Detalhe da pesquisa
1.
Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Prenat Diagn
; 44(5): 555-561, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448008
2.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
; 24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311657
3.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997314
4.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379041
5.
Usefulness and reliability of cell free fetal DNA screening for main trisomies in case of atypical profile on first trimester maternal serum screening.
J Transl Med
; 17(1): 398, 2019 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31779618
6.
Occurrence and species diversity of human-pathogenic Mucorales in commercial food-stuffs purchased in Paris area.
Med Mycol
; 57(6): 739-744, 2019 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30428080
7.
Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
Prenat Diagn
; 39(11): 1011-1015, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31429096
8.
Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach.
Fetal Diagn Ther
; 45(5): 302-311, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29898450
9.
Autoimmune disorders but not heparin are associated with cell-free fetal DNA test failure.
J Transl Med
; 16(1): 335, 2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30509296
10.
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study.
Genet Med
; 20(11): 1346-1353, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493578
11.
Fungal and Bacterial Diversity of Airway Microbiota in Adults with Cystic Fibrosis: Concordance Between Conventional Methods and Ultra-Deep Sequencing, and Their Practical use in the Clinical Laboratory.
Mycopathologia
; 183(1): 171-183, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28766039
12.
Echinocandin Resistance in Candida Species Isolates from Liver Transplant Recipients.
Antimicrob Agents Chemother
; 61(2)2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27855078
13.
Diagnostic accuracy of fetal rhesus D genotyping using cell-free fetal DNA during the first trimester of pregnancy.
Am J Obstet Gynecol
; 215(5): 606.e1-606.e5, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27393271
14.
A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15.
Blood Cells Mol Dis
; 54(1): 53-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159120
15.
Correlation Between Pneumocystis jirovecii Mitochondrial Genotypes and High and Low Fungal Loads Assessed by Single Nucleotide Primer Extension Assay and Quantitative Real-Time PCR.
J Eukaryot Microbiol
; 62(5): 650-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25940946
16.
High diversity of non-sporulating moulds in respiratory specimens of immunocompromised patients: should all the species be reported when diagnosing invasive aspergillosis?
Mycoses
; 58(9): 557-64, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26214496
17.
Direct genotyping of Toxoplasma gondii from amniotic fluids based on B1 gene polymorphism using minisequencing analysis.
BMC Infect Dis
; 13: 552, 2013 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24252188
18.
The Molecular Identification and Antifungal Susceptibility of Clinical Isolates of Aspergillus Section Flavi from Three French Hospitals.
Microorganisms
; 11(10)2023 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37894087
19.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Eur J Hum Genet
; 31(7): 761-768, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450799
20.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology
; 100(23): e2360-e2373, 2023 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076312