Detalhe da pesquisa
1.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
2.
Interleukin-15-dependent NKp46+ innate lymphoid cells control intestinal inflammation by recruiting inflammatory monocytes.
Immunity
; 37(1): 108-21, 2012 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22705105
3.
Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.
J Pediatr Gastroenterol Nutr
; 64(3): 378-384, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253662
4.
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.
Gastroenterology
; 156(4): 1206-1210.e1, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557559
5.
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
J Allergy Clin Immunol
; 134(5): 1131-41.e9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942515
6.
First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.
Gastroenterology
; 153(2): 609-611.e3, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28683258
7.
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy.
Gastroenterology
; 139(3): 770-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20537998
8.
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
Am J Gastroenterol
; 106(8): 1544-55, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21519361
9.
Copy number variations and founder effect underlying complete IL-10Rß deficiency in Portuguese kindreds.
PLoS One
; 13(10): e0205826, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365510
10.
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
EMBO Mol Med
; 10(4)2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567797
11.
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
J Crohns Colitis
; 12(9): 1104-1112, 2018 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29788237
12.
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.
J Crohns Colitis
; 15(3): 517-518, 2021 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895718
13.
Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group.
Inflamm Bowel Dis
; 19(13): 2820-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24216686
14.
Implication of TNF-related apoptosis-inducing ligand in inflammatory intestinal epithelial lesions.
Gastroenterology
; 130(7): 1962-74, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16762619
15.
In vitro and ex vivo activation of the TLR5 signaling pathway in intestinal epithelial cells by a commensal Escherichia coli strain.
J Biol Chem
; 279(41): 42984-92, 2004 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-15302888
16.
Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease.
Gastroenterology
; 125(3): 730-45, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12949719