Detalhe da pesquisa
1.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
J Med Genet
; 60(7): 685-691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446584
2.
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
J Genet Couns
; 32(4): 778-787, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748747
3.
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.
Clin Gastroenterol Hepatol
; 20(3): 611-621.e9, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157315
4.
Patients' and professionals' perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic.
Genet Med
; 23(8): 1450-1457, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824504
5.
Clinical and Pathological Characterization of Lynch-Like Syndrome.
Clin Gastroenterol Hepatol
; 18(2): 368-374.e1, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31220642
6.
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
J Med Genet
; 56(2): 63-74, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472649
7.
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Int J Cancer
; 145(10): 2682-2691, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30927264
8.
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Breast Cancer Res Treat
; 174(2): 543-550, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552643
9.
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Hum Mutat
; 39(9): 1155-1160, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969168
10.
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Orphanet J Rare Dis
; 19(1): 26, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279137
11.
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Fam Cancer
; 22(1): 99-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781852
12.
Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma.
Nat Commun
; 14(1): 1122, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36854674
13.
Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma.
Front Endocrinol (Lausanne)
; 13: 1070074, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36760809
14.
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.
Nat Cancer
; 3(2): 251-261, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35221333
15.
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Cancer Genet
; 258-259: 10-17, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237702
16.
Risk of Cancer in Family Members of Patients with Lynch-Like Syndrome.
Cancers (Basel)
; 12(8)2020 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32784934
17.
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.
Cancers (Basel)
; 12(11)2020 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33167498
18.
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Front Genet
; 9: 366, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30233647
19.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
J Cancer Res Clin Oncol
; 144(12): 2495-2513, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30306255
20.
Author Correction: The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.
Nat Cancer
; 3(5): 649, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35449310