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Journal Abstract Search


262 related items for PubMed ID: 25250579

  • 1. Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD).
    Ling G, Landau D, Bergmann C, Maor E, Yerushalmi B.
    Clin Nephrol; 2015 May; 83(5):297-300. PubMed ID: 25250579
    [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
    [Abstract] [Full Text] [Related]

  • 3. Clinical manifestations of autosomal recessive polycystic kidney disease.
    Hoyer PF.
    Curr Opin Pediatr; 2015 Apr; 27(2):186-92. PubMed ID: 25689455
    [Abstract] [Full Text] [Related]

  • 4. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K.
    Hum Mutat; 2004 May; 23(5):487-95. PubMed ID: 15108281
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. [Gene diagnosis and clinical characteristics of autosomal recessive polycystic kidney disease].
    Liu SP, Ding J.
    Zhonghua Er Ke Za Zhi; 2013 Apr; 51(4):311-3. PubMed ID: 23927809
    [No Abstract] [Full Text] [Related]

  • 7. Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
    Ebner K, Dafinger C, Ortiz-Bruechle N, Koerber F, Schermer B, Benzing T, Dötsch J, Zerres K, Weber LT, Beck BB, Liebau MC.
    Pediatr Nephrol; 2017 Jul; 32(7):1269-1273. PubMed ID: 28364132
    [Abstract] [Full Text] [Related]

  • 8. 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. PubMed ID: 12846734
    [Abstract] [Full Text] [Related]

  • 9. Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.
    Al Alawi I, Molinari E, Al Salmi I, Al Rahbi F, Al Mawali A, Sayer JA.
    BMC Nephrol; 2020 Aug 14; 21(1):347. PubMed ID: 32799815
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 31(1):113-9. PubMed ID: 26260382
    [Abstract] [Full Text] [Related]

  • 11. Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
    Zingg-Schenk A, Caduff J, Azzarello-Burri S, Bergmann C, Drenth JP, Neuhaus TJ.
    Pediatr Nephrol; 2012 Jul 14; 27(7):1197-200. PubMed ID: 22415584
    [Abstract] [Full Text] [Related]

  • 12. Transcriptional complexity in autosomal recessive polycystic kidney disease.
    Frank V, Zerres K, Bergmann C.
    Clin J Am Soc Nephrol; 2014 Oct 07; 9(10):1729-36. PubMed ID: 25104275
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Autosomal recessive polycystic kidney disease (ARPKD).
    Zerres K, Rudnik-Schöneborn S, Senderek J, Eggermann T, Bergmann C.
    J Nephrol; 2003 Dec 22; 16(3):453-8. PubMed ID: 12832752
    [Abstract] [Full Text] [Related]

  • 15. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
    Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I.
    Pediatr Nephrol; 2018 Oct 22; 33(10):1713-1721. PubMed ID: 29956005
    [Abstract] [Full Text] [Related]

  • 16. Liver disease in autosomal recessive polycystic kidney disease.
    Shneider BL, Magid MS.
    Pediatr Transplant; 2005 Oct 22; 9(5):634-9. PubMed ID: 16176423
    [Abstract] [Full Text] [Related]

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  • 18. 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 Oct 22; 2016():4918798. PubMed ID: 27891514
    [Abstract] [Full Text] [Related]

  • 19. [PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].
    Hamo S, Bacchetta J, Bertholet-Thomas A, Ranchin B, Cochat P, Michel-Calemard L.
    Nephrol Ther; 2018 Nov 22; 14(6):474-477. PubMed ID: 29703621
    [Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]


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