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Journal Abstract Search

1137 related items for PubMed ID: 23900199

  • 1. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
    [Abstract] [Full Text] [Related]

  • 2. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2014 Feb 24; 55(2):1149-60. PubMed ID: 24474277
    [Abstract] [Full Text] [Related]

  • 3. Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
    Fingert JH, Oh K, Chung M, Scheetz TE, Andorf JL, Johnson RM, Sheffield VC, Stone EM.
    Arch Ophthalmol; 2008 Sep 24; 126(9):1301-7. PubMed ID: 18779497
    [Abstract] [Full Text] [Related]

  • 4. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.
    PLoS One; 2015 Sep 24; 10(7):e0131679. PubMed ID: 26147992
    [Abstract] [Full Text] [Related]

  • 5. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
    Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.
    Hum Mutat; 2013 Mar 24; 34(3):506-14. PubMed ID: 23281133
    [Abstract] [Full Text] [Related]

  • 6. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
    Li Y, Pan Q, Gu YS.
    J Zhejiang Univ Sci B; 2017 May 24; 18(5):421-429. PubMed ID: 28471114
    [Abstract] [Full Text] [Related]

  • 7. Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
    Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.
    JAMA Ophthalmol; 2015 Mar 24; 133(3):312-8. PubMed ID: 25541840
    [Abstract] [Full Text] [Related]

  • 8. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
    Ophthalmology; 2010 Nov 24; 117(11):2169-77.e3. PubMed ID: 20591486
    [Abstract] [Full Text] [Related]

  • 9. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
    Mol Vis; 2013 Nov 24; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 10. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
    Sun W, Gerth C, Maeda A, Lodowski DT, Van Der Kraak L, Saperstein DA, Héon E, Palczewski K.
    Vision Res; 2007 Jul 24; 47(15):2055-66. PubMed ID: 17512964
    [Abstract] [Full Text] [Related]

  • 11. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
    Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.
    Clin Genet; 2013 Aug 24; 84(2):150-9. PubMed ID: 23683095
    [Abstract] [Full Text] [Related]

  • 12. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
    Ophthalmology; 2014 Aug 24; 121(8):1620-7. PubMed ID: 24697911
    [Abstract] [Full Text] [Related]

  • 13. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
    Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI.
    Invest Ophthalmol Vis Sci; 2010 Jul 24; 51(7):3646-52. PubMed ID: 20130272
    [Abstract] [Full Text] [Related]

  • 14. [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
    Cui Y, Zhao KX, Wang L, Wang Q, Zhang W, Chen WY, Wang LM.
    Zhonghua Yan Ke Za Zhi; 2003 Jan 24; 39(1):28-32. PubMed ID: 12760810
    [Abstract] [Full Text] [Related]

  • 15. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
    Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP.
    J Med Genet; 2014 Jul 24; 51(7):444-8. PubMed ID: 24737827
    [Abstract] [Full Text] [Related]

  • 16. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
    den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Jul 24; 125(7):932-5. PubMed ID: 17620573
    [Abstract] [Full Text] [Related]

  • 17. Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
    Yücel-Yılmaz D, Tarlan B, Kıratlı H, Ozgül RK.
    DNA Cell Biol; 2014 Dec 24; 33(12):876-83. PubMed ID: 25148430
    [Abstract] [Full Text] [Related]

  • 18. 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 24; 48(12):5690-8. PubMed ID: 18055821
    [Abstract] [Full Text] [Related]

  • 19. Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
    Pomares E, Marfany G, Brión MJ, Carracedo A, Gonzàlez-Duarte R.
    Hum Mutat; 2007 May 24; 28(5):511-6. PubMed ID: 17279538
    [Abstract] [Full Text] [Related]

  • 20. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.
    J Hum Genet; 2015 Oct 24; 60(10):625-30. PubMed ID: 26246154
    [Abstract] [Full Text] [Related]

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