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Items: 1 to 20 of 153

1.

Molecular basis of intrahepatic cholestasis.

Carlton VE, Pawlikowska L, Bull LN.

Ann Med. 2004;36(8):606-17. Review.

PMID:
15768832
2.

Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.

Colombo C, Okolicsanyi L, Strazzabosco M.

Dig Liver Dis. 2000 Mar;32(2):152-9. Review.

PMID:
10975791
3.

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.

Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, Bezerra JA.

Gastroenterology. 2007 Jan;132(1):119-26. Epub 2006 Oct 21.

4.

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH.

Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. Review.

PMID:
20955958
5.

Progressive familial intrahepatic cholestasis.

Jacquemin E.

Clin Res Hepatol Gastroenterol. 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9. Review.

PMID:
23141890
6.

Molecular basis of cholestatic diseases of surgical interest.

Alvarez L, Jara P, Hierro L, Sánchez-Sabaté E, Martínez-Fernández P, López-Santamaría M.

Semin Pediatr Surg. 2005 Nov;14(4):200-5. Review.

PMID:
16226694
7.

[Liver disease associated with hereditary defects of hepatobiliary transporters].

Wendum D.

Ann Pathol. 2010 Dec;30(6):426-31. doi: 10.1016/j.annpat.2010.08.025. Epub 2010 Nov 11. Review. French.

PMID:
21167428
8.

Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.

Kubitz R, Dröge C, Kluge S, Stross C, Walter N, Keitel V, Häussinger D, Stindt J.

Clin Rev Allergy Immunol. 2015 Jun;48(2-3):273-84. doi: 10.1007/s12016-014-8457-4. Review.

PMID:
25342496
9.

Analysis of gene mutations in children with cholestasis of undefined etiology.

Matte U, Mourya R, Miethke A, Liu C, Kauffmann G, Moyer K, Zhang K, Bezerra JA.

J Pediatr Gastroenterol Nutr. 2010 Oct;51(4):488-493. doi: 10.1097/MPG.0b013e3181dffe8f.

10.

NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.

Davit-Spraul A, Gonzales E, Jacquemin E.

Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):569-73. doi: 10.1016/j.clinre.2012.08.008. Epub 2012 Nov 9.

PMID:
23142591
11.

Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.

Alvarez L, Jara P, Sánchez-Sabaté E, Hierro L, Larrauri J, Díaz MC, Camarena C, De la Vega A, Frauca E, López-Collazo E, Lapunzina P.

Hum Mol Genet. 2004 Oct 15;13(20):2451-60. Epub 2004 Aug 18.

PMID:
15317749
12.

[Childhood cholestasis and bile transporters].

Hierro L, Jara P.

Gastroenterol Hepatol. 2005 Aug-Sep;28(7):388-95. Review. Spanish.

PMID:
16137474
13.

Genetic cholestasis, causes and consequences for hepatobiliary transport.

Jansen PL, Sturm E.

Liver Int. 2003 Oct;23(5):315-22. Review.

PMID:
14708891
14.

Progressive familial intrahepatic cholestasis. Genetic basis and treatment.

Jacquemin E.

Clin Liver Dis. 2000 Nov;4(4):753-63. Review.

PMID:
11232355
15.

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P.

PLoS One. 2015 Dec 17;10(12):e0145021. doi: 10.1371/journal.pone.0145021. eCollection 2015.

16.

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E.

Hepatology. 2010 May;51(5):1645-55. doi: 10.1002/hep.23539.

PMID:
20232290
17.

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

Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN.

J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13.

18.

Progressive familial intrahepatic cholestasis.

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E.

Orphanet J Rare Dis. 2009 Jan 8;4:1. doi: 10.1186/1750-1172-4-1. Review.

19.

Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings.

Morotti RA, Suchy FJ, Magid MS.

Semin Liver Dis. 2011 Feb;31(1):3-10. doi: 10.1055/s-0031-1272831. Epub 2011 Feb 22. Review.

PMID:
21344347
20.

Update on progressive familial intrahepatic cholestasis.

Alissa FT, Jaffe R, Shneider BL.

J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):241-52. doi: 10.1097/MPG.0b013e3181596060. Review.

PMID:
18376240

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