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Journal Abstract Search

179 related items for PubMed ID: 16522655

  • 1. Retinitis pigmentosa and renal failure in a patient with mutations in INVS.
    O'Toole JF, Otto EA, Frishberg Y, Hildebrandt F.
    Nephrol Dial Transplant; 2006 Jul; 21(7):1989-91. PubMed ID: 16522655
    [Abstract] [Full Text] [Related]

  • 2. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
    Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F.
    Hum Mutat; 2008 Mar; 29(3):418-26. PubMed ID: 18076122
    [Abstract] [Full Text] [Related]

  • 3. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
    Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.
    J Med Genet; 2009 Oct; 46(10):663-70. PubMed ID: 19508969
    [Abstract] [Full Text] [Related]

  • 4. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
    den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821
    [Abstract] [Full Text] [Related]

  • 5. Nephronophthisis-associated ciliopathies.
    Hildebrandt F, Zhou W.
    J Am Soc Nephrol; 2007 Jun; 18(6):1855-71. PubMed ID: 17513324
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
    Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH.
    Am J Med Genet A; 2014 Jul; 164A(7):1627-34. PubMed ID: 24677454
    [Abstract] [Full Text] [Related]

  • 8. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
    Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H.
    Nat Genet; 2003 Aug; 34(4):455-9. PubMed ID: 12872122
    [Abstract] [Full Text] [Related]

  • 9. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
    Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M.
    Nat Genet; 2007 Aug; 39(8):1018-24. PubMed ID: 17618285
    [Abstract] [Full Text] [Related]

  • 10. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
    Gamundi MJ, Hernan I, Muntanyola M, Maseras M, López-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M.
    Hum Mutat; 2008 Jun; 29(6):869-78. PubMed ID: 18412284
    [Abstract] [Full Text] [Related]

  • 11. Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
    Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F.
    Am J Hum Genet; 2002 May; 70(5):1240-6. PubMed ID: 11920287
    [Abstract] [Full Text] [Related]

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  • 13. Differential tissue distribution of the Invs gene product inversin.
    Nürnberger J, Kavapurackal R, Zhang SJ, Opazo Saez A, Heusch G, Philipp T, Pietruck F, Kribben A.
    Cell Tissue Res; 2006 Jan; 323(1):147-55. PubMed ID: 16007506
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  • 16. [Hereditary chorioretinal degeneration and nephronophthisis. The role of Senior-Löken syndrome].
    Orssaud C, Kleinknecht C, Habib R, Broyer M.
    Ophtalmologie; 1989 Jan; 3(4):270-2. PubMed ID: 2641132
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  • 17. Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
    Wang C, Nakanishi N, Ohishi K, Hikoya A, Koide K, Sato M, Nakamura M, Hotta Y, Minoshima S.
    Ophthalmic Genet; 2008 Mar; 29(1):29-32. PubMed ID: 18363170
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  • 19. Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.
    Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M, Ooto S, Suzuki T, Hirami Y, Ikeda H, Kawagoe N, Oishi A, Ichiyama S, Takahashi M, Yoshimura N, Kosugi S.
    J Med Genet; 2008 Jul; 45(7):465-72. PubMed ID: 18310263
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