[HTML][HTML] Prevalence and clinical features of inflammatory bowel diseases associated with monogenic variants, identified by whole-exome sequencing in 1000 children …

E Crowley, N Warner, J Pan, S Khalouei, A Elkadri… - Gastroenterology, 2020 - Elsevier
Background & Aims A proportion of infants and young children with inflammatory bowel
diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We …

Identification of variants in genes associated with single-gene inflammatory bowel disease by whole-exome sequencing

JJ Ashton, G Andreoletti, T Coelho… - Inflammatory bowel …, 2016 - academic.oup.com
Background Most cases of inflammatory bowel disease (IBD) are caused by complex host–
environment interaction. There are a number of conditions associated with a single-gene …

Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of …

HH Uhlig, F Charbit-Henrion, D Kotlarz… - Journal of pediatric …, 2021 - journals.lww.com
Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years

J Kammermeier, R Dziubak, M Pescarin… - Journal of Crohn's …, 2017 - academic.oup.com
Objectives: Inflammatory bowel disease [IBD] presenting in early childhood is extremely
rare. More recently, progress has been made to identify children with monogenic forms of …

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

K Christodoulou, AE Wiskin, J Gibson, W Tapper… - Gut, 2013 - gut.bmj.com
Background Multiple genes have been implicated by association studies in altering
inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more …

[HTML][HTML] Genetic sequencing of pediatric patients identifies mutations in monogenic inflammatory bowel disease genes that translate to distinct clinical phenotypes

JJ Ashton, E Mossotto, IS Stafford… - Clinical and …, 2020 - journals.lww.com
OBJECTIVES: Monogenic inflammatory bowel disease (IBD) comprises rare Mendelian
causes of gut inflammation, often presenting in infants with severe and atypical disease. This …

[HTML][HTML] A systematic review of monogenic inflammatory bowel disease

R Nambu, N Warner, DJ Mulder, D Kotlarz… - Clinical …, 2022 - Elsevier
Background and aims Advances in genomic technologies have led to increasing reports of
monogenic inflammatory bowel disease (IBD). However, there has not been a detailed …

Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a ten-year multicentric experience

S Lega, A Pin, S Arrigo, C Cifaldi… - Inflammatory bowel …, 2020 - academic.oup.com
Background and aims Multiple monogenic disorders present as very early onset
inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features …

Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease

DT Okou, K Mondal, WA Faubion… - Journal of pediatric …, 2014 - journals.lww.com
Objectives: Inflammatory bowel disease (IBD) is heritable, but a total of 163 variants
commonly implicated in IBD pathogenesis account for only 25% of the heritability. Rare …

[HTML][HTML] Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China

YH Fang, YY Luo, JD Yu, JG Lou… - World Journal of …, 2018 - ncbi.nlm.nih.gov
AIM To analyze clinical differences between monogenic and nonmonogenic very-early-
onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD …