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Journal Abstract Search

208 related items for PubMed ID: 30090012

  • 1. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
    Souzeau E, Thompson JA, McLaren TL, De Roach JN, Barnett CP, Lamey TM, Craig JE.
    Mol Vis; 2018; 24():478-484. PubMed ID: 30090012
    [Abstract] [Full Text] [Related]

  • 2. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 3. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
    [Abstract] [Full Text] [Related]

  • 4. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
    Motta FL, Filippelli-Silva R, Kitajima JP, Batista DA, Wohler ES, Sobreira NL, Martin RP, Ferraz Sallum JM.
    Ophthalmic Genet; 2021 Oct; 42(5):553-560. PubMed ID: 34157943
    [Abstract] [Full Text] [Related]

  • 5. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
    Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C.
    Ophthalmology; 2014 Jan; 121(1):399-407. PubMed ID: 24144451
    [Abstract] [Full Text] [Related]

  • 6. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.
    Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
    [Abstract] [Full Text] [Related]

  • 7. 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; 125(7):932-5. PubMed ID: 17620573
    [Abstract] [Full Text] [Related]

  • 8. A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
    Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ.
    Br J Ophthalmol; 2016 Apr; 100(4):495-500. PubMed ID: 26472407
    [Abstract] [Full Text] [Related]

  • 9. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
    Bodenbender JP, Marino V, Bethge L, Stingl K, Haack TB, Biskup S, Kohl S, Kühlewein L, Dell'Orco D, Weisschuh N.
    Int J Mol Sci; 2023 Jan 31; 24(3):. PubMed ID: 36769033
    [Abstract] [Full Text] [Related]

  • 10. 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 Jan 31; 10(7):e0131679. PubMed ID: 26147992
    [Abstract] [Full Text] [Related]

  • 11. A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
    Khan AO, Bergmann C, Eisenberger T, Bolz HJ.
    Br J Ophthalmol; 2015 Apr 31; 99(4):488-92. PubMed ID: 25342276
    [Abstract] [Full Text] [Related]

  • 12. Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
    Majander A, Sankila EM, Falck A, Vasara LK, Seitsonen S, Kulmala M, Haavisto AK, Avela K, Turunen JA.
    Acta Ophthalmol; 2023 Mar 31; 101(2):215-221. PubMed ID: 36128853
    [Abstract] [Full Text] [Related]

  • 13. Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
    Tayebi N, Akinrinade O, Khan MI, Hejazifar A, Dehghani A, Cremers FPM, Akhlaghi M.
    Mol Vis; 2019 Mar 31; 25():106-117. PubMed ID: 30820146
    [Abstract] [Full Text] [Related]

  • 14. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
    Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR.
    Am J Hum Genet; 2011 Jul 15; 89(1):183-90. PubMed ID: 21763485
    [Abstract] [Full Text] [Related]

  • 15. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
    Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M.
    Prog Retin Eye Res; 2024 May 15; 100():101244. PubMed ID: 38278208
    [Abstract] [Full Text] [Related]

  • 16. Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
    Helm BM, Willer JR, Sadeghpour A, Golzio C, Crouch E, Vergano SS, Katsanis N, Davis EE.
    Hum Genomics; 2017 Jul 19; 11(1):16. PubMed ID: 28724397
    [Abstract] [Full Text] [Related]

  • 17. The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
    Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA.
    Mol Vis; 2017 Jul 19; 23():695-706. PubMed ID: 29062221
    [Abstract] [Full Text] [Related]

  • 18. Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
    Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV.
    Ophthalmic Genet; 2015 Jul 19; 36(4):333-8. PubMed ID: 24547928
    [Abstract] [Full Text] [Related]

  • 19. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.
    Ophthalmology; 2017 Jun 19; 124(6):884-895. PubMed ID: 28341475
    [Abstract] [Full Text] [Related]

  • 20. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
    Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y.
    Genes (Basel); 2022 Feb 16; 13(2):. PubMed ID: 35205402
    [Abstract] [Full Text] [Related]

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