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Items: 1 to 20 of 161

1.

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.

2.

Polycystic Kidney Disease, Autosomal Recessive.

Sweeney WE, Avner ED.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jul 19 [updated 2016 Sep 15].

3.

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.

4.

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC.

Medicine (Baltimore). 2006 Jan;85(1):1-21.

5.

Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease.

Khan K, Schwarzenberg SJ, Sharp HL, Matas AJ, Chavers BM.

Am J Transplant. 2002 Apr;2(4):360-5.

6.

Liver disease in autosomal recessive polycystic kidney disease: clinical characteristics and management in relation to renal failure.

Luoto TT, Pakarinen MP, Jahnukainen T, Jalanko H.

J Pediatr Gastroenterol Nutr. 2014 Aug;59(2):190-6. doi: 10.1097/MPG.0000000000000422.

PMID:
24806835
7.

Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis.

Rawat D, Kelly DA, Milford DV, Sharif K, Lloyd C, McKiernan PJ.

J Pediatr Gastroenterol Nutr. 2013 Aug;57(2):161-6. doi: 10.1097/MPG.0b013e318291e72b.

PMID:
23518487
8.

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.

9.

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.

10.

Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.

O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M.

J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c.

PMID:
21694639
11.

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.

12.

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Málaga S, Navarro M, El-Youssef M, Torres VE, Harris PC.

Kidney Int. 2003 Aug;64(2):391-403.

13.

Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.

Brinkert F, Lehnhardt A, Montoya C, Helmke K, Schaefer H, Fischer L, Nashan B, Bergmann C, Ganschow R, Kemper MJ.

Transpl Int. 2013 Jun;26(6):640-50. doi: 10.1111/tri.12098. Epub 2013 Apr 15.

14.

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.

15.

[Investigation of the gene locus in autosomal polycystic kidney disease in a 21 year old female patient with congenital hepatic fibrosis and polycystic liver].

Kosztolányi S, Gasztonyi B, Vincze A, Battyány I, Hegedús G, Czakó M, Pár A, Mózsik G.

Orv Hetil. 2002 Nov 17;143(46):2593-6. Review. Hungarian.

PMID:
12520854
16.

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJ.

Hum Genet. 2005 Nov;118(2):185-206. Epub 2005 Nov 15.

PMID:
16133180
17.

Clinical manifestations of autosomal recessive polycystic kidney disease.

Hoyer PF.

Curr Opin Pediatr. 2015 Apr;27(2):186-92. doi: 10.1097/MOP.0000000000000196. Review.

PMID:
25689455
18.

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie).

Kidney Int. 2005 Mar;67(3):829-48.

19.

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).

Turkbey B, Ocak I, Daryanani K, Font-Montgomery E, Lukose L, Bryant J, Tuchman M, Mohan P, Heller T, Gahl WA, Choyke PL, Gunay-Aygun M.

Pediatr Radiol. 2009 Feb;39(2):100-11. doi: 10.1007/s00247-008-1064-x. Epub 2008 Dec 17. Review.

20.

Liver disease in autosomal recessive polycystic kidney disease.

Shneider BL, Magid MS.

Pediatr Transplant. 2005 Oct;9(5):634-9. Review.

PMID:
16176423

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