Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-28603918
2.
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Genet Med
; 17(10): 796-806, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25569440
3.
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
Inglês
| MEDLINE | ID: mdl-23381846
4.
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
Hum Mutat
; 33(11): 1557-65, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22678879
5.
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.
J Med Genet
; 48(3): 152-9, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20972246
6.
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Hum Mutat
; 32(8): 912-20, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21520337
7.
CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries.
Ann Hum Genet
; 74(5): 463-9, 2010 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20560922
8.
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
Thorax
; 65(6): 539-44, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20522854
9.
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Hum Mutat
; 30(7): 1093-103, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19462466
10.
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.
J Mol Diagn
; 10(6): 544-8, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18832460
11.
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.
J Mol Diagn
; 9(5): 582-8, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17975025
12.
Large genomic rearrangements in the CFTR gene contribute to CBAVD.
BMC Med Genet
; 8: 22, 2007 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-17448246
13.
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
Eur J Hum Genet
; 14(1): 85-93, 2006 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16251901
14.
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Eur J Hum Genet
; 24(4): 469-78, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26014425
15.
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
J Cyst Fibros
; 14(5): 646-53, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25797027
16.
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
BMC Med Genet
; 5: 19, 2004 Aug 02.
Artigo
Inglês
| MEDLINE | ID: mdl-15287992
17.
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
J Cyst Fibros
; 3(4): 265-72, 2004 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-15698946
18.
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Epigenetics
; 9(7): 1007-17, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24782114
19.
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.
Eur J Hum Genet
; 20(2): 180-4, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21847140
20.
Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.
Gene
; 500(2): 194-8, 2012 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22484595