Detalhe da pesquisa
1.
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Hum Mutat
; 41(2): 375-386, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31674704
2.
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
3.
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
4.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Fetal Diagn Ther
; 45(6): 403-412, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121677
5.
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.
Clin Chem Lab Med
; 56(7): 1046-1053, 2018 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427548
6.
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
7.
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
8.
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
9.
Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.
Clin Chem Lab Med
; 53(2): 205-15, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274949
10.
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
Hum Mutat
; 34(5): 774-84, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23381846
11.
Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
J Cyst Fibros
; 22(1): 17-30, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916675
12.
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
J Cyst Fibros
; 21(3): 448-455, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949556
13.
Exon identity influences splicing induced by exonic variants and in silico prediction efficacy.
J Cyst Fibros
; 20(3): 464-472, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33341408
14.
Pregnane X Receptor (PXR) expression in colorectal cancer cells restricts irinotecan chemosensitivity through enhanced SN-38 glucuronidation.
Mol Cancer
; 9: 46, 2010 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-20196838
15.
High-resolution melting analysis of sequence variations in the cytidine deaminase gene (CDA) in patients with cancer treated with gemcitabine.
Ther Drug Monit
; 32(1): 53-60, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20010457
16.
Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement.
J Cyst Fibros
; 19(6): 969-974, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32505523
17.
Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.
Andrology
; 8(3): 618-624, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845523
18.
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
BMC Mol Biol
; 10: 78, 2009 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19650912
19.
Clinical relevance of nine transcriptional molecular markers for the diagnosis of head and neck squamous cell carcinoma in tissue and saliva rinse.
BMC Cancer
; 9: 370, 2009 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19835631
20.
Current and future molecular approaches in the diagnosis of cystic fibrosis.
Expert Rev Respir Med
; 12(5): 415-426, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29580110