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Items: 1 to 20 of 136

1.

Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.

Giovannoni I, Santorelli FM, Candusso M, Di Rocco M, Bellacchio E, Callea F, Francalanci P.

Dig Liver Dis. 2011 Jul;43(7):567-70. doi: 10.1016/j.dld.2011.03.004. Epub 2011 Apr 21.

PMID:
21514256
2.

ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.

Liu LY, Wang ZL, Wang XH, Zhu QR, Wang JS.

Liver Int. 2010 Jul;30(6):809-15. doi: 10.1111/j.1478-3231.2009.02112.x. Epub 2009 Oct 21.

PMID:
19845854
3.

Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect?

Chen HL, Chang PS, Hsu HC, Lee JH, Ni YH, Hsu HY, Jeng YM, Chang MH.

Pediatr Res. 2001 Jul;50(1):50-5.

PMID:
11420418
4.

ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, Scheffer GL, Bennouna S, Trinchet JC, Beaugrand M, Ganne-Carrié N.

Gastroenterology. 2008 Jul;135(1):131-41. doi: 10.1053/j.gastro.2008.03.044. Epub 2008 Mar 26. Erratum in: Gastroenterology. 2008 Oct;135(4):1429.

PMID:
18482588
5.

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
6.

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

de Vree JM, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RP, Hadchouel M.

Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):282-7.

7.

Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy.

Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, Montagnani M, Marchesoni D, Variola A, Rosa Rizzotto E, Braghin C, Mazzella G.

Dig Liver Dis. 2008 May;40(5):366-70. Epub 2007 Dec 20.

PMID:
18083082
8.

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
9.

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
10.

Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis.

Goto K, Sugiyama K, Sugiura T, Ando T, Mizutani F, Terabe K, Ban K, Togari H.

J Pediatr Gastroenterol Nutr. 2003 May;36(5):647-50.

PMID:
12717091
11.

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nelson-Piercy C, de Swiet M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C.

Hum Mol Genet. 2000 May 1;9(8):1209-17.

12.

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

Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M.

Gastroenterology. 1999 Dec;117(6):1370-9.

PMID:
10579978
13.

Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.

Sun HZ, Shi H, Zhang SC, Shen XZ.

World J Gastroenterol. 2015 Jan 14;21(2):699-703. doi: 10.3748/wjg.v21.i2.699.

14.

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.

15.

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
16.

The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3.

Dzagania T, Engelmann G, Häussinger D, Schmitt L, Flechtenmacher C, Rtskhiladze I, Kubitz R.

Gene. 2012 Sep 10;506(1):141-5. doi: 10.1016/j.gene.2012.06.029. Epub 2012 Jul 3.

PMID:
22766396
17.

Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.

Evason K, Bove KE, Finegold MJ, Knisely AS, Rhee S, Rosenthal P, Miethke AG, Karpen SJ, Ferrell LD, Kim GE.

Am J Surg Pathol. 2011 May;35(5):687-96. doi: 10.1097/PAS.0b013e318212ec87.

18.

Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump.

Kubitz R, Keitel V, Scheuring S, Köhrer K, Häussinger D.

J Clin Gastroenterol. 2006 Feb;40(2):171-5.

PMID:
16394881
19.

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
20.

ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.

Anzivino C, Odoardi MR, Meschiari E, Baldelli E, Facchinetti F, Neri I, Ruggiero G, Zampino R, Bertolotti M, Loria P, Carulli L.

Dig Liver Dis. 2013 Mar;45(3):226-32. doi: 10.1016/j.dld.2012.08.011. Epub 2012 Sep 27.

PMID:
23022423
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