Literature DB >> 33591424

A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease.

Xiaomin Peng1, Yulan Lu2, Bingbing Wu2, Xinran Dong2, Wenbin Li3, Huijun Wang2, Ying Huang4, Wenhao Zhou5,6,7.   

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Year:  2021        PMID： 33591424     DOI： 10.1007/s10875-021-00973-0

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  7 in total

1.  Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Authors:  Zhiheng Huang; Kaiyue Peng; Xiaoqin Li; Ruiqin Zhao; Jieyu You; Xiuyong Cheng; Zhaoxia Wang; Ying Wang; Bingbing Wu; Huijun Wang; Huasong Zeng; Zhuowen Yu; Cuifang Zheng; Yuesheng Wang; Ying Huang
Journal:  Inflamm Bowel Dis       Date:  2017-04       Impact factor: 5.325

2.  Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.

Authors:  Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Nathalie Delphin; David Benezra; Stavit Shalev; Rivka Carmi; Josué Feingold; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet; Marc Jeanpierre
Journal:  Eur J Hum Genet       Date:  2007-08-08       Impact factor: 4.246

3.  Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Authors:  Ahmad N Abou Tayoun; Tina Pesaran; Marina T DiStefano; Andrea Oza; Heidi L Rehm; Leslie G Biesecker; Steven M Harrison
Journal:  Hum Mutat       Date:  2018-09-07       Impact factor: 4.878

4.  A Synonymous Variant in IL10RA Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease.

Authors:  Seak Hee Oh; Jiwon Baek; Herty Liany; Jia Nee Foo; Kyung Mo Kim; Stephen Chang-Oh Yang; Jianjun Liu; Kyuyoung Song
Journal:  J Crohns Colitis       Date:  2016-05-13       Impact factor: 9.071

5.  Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

Authors:  Dhaarini Murugan; Michael H Albert; Jörg Langemeier; Jens Bohne; Jacek Puchalka; Päivi M Järvinen; Fabian Hauck; Anne K Klenk; Christine Prell; Stephanie Schatz; Jana Diestelhorst; Barbara Sciskala; Naschla Kohistani; Bernd H Belohradsky; Susanna Müller; Thomas Kirchner; Mark R Walter; Philip Bufler; Aleixo M Muise; Scott B Snapper; Sibylle Koletzko; Christoph Klein; Daniel Kotlarz
Journal:  J Clin Immunol       Date:  2014-02-12       Impact factor: 8.317

6.  Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.

Authors:  Huijun Wang; Yulan Lu; Xinran Dong; Guoping Lu; Guoqiang Cheng; Yanyan Qian; Qi Ni; Ping Zhang; Lin Yang; Bingbing Wu; Wenhao Zhou
Journal:  Hum Genet       Date:  2020-01-21       Impact factor: 4.132

Review 7.  The diagnostic approach to monogenic very early onset inflammatory bowel disease.

Authors:  Holm H Uhlig; Tobias Schwerd; Sibylle Koletzko; Neil Shah; Jochen Kammermeier; Abdul Elkadri; Jodie Ouahed; David C Wilson; Simon P Travis; Dan Turner; Christoph Klein; Scott B Snapper; Aleixo M Muise
Journal:  Gastroenterology       Date:  2014-07-21       Impact factor: 33.883
  7 in total

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