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Journal Abstract Search

120 related items for PubMed ID: 9831234

  • 1. Nephronophthisis-medullary cystic disease: clinical and genetic aspects.
    Gusmano R, Ghiggeri GM, Caridi G.
    J Nephrol; 1998; 11(5):224-8. PubMed ID: 9831234
    [Abstract] [Full Text] [Related]

  • 2. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.
    Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M.
    Nat Genet; 1993 Apr; 3(4):342-5. PubMed ID: 7981755
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  • 3. Nephronophthisis-medullary cystic kidney disease: from bedside to bench and back again.
    Scolari F, Ghiggeri GM.
    Saudi J Kidney Dis Transpl; 2003 Apr; 14(3):316-27. PubMed ID: 17657103
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  • 6. Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus.
    Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi GL, Valzorio B, Tardanico R, Vizzardi V, Savoldi S, Viola BF, Bossini N, Prati E, Gusmano R, Maiorca R.
    Nephrol Dial Transplant; 1998 Oct; 13(10):2536-46. PubMed ID: 9794556
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  • 7. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
    Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F.
    Hum Mutat; 2005 Apr; 25(4):411. PubMed ID: 15776426
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  • 8. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
    Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S.
    Nat Genet; 2002 Oct; 32(2):300-5. PubMed ID: 12244321
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  • 9. Juvenile nephronophthisis and medullary cystic disease--the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy).
    Burke JR, Inglis JA, Craswell PW, Mitchell KR, Emmerson BT.
    Clin Nephrol; 1982 Jul; 18(1):1-8. PubMed ID: 7116701
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  • 10. Clinical, pathological and genetic aspects of a form of cystic disease of the renal medulla: familial juvenile nephronophthisis (FJN).
    van Collenburg JJ, Thompson MW, Huber J.
    Clin Nephrol; 1978 Feb; 9(2):55-62. PubMed ID: 639367
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  • 11. Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.
    Ala-Mello S, Koskimies O, Rapola J, Kääriäinen H.
    Eur J Hum Genet; 1999 Feb; 7(2):205-11. PubMed ID: 10196704
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  • 12. [Nephronophthisis].
    Loirat C.
    Rev Prat; 1997 Sep 15; 47(14):1541-4. PubMed ID: 9366111
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  • 14. [Polycystic kidney diseases: molecular genetics and counselling].
    Lespinasse J, Fourcade J, Schir F.
    Nephrol Ther; 2006 Jul 15; 2(3):120-6. PubMed ID: 16890136
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  • 15. [Current opinions about the etiology and pathogenesis of autosomal dominant polycystic kidney disease (ADPKD). I. Selected genetic aspects and mechanisms of cyst formation].
    Jasik P, Sułowicz W, Kraśniak A, Stompór T.
    Przegl Lek; 1998 Jul 15; 55(10):542-8. PubMed ID: 10224870
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  • 18. Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.
    Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedekind H, Schubotz C, Antignac C.
    Am J Hum Genet; 1993 Dec 15; 53(6):1256-61. PubMed ID: 8250041
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  • 19. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
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  • 20. Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
    Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E, Arbeitsgemeinschaft für Paediatrische Nephrologie (APN) Study Group.
    Kidney Int; 2001 Feb 15; 59(2):434-45. PubMed ID: 11168925
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