Literature DB >> 25383784

A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation in Tufting Enteropathy.

Valentina Shakhnovich1, Darrell Dinwiddie, Amber Hildreth, Thomas Attard, Stephen Kingsmore.   

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Year:  2017        PMID： 25383784      PMCID： PMC4426084          DOI： 10.1097/MPG.0000000000000629

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  7 in total

1.  Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Authors:  Darrell L Dinwiddie; Julia M Bracken; Julie A Bass; Kathy Christenson; Sarah E Soden; Carol J Saunders; Neil A Miller; Vivekanand Singh; David L Zwick; Charles C Roberts; Jignesh Dalal; Stephen F Kingsmore
Journal:  Genomics       Date:  2013-08-31       Impact factor: 5.736

2.  Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants.

Authors:  R M Reifen; E Cutz; A M Griffiths; B Y Ngan; P M Sherman
Journal:  J Pediatr Gastroenterol Nutr       Date:  1994-04       Impact factor: 2.839

3.  Intractable diarrhea with tufting enteropathy: a favorable outcome is possible.

Authors:  Julie Lemale; Aurore Coulomb; Béatrice Dubern; Sabah Boudjemaa; Sheila Viola; Patrice Josset; Patrick Tounian; Jean-Philippe Girardet
Journal:  J Pediatr Gastroenterol Nutr       Date:  2011-06       Impact factor: 2.839

Review 4.  Neonatal enteropathies: defining the causes of protracted diarrhea of infancy.

Authors:  Philip M Sherman; David J Mitchell; Ernest Cutz
Journal:  J Pediatr Gastroenterol Nutr       Date:  2004-01       Impact factor: 2.839

5.  Identification of EpCAM as the gene for congenital tufting enteropathy.

Authors:  Mamata Sivagnanam; James L Mueller; Hane Lee; Zugen Chen; Stanley F Nelson; Dan Turner; Stanley H Zlotkin; Paul B Pencharz; Bo-Yee Ngan; Ondrej Libiger; Nicholas J Schork; Joel E Lavine; Sharon Taylor; Robert O Newbury; Richard D Kolodner; Hal M Hoffman
Journal:  Gastroenterology       Date:  2008-05-15       Impact factor: 22.682

6.  Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation.

Authors:  Mamata Sivagnanam; James L Mueller; Reka Szigeti; G S Gopalakrishna; Richard Kellermayer
Journal:  Case Rep Med       Date:  2012-09-09

7.  Integrative genomics viewer.

Authors:  James T Robinson; Helga Thorvaldsdóttir; Wendy Winckler; Mitchell Guttman; Eric S Lander; Gad Getz; Jill P Mesirov
Journal:  Nat Biotechnol       Date:  2011-01       Impact factor: 54.908
  7 in total
  1 in total

1.  EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Authors:  Sagar J Pathak; James L Mueller; Kevin Okamoto; Barun Das; Jozef Hertecant; Lynn Greenhalgh; Trevor Cole; Vered Pinsk; Baruch Yerushalmi; Odul E Gurkan; Michael Yourshaw; Erick Hernandez; Sandy Oesterreicher; Sandhia Naik; Ian R Sanderson; Irene Axelsson; Daniel Agardh; C Richard Boland; Martin G Martin; Christopher D Putnam; Mamata Sivagnanam
Journal:  Hum Mutat       Date:  2018-11-29       Impact factor: 4.878
  1 in total

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