Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea-Reference-Cited by-同舟云学术

Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea

Published:2020-05-29 Issue:3 Volume:71 Page:333-339
ISSN:0277-2116
Container-title:Journal of Pediatric Gastroenterology & Nutrition
language:en
Short-container-title:

Author:

Uchida Takashi,Suzuki Tasuku,Kikuchi Atsuo,Kakuta Fumihiko,Ishige Takashi,Nakayama Yoshiko,Kanegane Hirokazu,Etani Yuri,Mizuochi Tatsuki,Fujiwara Shin-ichi,Nambu Ryusuke,Suyama Kazuhide,Tanaka Masanori,Yoden Atsushi,Abukawa Daiki,Sasahara Yoji,Kure Shigeo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Gastroenterology,Pediatrics, Perinatology and Child Health

Reference45 articles.

1. Advances in evaluation of chronic diarrhea in infants;Thiagarajah;Gastroenterology,2018

2. Inflammatory bowel disease in children and adolescents;Rosen;JAMA Pediatr,2015

3. Protein-losing enteropathy;Proujansky;Pediatric Gastrointestinal Disease,2004

4. The diagnostic approach to monogenic very early onset inflammatory bowel disease;Uhlig;Gastroenterology,2014

5. Genetics of inflammatory bowel disease from multifactorial to monogenic forms;Bianco;World J Gastroenterol,2015

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases;International Journal of Molecular Sciences;2024-07-29

2. Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort;Clinical and Experimental Immunology;2024-04-23

3. A20 Haploinsufficiency: A Systematic Review of 177 Cases;Journal of Investigative Dermatology;2023-12

4. Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity;Journal of Experimental Medicine;2023-06-05

5. Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition;The Lancet Gastroenterology & Hepatology;2023-03