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508 related items for PubMed ID: 16523049

  • 1. 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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  • 2. 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
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  • 3. 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
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  • 4. 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 14; 67(3):829-48. PubMed ID: 15698423
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  • 5. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
    Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K.
    J Am Soc Nephrol; 2003 Jan 14; 14(1):76-89. PubMed ID: 12506140
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  • 10. Clinical manifestations of autosomal recessive polycystic kidney disease.
    Hoyer PF.
    Curr Opin Pediatr; 2015 Apr 14; 27(2):186-92. PubMed ID: 25689455
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  • 11. 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 14; 118(2):185-206. PubMed ID: 16133180
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  • 12. 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 14; 33(10):1713-1721. PubMed ID: 29956005
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  • 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
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  • 15. Autosomal recessive polycystic kidney disease: the clinical experience in North America.
    Guay-Woodford LM, Desmond RA.
    Pediatrics; 2003 May 22; 111(5 Pt 1):1072-80. PubMed ID: 12728091
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  • 16. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres K.
    Hum Mutat; 2004 May 22; 23(5):453-63. PubMed ID: 15108277
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  • 17. Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
    Ishiko S, Morisada N, Kondo A, Nagai S, Aoto Y, Okada E, Rossanti R, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Kaito H, Hamada R, Shima Y, Nakanishi K, Matsuo M, Iijima K, Nozu K.
    Clin Exp Nephrol; 2022 Feb 22; 26(2):140-153. PubMed ID: 34536170
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  • 20. 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 22; 57(2):161-6. PubMed ID: 23518487
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