Detalhe da pesquisa
1.
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
J Med Genet
; 59(2): 115-121, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33758026
2.
Screening of potential novel candidate genes in schwannomatosis patients.
Hum Mutat
; 43(10): 1368-1376, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723634
3.
Re-evaluation of missense variant classifications in NF2.
Hum Mutat
; 43(5): 643-654, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332608
4.
Sporadic vestibular schwannoma: a molecular testing summary.
J Med Genet
; 58(4): 227-233, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576656
5.
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Genet Med
; 23(10): 1969-1976, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113003
6.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Genet Med
; 22(1): 53-59, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273341
7.
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Genet Med
; 21(7): 1525-1533, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523344
8.
Schwannomatosis: a genetic and epidemiological study.
J Neurol Neurosurg Psychiatry
; 89(11): 1215-1219, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909380
9.
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
Hum Mutat
; 37(3): 250-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615784
10.
A deep intronic SMARCB1 variant associated with schwannomatosis.
Clin Genet
; 97(2): 376-377, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502250
11.
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Neurogenetics
; 13(2): 141-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434358
12.
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
Am J Med Genet A
; 173(5): 1447-1449, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371307
13.
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.
Am J Med Genet A
; 158A(1): 215-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105938
14.
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.
J Med Genet
; 48(4): 261-5, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278391
15.
Extended gene panel testing in lobular breast cancer.
Fam Cancer
; 21(2): 129-136, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763779
16.
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
Cancers (Basel)
; 13(16)2021 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34439310
17.
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
Cancers (Basel)
; 13(17)2021 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34503154
18.
Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.
Cancers (Basel)
; 12(2)2020 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32045981
19.
Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant.
Fam Cancer
; 18(4): 445-449, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240424
20.
CpG island methylation phenotype (CIMP) in oral cancer: associated with a marked inflammatory response and less aggressive tumour biology.
Oral Oncol
; 43(9): 878-86, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17257884