Literature DB >> 20216097

Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.

Emmanuel Jacquemin1, Valérie Malan, Marlène Rio, Anne Davit-Spraul, Joseph Cohen, Pierre Landrieu, Olivier Bernard.   

Abstract

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Year:  2010        PMID： 20216097     DOI： 10.1097/MPG.0b013e3181cd2725

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


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  4 in total

1.  Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1.

Authors:  Emmanuel Gonzales; Anne Spraul; Emmanuel Jacquemin
Journal:  Eur J Hum Genet       Date:  2013-08-28       Impact factor: 4.246

2.  Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Authors:  Marion Almes; Anne Spraul; Mathias Ruiz; Muriel Girard; Bertrand Roquelaure; Nolwenn Laborde; Fréderic Gottrand; Anne Turquet; Thierry Lamireau; Alain Dabadie; Marjorie Bonneton; Alice Thebaut; Babara Rohmer; Florence Lacaille; Pierre Broué; Alexandre Fabre; Karine Mention-Mulliez; Jérôme Bouligand; Emmanuel Jacquemin; Emmanuel Gonzales
Journal:  Diagnostics (Basel)       Date:  2022-05-07

Review 3.  The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Authors:  Rebecca Jeyaraj; Kirsten McKay Bounford; Nicola Ruth; Carla Lloyd; Fiona MacDonald; Christian J Hendriksz; Ulrich Baumann; Paul Gissen; Deirdre Kelly
Journal:  Genes (Basel)       Date:  2021-11-21       Impact factor: 4.096

4.  Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study.

Authors:  Paula M Hertel; Kieran Hawthorne; Sehee Kim; Milton J Finegold; Benjamin L Shneider; James E Squires; Nitika A Gupta; Laura N Bull; Karen F Murray; Nanda Kerkar; Vicky L Ng; Jean P Molleston; Jorge A Bezerra; Kathleen M Loomes; Sarah A Taylor; Kathleen B Schwarz; Yumirle P Turmelle; Philip Rosenthal; John C Magee; Ronald J Sokol
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-10-01       Impact factor: 3.288
  4 in total

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