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Journal Abstract Search

286 related items for PubMed ID: 19896109

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  • 2. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
    Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.
    Am J Hum Genet; 2009 Nov; 85(5):720-9. PubMed ID: 19896113
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  • 10. Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
    Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P.
    Acta Ophthalmol; 2021 Sep; 99(6):581-591. PubMed ID: 33369259
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  • 11. 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 Sep; 20():341-51. PubMed ID: 24715752
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  • 12. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
    Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.
    Invest Ophthalmol Vis Sci; 2005 Nov; 46(11):4328-35. PubMed ID: 16249515
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  • 13. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
    Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV.
    JAMA Ophthalmol; 2018 Apr 01; 136(4):389-398. PubMed ID: 29522070
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  • 14. TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
    AlTalbishi A, Zelinger L, Zeitz C, Hendler K, Namburi P, Audo I, Sheffer R, Yahalom C, Khateb S, Banin E, Sharon D.
    Sci Rep; 2019 Aug 19; 9(1):12047. PubMed ID: 31427709
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  • 17. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
    Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B, Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I.
    Am J Hum Genet; 2013 Jan 10; 92(1):67-75. PubMed ID: 23246293
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  • 18. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
    Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG.
    Am J Hum Genet; 2012 Feb 10; 90(2):331-9. PubMed ID: 22325362
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