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463 related items for PubMed ID: 12728091

  • 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. PubMed ID: 12728091
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 16523049
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    Subramanian S, Leslie SW, Ahmad T.
    ; 2024 01. PubMed ID: 30725822
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  • 6. The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study.
    Tutal O, Gulhan B, Atayar E, Yuksel S, Ozcakar ZB, Soylemezoglu O, Saygili S, Caliskan S, Inozu M, Baskin E, Duzova A, Hayran M, Topaloglu R, Ozaltin F.
    Nephron; 2024 01; 148(5):319-332. PubMed ID: 36657418
    [Abstract] [Full Text] [Related]

  • 7. 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. PubMed ID: 11477168
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  • 8. 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. PubMed ID: 12579400
    [Abstract] [Full Text] [Related]

  • 9. 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. PubMed ID: 15698423
    [Abstract] [Full Text] [Related]

  • 10. 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. PubMed ID: 23041322
    [Abstract] [Full Text] [Related]

  • 11. Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.
    Dorval G, Boyer O, Couderc A, Delbet JD, Heidet L, Debray D, Krug P, Girard M, Llanas B, Charbit M, Krid S, Biebuyck N, Fila M, Courivaud C, Tilley F, Garcelon N, Blanc T, Chardot C, Salomon R, Lacaille F.
    Pediatr Nephrol; 2021 May; 36(5):1165-1173. PubMed ID: 33165639
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  • 12. 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. PubMed ID: 20413436
    [Abstract] [Full Text] [Related]

  • 13. 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. PubMed ID: 12874454
    [Abstract] [Full Text] [Related]

  • 14. Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases.
    Guay-Woodford LM.
    J Pediatr Genet; 2014 Aug; 3(2):89-101. PubMed ID: 25632369
    [Abstract] [Full Text] [Related]

  • 15. 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. PubMed ID: 12164348
    [Abstract] [Full Text] [Related]

  • 16. Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
    Erger F, Brüchle NO, Gembruch U, Zerres K.
    Arch Gynecol Obstet; 2017 Apr; 295(4):897-906. PubMed ID: 28283827
    [Abstract] [Full Text] [Related]

  • 17. 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. PubMed ID: 24806835
    [Abstract] [Full Text] [Related]

  • 18. 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. PubMed ID: 26695994
    [Abstract] [Full Text] [Related]

  • 19. Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.
    Mekahli D, van Stralen KJ, Bonthuis M, Jager KJ, Balat A, Benetti E, Godefroid N, Edvardsson VO, Heaf JG, Jankauskiene A, Kerecuk L, Marinova S, Puteo F, Seeman T, Zurowska A, Pirenne J, Schaefer F, Groothoff JW, ESPN/ERA-EDTA Registry.
    Am J Kidney Dis; 2016 Nov 22; 68(5):782-788. PubMed ID: 27555106
    [Abstract] [Full Text] [Related]

  • 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 22; 64(2):391-403. PubMed ID: 12846734
    [Abstract] [Full Text] [Related]

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