Detalhe da pesquisa
1.
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
Genes Chromosomes Cancer
; 60(2): 73-78, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33099839
2.
Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.
Clin Genet
; 99(1): 166-175, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33047316
3.
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Genes (Basel)
; 15(2)2024 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397214
4.
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer.
Genes (Basel)
; 14(11)2023 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002934
5.
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature.
Genes (Basel)
; 14(9)2023 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761816
6.
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC Med Genomics
; 16(1): 166, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442961
7.
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
Eur J Med Genet
; 64(9): 104287, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34252586