Detalhe da pesquisa
1.
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
Thorax
; 69(3): 254-60, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24149827
2.
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis.
Gastroenterology
; 140(1): 153-61, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20923678
3.
TLR5 as an anti-inflammatory target and modifier gene in cystic fibrosis.
J Immunol
; 185(12): 7731-8, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21068401
4.
Complex two-gene modulation of lung disease severity in children with cystic fibrosis.
J Clin Invest
; 118(3): 1040-9, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18292811
5.
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.
Hum Genet
; 126(6): 763-78, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19662435
6.
Genetic modifiers of liver disease in cystic fibrosis.
JAMA
; 302(10): 1076-83, 2009 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19738092
7.
Genetic modifiers of lung disease in cystic fibrosis.
N Engl J Med
; 353(14): 1443-53, 2005 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-16207846
8.
Distribution of CFTR mutations in Saguenay- Lac-Saint-Jean: proposal of a panel of mutations for population screening.
Genet Med
; 10(3): 201-6, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18344710
9.
Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
J Med Genet
; 44(5): 341-6, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17475917
10.
PhenCode: connecting ENCODE data with mutations and phenotype.
Hum Mutat
; 28(6): 554-62, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17326095
11.
Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function.
J Pediatr
; 151(3): 255-9, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17719933
12.
Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood.
Chest
; 126(4): 1215-24, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15486385
13.
Cystic fibrosis in Uruguay.
Genet Mol Res
; 1(1): 32-8, 2002 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-14963811
14.
Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?
Ann Am Thorac Soc
; 11(4): 562-70, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24697796
15.
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Nat Genet
; 45(10): 1160-7, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23974870
16.
Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease.
Chest
; 142(4): 996-1004, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22423042
17.
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Nat Genet
; 44(5): 562-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466613
18.
Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis.
Pediatr Pulmonol
; 46(4): 385-92, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20967843
19.
Evaluation of the disease liability of CFTR variants.
Methods Mol Biol
; 742: 355-72, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21547743
20.
A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies.
Pediatr Pulmonol
; 46(9): 857-69, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21462361