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Items: 10

1.

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN.

Hepatology. 2004 Jul;40(1):27-38.

PMID:
15239083
2.

The N-terminus of the human copper transporter 1 (hCTR1) is localized extracellularly, and interacts with itself.

Klomp AE, Juijn JA, van der Gun LT, van den Berg IE, Berger R, Klomp LW.

Biochem J. 2003 Mar 15;370(Pt 3):881-9.

3.

FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte.

Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, Berger R, Houwen RH, Klomp LW.

J Hepatol. 2001 Oct;35(4):436-43.

PMID:
11682026
4.

A missense mutation in FIC1 is associated with greenland familial cholestasis.

Klomp LW, Bull LN, Knisely AS, van Der Doelen MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH.

Hepatology. 2000 Dec;32(6):1337-41.

PMID:
11093741
5.

[Recurrent familial intrahepatic cholestasis in the Faroe Islands].

Steig B, Juijn JA, Bull LN, Houwen RH, Tygstrup N.

Ugeskr Laeger. 1999 Aug 30;161(35):4871-4. Danish.

PMID:
10778315
6.

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, DeYoung JA, Carlton VE, Baharloo S, Klomp LW, Abukawa D, Barton DE, Bass NM, Bourke B, Drumm B, Jankowska I, Lovisetto P, McQuaid S, Pawlowska J, Tazawa Y, Villa E, Tygstrup N, Berger R, Knisely AS, Freimer NB, et al.

Hum Genet. 1999 Mar;104(3):241-8. Erratum in: Hum Genet 1999 Jun;104(6):528.

PMID:
10323248
7.

Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.

Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH.

Hepatology. 1999 Feb;29(2):506-8.

PMID:
9918928
8.

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB.

Nat Genet. 1998 Mar;18(3):219-24.

PMID:
9500542
9.

Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.

Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH.

Hum Genet. 1997 Sep;100(3-4):382-7.

PMID:
9272159
10.

Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines.

Kool M, de Haas M, Scheffer GL, Scheper RJ, van Eijk MJ, Juijn JA, Baas F, Borst P.

Cancer Res. 1997 Aug 15;57(16):3537-47.

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