Detalhe da pesquisa
1.
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Hepatology
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536042
2.
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
Am J Respir Crit Care Med
; 197(1): 79-93, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28853905
3.
Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
BMC Pediatr
; 19(1): 369, 2019 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31640630
4.
A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways.
Am J Hum Genet
; 97(1): 125-38, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26140448
5.
In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
PLoS Genet
; 11(6): e1005288, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26057580
6.
Features of Severe Liver Disease With Portal Hypertension in Patients With Cystic Fibrosis.
Clin Gastroenterol Hepatol
; 14(8): 1207-1215.e3, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27062904
7.
Direct Costs of Acute Recurrent and Chronic Pancreatitis in Children in the INSPPIRE Registry.
J Pediatr Gastroenterol Nutr
; 62(3): 443-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26704866
8.
Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis.
J Pediatr
; 166(5): 1152-1157.e6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25771386
9.
Pediatric chronic pancreatitis is associated with genetic risk factors and substantial disease burden.
J Pediatr
; 166(4): 890-896.e1, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25556020
10.
Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.
PLoS Genet
; 8(3): e1002580, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22438829
11.
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Blood
; 129(11): 1557-1562, 2017 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062395
12.
Design and implementation of INSPPIRE.
J Pediatr Gastroenterol Nutr
; 59(3): 360-4, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24824361
13.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nat Genet
; 37(12): 1345-50, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16311597
14.
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.
N Engl J Med
; 363(21): 1991-2003, 2010 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21083385
15.
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Gastroenterology
; 143(2): 481-92, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22510201
16.
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Nat Genet
; 33(1): 97-101, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12496757
17.
Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?
Thorax
; 67(7): 618-24, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22504961
18.
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.
Thorax
; 67(1): 12-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21825083
19.
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
20.
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