Literature DB >> 23982689

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2.

Emmanuel Gonzales1, Anne Spraul2, Emmanuel Jacquemin1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23982689      PMCID： PMC3953913          DOI： 10.1038/ejhg.2013.187

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  20 in total

1.  Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Authors:  Ludmila Pawlikowska; Sandra Strautnieks; Irena Jankowska; Piotr Czubkowski; Karan Emerick; Anthony Antoniou; Catherine Wanty; Bjorn Fischler; Emmanuel Jacquemin; Sami Wali; Samra Blanchard; Inge-Merete Nielsen; Billy Bourke; Shirley McQuaid; Florence Lacaille; Jane A Byrne; Albertien M van Eerde; Kaija-Leena Kolho; Leo Klomp; Roderick Houwen; Peter Bacchetti; Steven Lobritto; Vera Hupertz; Patricia McClean; Giorgina Mieli-Vergani; Benjamin Shneider; Antal Nemeth; Etienne Sokal; Nelson B Freimer; A S Knisely; Philip Rosenthal; Peter F Whitington; Joanna Pawlowska; Richard J Thompson; Laura N Bull
Journal:  J Hepatol       Date:  2010-04-13       Impact factor: 25.083

2.  Intrahepatic cholestasis: summary of an American Association for the Study of Liver Diseases single-topic conference.

Authors:  William F Balistreri; Jorge A Bezerra; Peter Jansen; Saul J Karpen; Benjamin L Shneider; Frederick J Suchy
Journal:  Hepatology       Date:  2005-07       Impact factor: 17.425

3.  Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis.

Authors:  Bogdan Hermeziu; Damien Sanlaville; Muriel Girard; Claude Léonard; Stanislas Lyonnet; Emmanuel Jacquemin
Journal:  J Pediatr Gastroenterol Nutr       Date:  2006-01       Impact factor: 2.839

4.  Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

Authors:  P L Jansen; S S Strautnieks; E Jacquemin; M Hadchouel; E M Sokal; G J Hooiveld; J H Koning; A De Jager-Krikken; F Kuipers; F Stellaard; C M Bijleveld; A Gouw; H Van Goor; R J Thompson; M Müller
Journal:  Gastroenterology       Date:  1999-12       Impact factor: 22.682

Review 5.  Genetic determinants of drug-induced cholestasis and intrahepatic cholestasis of pregnancy.

Authors:  Christiane Pauli-Magnus; Peter J Meier; Bruno Stieger
Journal:  Semin Liver Dis       Date:  2010-04-26       Impact factor: 6.115

6.  A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

Authors:  S S Strautnieks; L N Bull; A S Knisely; S A Kocoshis; N Dahl; H Arnell; E Sokal; K Dahan; S Childs; V Ling; M S Tanner; A F Kagalwalla; A Németh; J Pawlowska; A Baker; G Mieli-Vergani; N B Freimer; R M Gardiner; R J Thompson
Journal:  Nat Genet       Date:  1998-11       Impact factor: 38.330

7.  De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis.

Authors:  Verena Keitel; Martin Burdelski; Zsuzsanna Vojnisek; Lutz Schmitt; Dieter Häussinger; Ralf Kubitz
Journal:  Hepatology       Date:  2009-08       Impact factor: 17.425

8.  Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.

Authors:  Saskia W C van Mil; Wendy L van der Woerd; Gerda van der Brugge; Ekkehard Sturm; Peter L M Jansen; Laura N Bull; Inge E T van den Berg; Ruud Berger; Roderick H J Houwen; Leo W J Klomp
Journal:  Gastroenterology       Date:  2004-08       Impact factor: 22.682

9.  Recurrence of bile salt export pump deficiency after liver transplantation.

Authors:  Paloma Jara; Loreto Hierro; Pilar Martínez-Fernández; Rita Alvarez-Doforno; Francisca Yánez; María C Diaz; Carmen Camarena; Angela De la Vega; Esteban Frauca; Gema Muñoz-Bartolo; Manuel López-Santamaría; Javier Larrauri; Luis Alvarez
Journal:  N Engl J Med       Date:  2009-10-01       Impact factor: 91.245

Review 10.  Progressive familial intrahepatic cholestasis.

Authors:  Anne Davit-Spraul; Emmanuel Gonzales; Christiane Baussan; Emmanuel Jacquemin
Journal:  Orphanet J Rare Dis       Date:  2009-01-08       Impact factor: 4.123
View more
  2 in total

1.  Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases.

Authors:  Jung-Man Namgoong; Shin Hwang; Hyunhee Kwon; Suhyeon Ha; Kyung Mo Kim; Seak Hee Oh; Seung-Mo Hong
Journal:  Ann Hepatobiliary Pancreat Surg       Date:  2022-02-28

Review 2.  Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders.

Authors:  Mahsa Ghasemzad; Mahdieh Hashemi; Zohre Miri Lavasani; Nikoo Hossein-Khannazer; Haleh Bakhshandeh; Roberto Gramignoli; Hani Keshavarz Alikhani; Mustapha Najimi; Saman Nikeghbalian; Massoud Vosough
Journal:  Bioengineering (Basel)       Date:  2022-08-15
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.