Detalhe da pesquisa
1.
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
Hepatology
; 79(6): 1279-1292, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38146932
2.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Hepatology
; 77(2): 512-529, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036223
3.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751037
4.
Dynamic Contrast Magnetic Resonance Lymphangiography Localizes Lymphatic Leak to the Duodenum in Protein-Losing Enteropathy.
J Pediatr Gastroenterol Nutr
; 74(1): 38-45, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34406998
5.
A regional effort: the current landscape of inguinal hernia repair and postoperative opioid prescription practices in Eastern Ontario.
Can J Surg
; 65(5): E622-E624, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130808
6.
Evaluating the biocontrol potential of Canadian strain Bacillus velezensis 1B-23 via its surfactin production at various pHs and temperatures.
BMC Biotechnol
; 21(1): 31, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33926450
7.
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Genet Med
; 23(2): 323-330, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077891
8.
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
Am J Med Genet A
; 185(3): 719-731, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369123
9.
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Hum Mutat
; 41(5): 973-982, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944481
10.
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Hum Mutat
; 40(12): 2197-2220, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343788
11.
Intrahepatic dynamic contrast MR lymphangiography: initial experience with a new technique for the assessment of liver lymphatics.
Eur Radiol
; 29(10): 5190-5196, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887210
12.
Recommendations for Diagnosis and Management of Autoimmune Pancreatitis in Childhood: Consensus From INSPPIRE.
J Pediatr Gastroenterol Nutr
; 67(2): 232-236, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29746340
13.
Autoimmune Pancreatitis in Children: Characteristic Features, Diagnosis, and Management.
Am J Gastroenterol
; 112(10): 1604-1611, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374818
14.
Diet in the pathogenesis and treatment of inflammatory bowel diseases.
Gastroenterology
; 148(6): 1087-106, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597840
15.
Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.
Gastroenterology
; 149(6): 1415-24, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26193622
16.
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
Am J Med Genet A
; 170(3): 750-3, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26697755
17.
Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome.
Liver Int
; 36(5): 755-60, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26201540
18.
Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization.
J Pediatr
; 166(2): 470-3, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25465847
19.
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
BMC Gastroenterol
; 15: 160, 2015 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581487
20.
NOTCH2 mutations in Alagille syndrome.
J Med Genet
; 49(2): 138-44, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209762