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Items: 1 to 20 of 35

1.

Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease.

Ebner K, Schaefer F, Liebau MC; ARegPKD Consortium..

Front Pediatr. 2017 Feb 16;5:18. doi: 10.3389/fped.2017.00018. eCollection 2017.

2.

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

Obeidova L, Seeman T, Elisakova V, Reiterova J, Puchmajerova A, Stekrova J.

BMC Med Genet. 2015 Dec 22;16:116. doi: 10.1186/s12881-015-0261-3.

3.

Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment.

Götze T, Blessing H, Grillhösl C, Gerner P, Hoerning A.

Front Pediatr. 2015 Jun 17;3:43. doi: 10.3389/fped.2015.00043. eCollection 2015. Review.

4.

Rationale, design and objectives of ARegPKD, a European ARPKD registry study.

Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group.; GPN Study Group..

BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z.

5.

Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene.

Drögemüller M, Jagannathan V, Welle MM, Graubner C, Straub R, Gerber V, Burger D, Signer-Hasler H, Poncet PA, Klopfenstein S, von Niederhäusern R, Tetens J, Thaller G, Rieder S, Drögemüller C, Leeb T.

PLoS One. 2014 Oct 8;9(10):e110125. doi: 10.1371/journal.pone.0110125. eCollection 2014.

6.

Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.

Hartung EA, Guay-Woodford LM.

Pediatrics. 2014 Sep;134(3):e833-45. doi: 10.1542/peds.2013-3646. Epub 2014 Aug 11. Review.

7.

Transcriptional complexity in autosomal recessive polycystic kidney disease.

Frank V, Zerres K, Bergmann C.

Clin J Am Soc Nephrol. 2014 Oct 7;9(10):1729-36. doi: 10.2215/CJN.00920114. Epub 2014 Aug 7.

8.

Tissue-specific regulation of the mouse Pkhd1 (ARPKD) gene promoter.

Williams SS, Cobo-Stark P, Hajarnis S, Aboudehen K, Shao X, Richardson JA, Patel V, Igarashi P.

Am J Physiol Renal Physiol. 2014 Aug 1;307(3):F356-68. doi: 10.1152/ajprenal.00422.2013. Epub 2014 Jun 4.

9.

Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.

Harris PC, Torres VE.

J Clin Invest. 2014 Jun;124(6):2315-24. doi: 10.1172/JCI72272. Epub 2014 Jun 2. Review.

10.

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.

Bergmann C.

Pediatr Nephrol. 2015 Jan;30(1):15-30. doi: 10.1007/s00467-013-2706-2. Epub 2014 Mar 1. Review.

11.

The ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expression.

Wu M, Yang C, Tao B, Bu S, Guay-Woodford LM.

PLoS One. 2013 Dec 11;8(12):e83062. doi: 10.1371/journal.pone.0083062. eCollection 2013.

12.

Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy.

Sweeney WE Jr, Avner ED.

Pediatr Res. 2014 Jan;75(1-2):148-57. doi: 10.1038/pr.2013.191. Epub 2013 Oct 31. Review.

13.

Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics.

Vazifehmand R, Rossetti S, Saber S, Khorshid HR, Harris PC.

BMC Nephrol. 2013 Sep 8;14:190. doi: 10.1186/1471-2369-14-190.

14.

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.

15.

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.

16.

Insignificant effect of secretin in rodent models of polycystic kidney and liver disease.

Wang X, Ye H, Ward CJ, Chu JY, Masyuk TV, Larusso NF, Harris PC, Chow BK, Torres VE.

Am J Physiol Renal Physiol. 2012 Oct;303(7):F1089-98. doi: 10.1152/ajprenal.00242.2012. Epub 2012 Jul 18.

17.

Cystic kidney diseases: many ways to form a cyst.

Loftus H, Ong AC.

Pediatr Nephrol. 2013 Jan;28(1):33-49. doi: 10.1007/s00467-012-2221-x. Epub 2012 Jun 27. Review.

18.

Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model.

Sato Y, Ren XS, Nakanuma Y.

Int J Hepatol. 2012;2012:107945. doi: 10.1155/2012/107945. Epub 2011 Jul 6.

19.

Educational paper: ciliopathies.

Bergmann C.

Eur J Pediatr. 2012 Sep;171(9):1285-300. doi: 10.1007/s00431-011-1553-z. Epub 2011 Sep 7. Review.

20.

The spectrum of polycystic kidney disease in children.

Dell KM.

Adv Chronic Kidney Dis. 2011 Sep;18(5):339-47. doi: 10.1053/j.ackd.2011.05.001. Review.

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