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627 related items for PubMed ID: 26695994

  • 1. 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]

  • 2. 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 22; 23(5):487-95. PubMed ID: 15108281
    [Abstract] [Full Text] [Related]

  • 3. 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 22; 14(1):76-89. PubMed ID: 12506140
    [Abstract] [Full Text] [Related]

  • 4. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
    Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L.
    J Hum Genet; 2016 Sep 22; 61(9):811-21. PubMed ID: 27225849
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 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 22; 67(3):829-48. PubMed ID: 15698423
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 22; 32(7):1269-1273. PubMed ID: 28364132
    [Abstract] [Full Text] [Related]

  • 9. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K.
    Hum Mutat; 2005 Mar 22; 25(3):225-31. PubMed ID: 15706593
    [Abstract] [Full Text] [Related]

  • 10. Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.
    Zvereff V, Yao S, Ramsey J, Mikhail FM, Vijzelaar R, Messiaen L.
    Genet Test Mol Biomarkers; 2010 Aug 22; 14(4):505-10. PubMed ID: 20575693
    [Abstract] [Full Text] [Related]

  • 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 22; 118(2):185-206. PubMed ID: 16133180
    [Abstract] [Full Text] [Related]

  • 12. Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
    Krall P, Pineda C, Ruiz P, Ejarque L, Vendrell T, Camacho JA, Mendizábal S, Oliver A, Ballarín J, Torra R, Ars E.
    Pediatr Nephrol; 2014 Feb 22; 29(2):223-34. PubMed ID: 24162162
    [Abstract] [Full Text] [Related]

  • 13. A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
    Tavira B, Gómez J, Málaga S, Santos F, Fernández-Aracama J, Alonso B, Iglesias S, Benavides A, Hernando I, Plasencia A, Alvarez V, Coto E.
    Gene; 2015 Apr 25; 561(1):165-9. PubMed ID: 25701400
    [Abstract] [Full Text] [Related]

  • 14. A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.
    Xu Y, Xiao B, Jiang WT, Wang L, Gen HQ, Chen YW, Sun Y, Ji X.
    Gene; 2014 Nov 01; 551(1):33-8. PubMed ID: 25153916
    [Abstract] [Full Text] [Related]

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  • 16. 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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  • 18. Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.
    Tong YQ, Liu B, Fu CH, Zheng HY, Gu J, Liu H, Luo HB, Li Y.
    J Huazhong Univ Sci Technolog Med Sci; 2016 Oct 14; 36(5):758-766. PubMed ID: 27752906
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
    Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM.
    J Med Genet; 2005 Apr 07; 42(4):336-49. PubMed ID: 15805161
    [No Abstract] [Full Text] [Related]

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