Detalhe da pesquisa
1.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet;
98(3): 500-513, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26942284
2.
Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR.
Hum Mutat;
39(3): 441-453, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29227006
3.
Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes.
Breast Cancer Res;
19(1): 98, 2017 Aug 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28830573
4.
Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.
Blood;
133(25): 2718-2724, 2019 06 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30914417
5.
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Nat Genet;
39(9): 1120-6, 2007 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17704776
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.
FSuite: exploiting inbreeding in dense SNP chip and exome data.
Bioinformatics;
30(13): 1940-1, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24632498
8.
A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Mov Disord;
30(8): 1130-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26010069
9.
Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III.
Hum Hered;
77(1-4): 49-62, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25060269
10.
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
N Engl J Med;
365(7): 620-8, 2011 Aug 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21848462
11.
The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long-lived French individuals and their offspring for longevity studies.
Geroscience;
46(2): 2681-2695, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38141157
12.
Comparative power of family-based association strategies to detect disease-causing variants under two-locus models.
Genet Epidemiol;
36(8): 848-55, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22887021
13.
Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?
Hum Hered;
74(3-4): 142-52, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23594492
14.
Centenarians consistently present a younger epigenetic age than their chronological age with four epigenetic clocks based on a small number of CpG sites.
Aging (Albany NY);
14(19): 7718-7733, 2022 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36202132
15.
A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies.
Sci Rep;
12(1): 4684, 2022 03 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35304543
16.
Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoter.
Sci Rep;
10(1): 15652, 2020 09 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32973211
17.
Tumor DNA hypomethylation of LINE-1 is associated with low tumor grade of breast cancer in Tunisian patients.
Oncol Lett;
20(2): 1999-2006, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32724446
18.
Correction to: The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally longlived French individuals and their offspring for longevity studies.
Geroscience;
46(3): 3503-3505, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38273141
19.
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.
Eur J Hum Genet;
26(12): 1832-1839, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30089827
20.
Estimating the odds ratios of Crohn disease for the main CARD15/NOD2 mutations using a conditional maximum likelihood method in pedigrees collected via affected family members.
Eur J Hum Genet;
15(8): 864-71, 2007 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17457368