Detalhe da pesquisa
1.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
2.
Growth development of children and adolescents with inflammatory bowel disease in the period 2000-2014 based on data of the Saxon pediatric IBD registry: a population-based study.
BMC Gastroenterol
; 24(1): 25, 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195453
3.
Human glycoprotein-2 expressed in Brunner glands - A putative autoimmune target and link between Crohn's and coeliac disease.
Clin Immunol
; 247: 109214, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608744
4.
Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Rheumatology (Oxford)
; 62(4): 1699-1705, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193988
5.
Anti-Proteinase 3 Antibodies as a Biomarker for Ulcerative Colitis and Primary Sclerosing Cholangitis in Children.
J Pediatr Gastroenterol Nutr
; 74(4): 463-470, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35703948
6.
[Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis]. / Chronische oder schwere Darmerkrankung und Immundefekt: Manchmal ist es doch ein Kolibri.
Z Gastroenterol
; 60(11): 1668-1677, 2022 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-35297030
7.
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Hum Genet
; 140(8): 1143-1156, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974130
8.
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Hum Mutat
; 41(1): 196-202, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498527
9.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
; 22(3): 610-621, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31761904
10.
Validation of Antibody-Based Strategies for Diagnosis of Pediatric Celiac Disease Without Biopsy.
Gastroenterology
; 153(2): 410-419.e17, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28461188
11.
Antibody Concentrations Decrease 14-Fold in Children With Celiac Disease on a Gluten-Free Diet but Remain High at 3 Months.
Clin Gastroenterol Hepatol
; 16(9): 1442-1449.e5, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654912
12.
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.
Am J Med Genet A
; 176(12): 2862-2866, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561130
13.
Duodenocolonic Fistula As A Rare Complication of Intestinal Burkitt Lymphoma in a Three-Year-Old Boy.
Klin Padiatr
; 230(3): 138-141, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618138
14.
Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
Klin Padiatr
; 229(3): 113-117, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561224
15.
Aktualisierte S2k-Leitlinie Zöliakie der Deutschen Gesellschaft für Gastroenterologie, Verdauungs- und Stoffwechselkrankheiten (DGVS).
Z Gastroenterol
; 60(5): 790-856, 2022 05.
Artigo
em Alemão
| MEDLINE | ID: mdl-35545109
16.
Serum biomarkers for the diagnosis and monitoring of chronic recurrent multifocal osteomyelitis (CRMO).
Rheumatol Int
; 36(6): 769-79, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27000045
17.
XIAP variants in male Crohn's disease.
Gut
; 64(1): 66-76, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24572142
18.
Effectiveness and safety of ferric carboxymaltose treatment in children and adolescents with inflammatory bowel disease and other gastrointestinal diseases.
BMC Gastroenterol
; 14: 184, 2014 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326048
19.
Crohn's disease specific pancreatic antibodies: clinical and pathophysiological challenges.
Clin Chem Lab Med
; 52(4): 483-94, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24231127
20.
Metamizole-induced agranulocytosis (MIA): a mini review.
Mol Cell Pediatr
; 10(1): 6, 2023 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589909