Detalhe da pesquisa
1.
Assembly and organization of the N-terminal region of mucin MUC5AC: Indications for structural and functional distinction from MUC5B.
Proc Natl Acad Sci U S A
; 118(39)2021 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548396
2.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes Chromosomes Cancer
; 62(4): 210-222, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502525
3.
Performance of Next-Generation Sequencing for the Detection of Microsatellite Instability in Colorectal Cancer With Deficient DNA Mismatch Repair.
Gastroenterology
; 161(3): 814-826.e7, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33992635
4.
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Clin Genet
; 99(5): 662-672, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454955
5.
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
6.
MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
Genes Chromosomes Cancer
; 59(2): 111-118, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433521
7.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
8.
DiNAMO: highly sensitive DNA motif discovery in high-throughput sequencing data.
BMC Bioinformatics
; 19(1): 223, 2018 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29890948
9.
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Genet Med
; 20(12): 1589-1599, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790873
10.
The serrated neoplasia pathway of colorectal tumors: Identification of MUC5AC hypomethylation as an early marker of polyps with malignant potential.
Int J Cancer
; 138(6): 1472-81, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26476272
11.
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Gastroenterology
; 149(4): 1017-29.e3, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26116798
12.
MUC5AC hypomethylation is a predictor of microsatellite instability independently of clinical factors associated with colorectal cancer.
Int J Cancer
; 136(12): 2811-21, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25403854
13.
Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene.
Acta Neuropathol
; 140(6): 967-969, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025138
14.
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
15.
TP53 mutations in colorectal cancer from Tunisia: relationships with site of tumor origin, microsatellite instability and KRAS mutations.
Mol Biol Rep
; 41(3): 1807-13, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24443225
16.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778080
17.
KRAS mutations in colorectal cancer from Tunisia: relationships with clinicopathologic variables and data on TP53 mutations and microsatellite instability.
Mol Biol Rep
; 40(11): 6107-12, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24078161
18.
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
Hum Mutat
; 33(1): 180-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21953887
19.
The complex intratumoral heterogeneity of colon cancer highlighted by laser microdissection.
Dig Dis Sci
; 57(5): 1271-80, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22198706
20.
Lynch syndrome in Tunisia: first description of clinical features and germline mutations.
Int J Colorectal Dis
; 26(4): 455-67, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21311894