Detalhe da pesquisa
1.
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
J Med Genet
; 57(7): 487-499, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992580
2.
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Am J Hum Genet
; 98(5): 830-842, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087319
3.
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
BMC Pediatr
; 18(1): 286, 2018 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157809
4.
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Hum Mutat
; 38(10): 1432-1441, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744936
5.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Hum Mutat
; 37(12): 1299-1307, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600092
6.
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.
Nat Genet
; 39(8): 989-94, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17618283
7.
The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.
Hum Mutat
; 35(5): 532-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599579
8.
High-resolution analysis of DNA copy number alterations in rectal cancer: correlation with metastasis, survival, and mRNA expression.
Strahlenther Onkol
; 190(11): 1028-36, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24770938
9.
Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value.
PLoS Med
; 10(5): e1001453, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23700391
10.
Semiparametric inference on the penetrances of rare genetic mutations based on a case-family design.
J Stat Plan Inference
; 143(2): 368-377, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23329866
11.
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet Oncol
; 13(12): 1242-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23140761
12.
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet
; 378(9809): 2081-7, 2011 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036019
13.
Predictive value of vascular endothelial growth factor polymorphisms for maintenance bevacizumab efficacy in metastatic colorectal cancer: an ancillary study of the PRODIGE 9 phase III trial.
Ther Adv Med Oncol
; 14: 17588359221141307, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36601631
14.
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.
N Engl J Med
; 359(24): 2567-78, 2008 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-19073976
15.
Statistical inference on the penetrances of rare genetic mutations based on a case-family design.
Biostatistics
; 11(3): 519-32, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179148
16.
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.
BMC Neurol
; 11: 9, 2011 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21255467
17.
Genomic variations integrated database for MUTYH-associated adenomatous polyposis.
J Med Genet
; 52(1): 25-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25368107
18.
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
J Med Genet
; 47(10): 721-2, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685668
19.
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
JAMA
; 305(22): 2304-10, 2011 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21642682
20.
Inhibition of P53-mediated cell cycle control as the determinant in dedifferentiated liposarcomas development.
Am J Cancer Res
; 11(6): 3271-3284, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34249461