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220 related items for PubMed ID: 38278208

  • 1. 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; 100():101244. PubMed ID: 38278208
    [Abstract] [Full Text] [Related]

  • 2. Retinal imaging in inherited retinal diseases.
    Georgiou M, Fujinami K, Michaelides M.
    Ann Eye Sci; 2020 Sep; 5():. PubMed ID: 33928237
    [Abstract] [Full Text] [Related]

  • 3. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y.
    Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094
    [Abstract] [Full Text] [Related]

  • 4. Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
    Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S.
    Int J Mol Sci; 2023 May 17; 24(10):. PubMed ID: 37240262
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  • 6. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
    Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M.
    Am J Ophthalmol; 2023 Oct 17; 254():87-103. PubMed ID: 37327959
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  • 7.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Weleber RG, Francis PJ, Trzupek KM, Beattie C.
    ; 1993 Oct 17. PubMed ID: 20301475
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  • 8. Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
    Georgiou M, Fujinami K, Michaelides M.
    Clin Exp Ophthalmol; 2021 Apr 17; 49(3):270-288. PubMed ID: 33686777
    [Abstract] [Full Text] [Related]

  • 9. 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 17; 190():58-68. PubMed ID: 29559409
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  • 12. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Jun 17; 26():423-433. PubMed ID: 32565670
    [Abstract] [Full Text] [Related]

  • 13. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
    Li S, Huang L, Xiao X, Jia X, Guo X, Zhang Q.
    JAMA Ophthalmol; 2014 Sep 17; 132(9):1076-83. PubMed ID: 24903488
    [Abstract] [Full Text] [Related]

  • 14. 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 17; 10(7):e0131679. PubMed ID: 26147992
    [Abstract] [Full Text] [Related]

  • 15. Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
    Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R.
    Invest Ophthalmol Vis Sci; 2014 Jul 31; 55(9):5510-21. PubMed ID: 25082885
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  • 16. Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).
    Weleber RG.
    Ophthalmic Genet; 2002 Jun 31; 23(2):71-97. PubMed ID: 12187427
    [Abstract] [Full Text] [Related]

  • 17. Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
    Rahman N, Georgiou M, Khan KN, Michaelides M.
    Br J Ophthalmol; 2020 Apr 31; 104(4):451-460. PubMed ID: 31704701
    [Abstract] [Full Text] [Related]

  • 18. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
    Ugur Iseri SA, Durlu YK, Tolun A.
    Eur J Hum Genet; 2010 Oct 31; 18(10):1121-6. PubMed ID: 20517349
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