Detalhe da pesquisa
1.
The French Compassionate Program of elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant.
Eur Respir J
; 2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796836
2.
Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.
Eur Respir J
; 62(4)2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37696564
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.
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
BJOG
; 129(11): 1879-1886, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35486001
5.
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Pancreatology
; 20(7): 1354-1367, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948427
6.
Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.
Andrologia
; 52(11): e13868, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118205
7.
Pitfalls in the interpretation of CFTR variants in the context of incidental findings.
Hum Mutat
; 40(12): 2239-2246, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31350925
8.
Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rare CFTR variants: a viewpoint.
Eur Respir J
; 63(1)2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242629
9.
Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis.
Fetal Diagn Ther
; 45(5): 312-316, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29920495
10.
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Hum Mutat
; 39(4): 506-514, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29271547
11.
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Clin Chem Lab Med
; 56(5): 728-738, 2018 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29613853
12.
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
J Eur Acad Dermatol Venereol
; 37(5): e654-e657, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645858
13.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat
; 38(10): 1297-1315, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603918
14.
Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test.
Eur Respir J
; 60(2)2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35777769
15.
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
J Pediatr
; 181S: S27-S32.e1, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28129809
16.
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
Pancreatology
; 16(4): 515-22, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27086061
17.
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Genet Med
; 17(10): 796-806, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569440
18.
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.
Hum Mutat
; 35(7): 805-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633926
19.
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
J Hum Genet
; 59(4): 206-10, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24451227
20.
DNA comparison between operative and biopsy specimens to investigate stage pT0 after radical prostatectomy.
World J Urol
; 32(4): 899-904, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24671609