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Items: 1 to 20 of 171

1.

Autosomal recessive polycystic kidney disease: the clinical experience in North America.

Guay-Woodford LM, Desmond RA.

Pediatrics. 2003 May;111(5 Pt 1):1072-80.

PMID:
12728091
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.

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.

4.

Autosomal recessive polycystic kidney disease in adulthood.

Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grünfeld JP.

Nephrol Dial Transplant. 2001 Aug;16(8):1648-52.

PMID:
11477168
5.

Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

Capisonda R, Phan V, Traubuci J, Daneman A, Balfe JW, Guay-Woodford LM.

Pediatr Nephrol. 2003 Feb;18(2):119-26. Epub 2003 Jan 21.

PMID:
12579400
6.

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.

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.

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.

10.

Italian cancer figures, report 2012: Cancer in children and adolescents.

AIRTUM Working Group.; CCM.; AIEOP Working Group..

Epidemiol Prev. 2013 Jan-Feb;37(1 Suppl 1):1-225. English, Italian.

11.

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S.

J Am Soc Nephrol. 2003 Aug;14(8):2004-14.

12.

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
13.

Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort study.

Hartung EA, Matheson M, Lande MB, Dell KM, Guay-Woodford LM, Gerson AC, Warady BA, Hooper SR, Furth SL.

Pediatr Nephrol. 2014 Oct;29(10):1957-65. doi: 10.1007/s00467-014-2816-5. Epub 2014 May 15.

14.

Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood.

Avni FE, Guissard G, Hall M, Janssen F, DeMaertelaer V, Rypens F.

Pediatr Radiol. 2002 Mar;32(3):169-74.

PMID:
12164348
15.

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.

16.

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.

17.

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.

18.

Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.

Büscher R, Büscher AK, Weber S, Mohr J, Hegen B, Vester U, Hoyer PF.

Pediatr Nephrol. 2014 Oct;29(10):1915-25. doi: 10.1007/s00467-013-2634-1. Epub 2013 Oct 10. Review.

PMID:
24114580
19.

Hepatorenal fibrocystic diseases in children.

Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI.

Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11.

PMID:
26260382
20.

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.

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