Detalhe da pesquisa
1.
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition.
Breast
; 75: 103721, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554551
2.
Germline multigene panel testing of patients with endometrial cancer.
Oncol Lett
; 25(6): 216, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37153042
3.
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.
Eur J Cancer
; 41(11): 1597-603, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15925506
4.
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.
Eur J Med Genet
; 58(8): 372-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26087224
5.
Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age.
Cancer
; 110(3): 694-702, 2007 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17567834