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Journal Abstract Search

166 related items for PubMed ID: 7627181

  • 1. Mutations in the Norrie disease gene.
    Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB.
    Hum Mutat; 1995; 5(4):285-92. PubMed ID: 7627181
    [Abstract] [Full Text] [Related]

  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 3. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970
    [Abstract] [Full Text] [Related]

  • 4. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
    Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T.
    Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
    [Abstract] [Full Text] [Related]

  • 5. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
    Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C.
    Mol Vis; 2005 Sep 02; 11():705-12. PubMed ID: 16163268
    [Abstract] [Full Text] [Related]

  • 6. Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.
    Hiraoka M, Berinstein DM, Trese MT, Shastry BS.
    J Hum Genet; 2001 Sep 02; 46(4):178-81. PubMed ID: 11322656
    [Abstract] [Full Text] [Related]

  • 7. High frequency of deletion mutations in p53 gene from squamous cell lung cancer patients in Taiwan.
    Wang YC, Chen CY, Chen SK, Cherng SH, Ho WL, Lee H.
    Cancer Res; 1998 Jan 15; 58(2):328-33. PubMed ID: 9443413
    [Abstract] [Full Text] [Related]

  • 8. Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients.
    Kanagavalli J, Krishnadas SR, Pandaranayaka E, Krishnaswamy S, Sundaresan P.
    Mol Vis; 2003 Nov 14; 9():606-14. PubMed ID: 14627955
    [Abstract] [Full Text] [Related]

  • 9. Genetic basis and carrier detection of hemophilia B of Chinese origin.
    Lin SW, Shen MC.
    Thromb Haemost; 1993 Mar 01; 69(3):247-52. PubMed ID: 8470048
    [Abstract] [Full Text] [Related]

  • 10. NDP gene mutations in 14 French families with Norrie disease.
    Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP.
    Hum Mutat; 2003 Dec 01; 22(6):499. PubMed ID: 14635119
    [Abstract] [Full Text] [Related]

  • 11. Mutational analysis of the transforming growth factor beta receptor type II gene in hereditary nonpolyposis colorectal cancer and early-onset colorectal cancer patients.
    Shin KH, Park YJ, Park JG.
    Clin Cancer Res; 2000 Feb 01; 6(2):536-40. PubMed ID: 10690536
    [Abstract] [Full Text] [Related]

  • 12. Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.
    Ruiz A, Kuehn MH, Andorf JL, Stone E, Hageman GS, Bok D.
    Invest Ophthalmol Vis Sci; 2001 Jan 01; 42(1):31-7. PubMed ID: 11133845
    [Abstract] [Full Text] [Related]

  • 13. Mutations in MYOC gene of Indian primary open angle glaucoma patients.
    Mukhopadhyay A, Acharya M, Mukherjee S, Ray J, Choudhury S, Khan M, Ray K.
    Mol Vis; 2002 Nov 15; 8():442-8. PubMed ID: 12447164
    [Abstract] [Full Text] [Related]

  • 14. Molecular analysis of the NDP gene in two families with Norrie disease.
    Rivera-Vega MR, Chiñas-Lopez S, Vaca AL, Arenas-Sordo ML, Kofman-Alfaro S, Messina-Baas O, Cuevas-Covarrubias SA.
    Acta Ophthalmol Scand; 2005 Apr 15; 83(2):210-4. PubMed ID: 15799735
    [Abstract] [Full Text] [Related]

  • 15. Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.
    Rodriguez IR, Mazuruk K, Jaworski C, Iwata F, Moreira EF, Kaiser-Kupfer MI.
    Invest Ophthalmol Vis Sci; 1998 Aug 15; 39(9):1736-9. PubMed ID: 9699564
    [Abstract] [Full Text] [Related]

  • 16. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
    Brzeziańska E, Zdzieszyńska M, Goś R, Lewiński A.
    Klin Oczna; 2004 Aug 15; 106(6):743-8. PubMed ID: 15787173
    [Abstract] [Full Text] [Related]

  • 17. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
    Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA.
    Ophthalmology; 1999 May 15; 106(5):964-70. PubMed ID: 10328397
    [Abstract] [Full Text] [Related]

  • 18. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
    Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J.
    Hum Mutat; 2006 Sep 15; 27(9):975-6. PubMed ID: 16917909
    [Abstract] [Full Text] [Related]

  • 19. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
    Lloyd SE, Pearce SH, Günther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV.
    J Clin Invest; 1997 Mar 01; 99(5):967-74. PubMed ID: 9062355
    [Abstract] [Full Text] [Related]

  • 20. [Coding-sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease].
    Gao H, Li XF, Zhang ZB, Wang WL, Huang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb 01; 25(1):82-5. PubMed ID: 18247312
    [Abstract] [Full Text] [Related]

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