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PUBMED FOR HANDHELDS

Journal Abstract Search


173 related items for PubMed ID: 31696758

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  • 23. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
    Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C.
    PLoS One; 2016; 11(12):e0168271. PubMed ID: 27977773
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  • 24. Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
    Smirnov VM, Robert MP, Condroyer C, Navarro J, Antonio A, Rozet JM, Sahel JA, Perrault I, Audo I, Zeitz C.
    JAMA Ophthalmol; 2022 Dec 01; 140(12):1163-1173. PubMed ID: 36264558
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  • 25. Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.
    Liu HY, Huang J, Xiao H, Zhang MJ, Shi FF, Jiang YH, Du H, He Q, Wang ZY.
    Mol Genet Genomic Med; 2019 Dec 01; 7(12):e952. PubMed ID: 31677249
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  • 26. 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 01; 100(4):495-500. PubMed ID: 26472407
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  • 30. A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
    Barnes CS, Alexander KR, Fishman GA.
    Ophthalmology; 2002 Mar 01; 109(3):575-83. PubMed ID: 11874764
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  • 31. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
    Huang L, Li W, Tang W, Zhu X, Ou-Yang P, Lu G.
    Mol Vis; 2012 Mar 01; 18():528-36. PubMed ID: 22419846
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  • 32. Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.
    Malaichamy S, Sen P, Sachidanandam R, Arokiasamy T, Lancelot ME, Audo I, Zeitz C, Soumittra N.
    Mol Vis; 2014 Mar 01; 20():341-51. PubMed ID: 24715752
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  • 35. Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
    Hayashi T, Mizobuchi K, Kikuchi S, Nakano T.
    Doc Ophthalmol; 2021 Apr 01; 142(2):265-273. PubMed ID: 33068213
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  • 37. Electronegative Electroretinograms in the United Arab Emirates.
    Alsalamah AK, Khan AO.
    Middle East Afr J Ophthalmol; 2020 Apr 01; 27(2):86-90. PubMed ID: 32874040
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  • 38. Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram.
    Noble KG, Carr RE, Siegel IM.
    Am J Ophthalmol; 1990 Jan 15; 109(1):44-8. PubMed ID: 2297031
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  • 39. Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
    Ivanova ME, Zolnikova IV, Gorgisheli KV, Atarshchikov DS, Ghosh P, Barh D.
    Ophthalmic Genet; 2019 Dec 15; 40(6):558-563. PubMed ID: 31826698
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  • 40. The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.
    Skorczyk-Werner A, Kocięcki J, Wawrocka A, Wicher K, Krawczyńiski MR.
    Klin Oczna; 2015 Dec 15; 117(1):27-30. PubMed ID: 26349155
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