Detalhe da pesquisa
1.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
J Med Genet;
61(4): 378-384, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37979962
2.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Am J Hum Genet;
108(10): 1907-1923, 2021 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34597585
3.
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Hum Mutat;
43(3): 316-327, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34882875
4.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
J Med Genet;
57(11): 752-759, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31996412
5.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood;
132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29891534
6.
Melanoma Risk and Melanocyte Biology.
Acta Derm Venereol;
100(11): adv00139, 2020 Jun 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32346747
7.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res;
46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29750258
8.
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
J Am Acad Dermatol;
81(2): 386-394, 2019 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30731170
9.
Senescent cells develop a PARP-1 and nuclear factor-{kappa}B-associated secretome (PNAS).
Genes Dev;
25(12): 1245-61, 2011 Jun 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21646373
10.
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
J Med Genet;
54(9): 607-612, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28592523
11.
Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study.
Genes Chromosomes Cancer;
56(9): 691-694, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28560743
12.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res;
48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31863589
13.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Hum Mutat;
37(12): 1318-1328, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27633797
14.
Germline BAP1 mutations predispose to renal cell carcinomas.
Am J Hum Genet;
92(6): 974-80, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23684012
15.
A germline mutation in PBRM1 predisposes to renal cell carcinoma.
J Med Genet;
52(6): 426-30, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25911086
16.
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Hum Mutat;
35(3): 294-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24302632
17.
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Hum Mutat;
35(1): 15-26, 2014 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24115288
18.
Relationship between genome and epigenome--challenges and requirements for future research.
BMC Genomics;
15: 487, 2014 Jun 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24942464
19.
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.
J Med Genet;
50(4): 264-70, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23384855
20.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Hum Mutat;
33(8): 1228-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22505045