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Journal Abstract Search

302 related items for PubMed ID: 33691693

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  • 5. Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
    Conti GM, Vaclavik V, Rivolta C, Escher P, Schorderet DF, Munier FL, Tran HV.
    Ophthalmic Res; 2024; 67(1):172-182. PubMed ID: 38160664
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  • 6. Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
    Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jabłónska J, Rydzanicz M, Stawiński P, Ciara E, Lipska-Ziętkiewicz BS, Khan MI, Cremers FPM, Płoski R, Chrzanowska KH.
    Mol Vis; 2021; 27():457-465. PubMed ID: 34321860
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  • 8. Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
    Azab B, Dardas Z, Aburizeg D, Al-Bdour M, Abu-Ameerh M, Saleh T, Barham R, Maswadi R, Ababneh NA, Alsalem M, Zouk H, Amr S, Awidi A.
    Genes (Basel); 2021 Apr 19; 12(4):. PubMed ID: 33921607
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  • 9. Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.
    Puertas-Neyra K, Coco-Martin RM, Hernandez-Rodriguez LA, Gobelli D, Garcia-Ferrer Y, Palma-Vecino R, Tellería JJ, Simarro M, de la Fuente MA, Fernandez-Bueno I.
    Stem Cell Res Ther; 2024 Jul 02; 15(1):192. PubMed ID: 38956727
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  • 10. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
    Lin S, Vermeirsch S, Pontikos N, Martin-Gutierrez MP, Daich Varela M, Malka S, Schiff E, Knight H, Wright G, Jurkute N, Simcoe MJ, Yu-Wai-Man P, Moosajee M, Michaelides M, Mahroo OA, Webster AR, Arno G.
    Ophthalmol Retina; 2024 Jul 02; 8(7):699-709. PubMed ID: 38219857
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  • 11. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
    Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY.
    Genes (Basel); 2021 Apr 30; 12(5):. PubMed ID: 33946315
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  • 17. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
    Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C.
    JAMA Ophthalmol; 2021 Mar 01; 139(3):278-291. PubMed ID: 33507216
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  • 18. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
    Surl D, Won D, Lee ST, Lee CS, Lee J, Lim HT, Chung SA, Song WK, Kim M, Kim SS, Shin S, Choi JR, Sangermano R, Byeon SH, Bujakowska KM, Han J.
    JAMA Netw Open; 2024 May 01; 7(5):e2414198. PubMed ID: 38819824
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  • 19. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
    Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.
    PLoS One; 2013 May 01; 8(6):e65574. PubMed ID: 23940504
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