Literature DB >> 29127627

Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.

Laine M Hosking1,2, Elizabeth G Bannister3,4, Matthew C Cook5, Sharon Choo6,7, Smitha Kumble8, Theresa S Cole6.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 29127627     DOI： 10.1007/s10875-017-0460-0

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


× No keyword cloud information.
  7 in total

1.  SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Authors:  Alexandre Fabre; Bernard Charroux; Christine Martinez-Vinson; Bertrand Roquelaure; Egritas Odul; Ersin Sayar; Hilary Smith; Virginie Colomb; Nicolas Andre; Jean-Pierre Hugot; Olivier Goulet; Caroline Lacoste; Jacques Sarles; Julien Royet; Nicolas Levy; Catherine Badens
Journal:  Am J Hum Genet       Date:  2012-03-22       Impact factor: 11.025

2.  Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

Authors:  Dorota M Monies; Zuhair Rahbeeni; Mohamed Abouelhoda; Ewa A Naim; Banan Al-Younes; Brian F Meyer; Ali Al-Mehaidib
Journal:  J Pediatr Gastroenterol Nutr       Date:  2015-03       Impact factor: 2.839

3.  Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.

Authors:  Alexandre Fabre; Anne Breton; Marie-Edith Coste; Virginie Colomb; Beatrice Dubern; Alain Lachaux; Julie Lemale; Julien Mancini; Evelyne Marinier; Christine Martinez-Vinson; Noel Peretti; Ariane Perry; Bertrand Roquelaure; Aude Venaille; Jacques Sarles; Olivier Goulet; Catherine Badens
Journal:  Arch Dis Child       Date:  2013-10-09       Impact factor: 3.791

4.  Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

Authors:  L Stankler; D Lloyd; R J Pollitt; E S Gray; H Thom; G Russell
Journal:  Arch Dis Child       Date:  1982-03       Impact factor: 3.791

5.  Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

Authors:  Nicholas L Rider; Bertrand Boisson; Soma Jyonouchi; Eric P Hanson; Sergio D Rosenzweig; Jean-Laurent Cassanova; Jordan S Orange
Journal:  Front Pediatr       Date:  2015-01-30       Impact factor: 3.418

6.  The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.

Authors:  Sterling C Eckard; Gillian I Rice; Alexandre Fabre; Catherine Badens; Elizabeth E Gray; Jane L Hartley; Yanick J Crow; Daniel B Stetson
Journal:  Nat Immunol       Date:  2014-07-27       Impact factor: 25.606

Review 7.  Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Authors:  Alexandre Fabre; Christine Martinez-Vinson; Olivier Goulet; Catherine Badens
Journal:  Orphanet J Rare Dis       Date:  2013-01-09       Impact factor: 4.123
  7 in total
  1 in total

1.  The mammalian SKIV2L RNA exosome is essential for early B cell development.

Authors:  Kun Yang; Jie Han; Jennifer G Gill; Jason Y Park; Meghana N Sathe; Jyothsna Gattineni; Tracey Wright; Christian Wysocki; M Teresa de la Morena; Nan Yan
Journal:  Sci Immunol       Date:  2022-06-03
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.