Detalhe da pesquisa
1.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Br J Dermatol
; 190(2): 226-243, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831592
2.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet
; 142(1): 1-9, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35941319
3.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
4.
Highly Specific Droplet-Digital PCR Detection of Universally Methylated Circulating Tumor DNA in Endometrial Carcinoma.
Clin Chem
; 68(6): 782-793, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323926
5.
Accuracy of saliva and nasopharyngeal sampling for detection of SARS-CoV-2 in community screening: a multicentric cohort study.
Eur J Clin Microbiol Infect Dis
; 40(11): 2379-2388, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342768
6.
DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
Hum Mutat
; 41(3): 608-618, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729086
7.
Natural history of peripheral nerve schwannomas.
Acta Neurochir (Wien)
; 162(8): 1883-1889, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32556523
8.
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Hum Mutat
; 40(10): 1690-1699, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31033087
9.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050087
10.
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
Hum Mutat
; 37(5): 488-94, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857394
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.
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
Hum Mol Genet
; 22(10): 1940-8, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23376981
13.
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
J Hum Genet
; 60(4): 221-4, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631097
14.
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Hum Mol Genet
; 21(26): 5397-405, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22962301
15.
Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1.
Front Cell Dev Biol
; 12: 1359561, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481529
16.
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
J Mol Diagn
; 26(2): 150-157, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38008284
17.
Usefulness and analytical performances of complement multiplex assay for measuring complement biomarkers in plasma.
Clin Chim Acta
; 554: 117750, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38176523
18.
Neutralizing Antibody Levels as a Correlate of Protection Against SARS-CoV-2 Infection: A Modeling Analysis.
Clin Pharmacol Ther
; 115(1): 86-94, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795693
19.
Serum and Salivary IgG and IgA Response After COVID-19 Messenger RNA Vaccination.
JAMA Netw Open
; 7(4): e248051, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652471
20.
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
Hum Mutat
; 34(11): 1510-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913538