These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 23033845)

  • 1. Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.
    Copeland E; Renault N; Renault M; Dyack S; Bulman DE; Bedard K; Otley A; Magee F; Acott P; Greer WL
    J Gastroenterol Hepatol; 2013 Mar; 28(3):560-4. PubMed ID: 23033845
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prenatal molecular diagnosis of inherited cholestatic diseases.
    Jung C; Driancourt C; Baussan C; Zater M; Hadchouel M; Meunier-Rotival M; Guiochon-Mantel A; Jacquemin E
    J Pediatr Gastroenterol Nutr; 2007 Apr; 44(4):453-8. PubMed ID: 17414143
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 20414253
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation.
    Demeilliers C; Jacquemin E; Barbu V; Mergey M; Paye F; Fouassier L; Chignard N; Housset C; Lomri NE
    Hepatology; 2006 May; 43(5):1125-34. PubMed ID: 16628629
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1.
    Walkowiak J; Jankowska I; Pawlowska J; Bull L; Herzig KH; Socha J
    Scand J Gastroenterol; 2006 Dec; 41(12):1480-3. PubMed ID: 17101580
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 17241866
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
    Folmer DE; van der Mark VA; Ho-Mok KS; Oude Elferink RP; Paulusma CC
    Hepatology; 2009 Nov; 50(5):1597-605. PubMed ID: 19731236
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
    Painter JN; Savander M; Ropponen A; Nupponen N; Riikonen S; Ylikorkala O; Lehesjoki AE; Aittomäki K
    Eur J Hum Genet; 2005 Apr; 13(4):435-9. PubMed ID: 15657619
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
    Yang Y; Zhang J; Li LT; Qiu YL; Gong JY; Zhang MH; Li CH; Wang JS
    J Mol Diagn; 2021 Nov; 23(11):1491-1499. PubMed ID: 34543749
    [TBL] [Abstract][Full Text] [Related]  

  • 10. FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
    van Mil SW; Klomp LW; Bull LN; Houwen RH
    Semin Liver Dis; 2001 Nov; 21(4):535-44. PubMed ID: 11745041
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
    van der Velden LM; Stapelbroek JM; Krieger E; van den Berghe PV; Berger R; Verhulst PM; Holthuis JC; Houwen RH; Klomp LW; van de Graaf SF
    Hepatology; 2010 Jan; 51(1):286-96. PubMed ID: 19918981
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
    Müllenbach R; Bennett A; Tetlow N; Patel N; Hamilton G; Cheng F; Chambers J; Howard R; Taylor-Robinson SD; Williamson C
    Gut; 2005 Jun; 54(6):829-34. PubMed ID: 15888793
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I].
    Cheng Y; Guo L; Song YZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Aug; 18(8):751-6. PubMed ID: 27530795
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.
    Miyagawa-Hayashino A; Egawa H; Yorifuji T; Hasegawa M; Haga H; Tsuruyama T; Wen MC; Sumazaki R; Manabe T; Uemoto S
    Liver Transpl; 2009 Jun; 15(6):610-8. PubMed ID: 19479804
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
    Sharma A; Poddar U; Agnihotry S; Aggarwal R
    Indian Pediatr; 2016 Dec; 53(12):1099-1101. PubMed ID: 28064265
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1.
    Numakura C; Abukawa D; Kimura T; Tanabe S; Hayasaka K
    Pediatr Int; 2011 Feb; 53(1):107-10. PubMed ID: 21342337
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
    Deng BC; Lv S; Cui W; Zhao R; Lu X; Wu J; Liu P
    World J Gastroenterol; 2012 Nov; 18(44):6504-9. PubMed ID: 23197899
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 9500542
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mining the idiopathic genetic cholestasis syndrome.
    Chen HL
    J Gastroenterol Hepatol; 2013 Mar; 28(3):389-91. PubMed ID: 23441719
    [No Abstract]   [Full Text] [Related]  

  • 20. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
    Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.