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Items: 17

1.

Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report.

Mi XX, Li XG, Wang ZR, Lin L, Xu CH, Shi JP.

Diagn Pathol. 2017 Aug 16;12(1):61. doi: 10.1186/s13000-017-0647-y.

2.

Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease.

Jiang L, Fang P, Weemhoff JL, Apte U, Pritchard MT.

Biomed Res Int. 2016;2016:4918798. Epub 2016 Nov 7. Review.

3.

Polycystic liver disease presenting as pruritus.

Johnson DK, Panchili S, Kolasseri S, Mavali RT.

Ann Gastroenterol. 2014;27(1):76-78.

4.

Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

Hao X, Liu S, Dong Q, Zhang H, Zhao J, Su L.

PLoS One. 2014 Apr 7;9(4):e92661. doi: 10.1371/journal.pone.0092661. eCollection 2014.

5.

Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease.

Yoshihara D, Kugita M, Sasaki M, Horie S, Nakanishi K, Abe T, Aukema HM, Yamaguchi T, Nagao S.

PLoS One. 2013 Dec 6;8(12):e81480. doi: 10.1371/journal.pone.0081480. eCollection 2013.

6.

New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications.

Telega G, Cronin D, Avner ED.

Pediatr Transplant. 2013 Jun;17(4):328-35. doi: 10.1111/petr.12076. Epub 2013 Apr 17. Review.

7.

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T.

Gastroenterology. 2013 Jan;144(1):112-121.e2. doi: 10.1053/j.gastro.2012.09.056. Epub 2012 Oct 3.

8.

Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.

Srinath A, Shneider BL.

J Pediatr Gastroenterol Nutr. 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. Review.

9.

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Turkbey BI, Bryant J, Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA.

Mol Genet Metab. 2011 Dec;104(4):677-81. doi: 10.1016/j.ymgme.2011.09.001. Epub 2011 Sep 8.

10.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA.

Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22.

11.

Cyclic nucleotide signaling in polycystic kidney disease.

Wang X, Ward CJ, Harris PC, Torres VE.

Kidney Int. 2010 Jan;77(2):129-40. doi: 10.1038/ki.2009.438. Epub 2009 Nov 18.

12.

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA.

Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20.

13.

Liver and kidney disease in ciliopathies.

Gunay-Aygun M.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306. doi: 10.1002/ajmg.c.30225. Review.

14.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA.

J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.

15.

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.

Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA.

J Pediatr. 2009 Sep;155(3):386-92.e1. doi: 10.1016/j.jpeds.2009.03.045. Epub 2009 Jun 21.

16.

Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease.

Wang X, Harris PC, Somlo S, Batlle D, Torres VE.

Nephrol Dial Transplant. 2009 Feb;24(2):526-34. doi: 10.1093/ndt/gfn527. Epub 2008 Sep 30.

17.

Vasopressin antagonists in polycystic kidney disease.

Torres VE.

Semin Nephrol. 2008 May;28(3):306-17. doi: 10.1016/j.semnephrol.2008.03.003. Review.

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