695
3.
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Childs Nerv Syst
; 33(6): 933-940, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365909
4.
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
J Mol Diagn
; 20(1): 87-94, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29061375
5.
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
JCO Precis Oncol
; 22018.
Artigo
em Inglês
| MEDLINE | ID: mdl-31517176
6.
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
PLoS One
; 10(6): e0129099, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26066488