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Results: 1 to 20 of 261

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.

Nobili V, Di Giandomenico S, Francalanci P, Callea F, Marcellini M, Santorelli FM.

J Gastroenterol. 2006 Jun;41(6):598-603.

PMID:
16868810
[PubMed - indexed for MEDLINE]
4.

[Childhood cholestasis and bile transporters].

Hierro L, Jara P.

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

PMID:
16137474
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, Bordo D, Coviello DA.

Eur J Hum Genet. 2007 Dec;15(12):1230-8. Epub 2007 Aug 29.

PMID:
17726488
[PubMed - indexed for MEDLINE]
Free Article
7.

DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.

Shapiro R, Anikster Y, Yardeni T, Korem S, Hartman K, Shamir R, Broide E, Levine A, Bujanover Y, Bercovich D.

J Hum Genet. 2010 May;55(5):308-13. doi: 10.1038/jhg.2010.28. Epub 2010 Apr 23.

PMID:
20414253
[PubMed - indexed for MEDLINE]
8.

Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).

Lang T, Haberl M, Jung D, Drescher A, Schlagenhaufer R, Keil A, Mornhinweg E, Stieger B, Kullak-Ublick GA, Kerb R.

Drug Metab Dispos. 2006 Sep;34(9):1582-99. Epub 2006 Jun 8.

PMID:
16763017
[PubMed - indexed for MEDLINE]
Free Article
9.

Molecular basis of intrahepatic cholestasis.

Carlton VE, Pawlikowska L, Bull LN.

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

PMID:
15768832
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
Free Article
11.

[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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Progressive familial intrahepatic cholestasis. Genetic basis and treatment.

Jacquemin E.

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

PMID:
11232355
[PubMed - indexed for MEDLINE]
14.

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.

Pauli-Magnus C, Lang T, Meier Y, Zodan-Marin T, Jung D, Breymann C, Zimmermann R, Kenngott S, Beuers U, Reichel C, Kerb R, Penger A, Meier PJ, Kullak-Ublick GA.

Pharmacogenetics. 2004 Feb;14(2):91-102.

PMID:
15077010
[PubMed - indexed for MEDLINE]
15.

Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.

Harris MJ, Le Couteur DG, Arias IM.

J Gastroenterol Hepatol. 2005 Jun;20(6):807-17. Review.

PMID:
15946126
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, Scheffer GL, Paul M, Burdelski M, Bosma PJ, Bernard O, Hadchouel M, Elferink RP.

Gastroenterology. 2001 May;120(6):1448-58.

PMID:
11313315
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.

Poupon R, Barbu V, Chamouard P, Wendum D, Rosmorduc O, Housset C.

Liver Int. 2010 Feb;30(2):327-31. doi: 10.1111/j.1478-3231.2009.02148.x. Epub 2009 Oct 19.

PMID:
19840255
[PubMed - indexed for MEDLINE]

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