Detalhe da pesquisa
1.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131967
2.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res
; 17: 61, 2015 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25925750
3.
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.
Hum Pathol
; 46(8): 1226-31, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26001331
4.
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Eur J Hum Genet
; 23(7): 963-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25335493