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.
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
J Med Genet
; 50(6): 360-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23564750
3.
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Hum Mutat
; 28(6): 638-9, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17437276
4.
Communicating BRCA1 and BRCA2 genetic test results.
J Clin Oncol
; 24(18): 2969-70; author reply 2970-1, 2006 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-16782939