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Journal Abstract Search

265 related items for PubMed ID: 20300565

  • 1. TRPM1 mutations are associated with the complete form of congenital stationary night blindness.
    Nakamura M, Sanuki R, Yasuma TR, Onishi A, Nishiguchi KM, Koike C, Kadowaki M, Kondo M, Miyake Y, Furukawa T.
    Mol Vis; 2010 Mar 12; 16():425-37. PubMed ID: 20300565
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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 12; 85(5):720-9. PubMed ID: 19896113
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  • 3. 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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  • 4. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
    van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M.
    Am J Hum Genet; 2009 Nov 01; 85(5):730-6. PubMed ID: 19896109
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  • 6. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
    Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR.
    Am J Hum Genet; 2009 Nov 01; 85(5):711-9. PubMed ID: 19878917
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  • 7. Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
    Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI.
    Acta Ophthalmol; 2022 Sep 01; 100(6):e1332-e1339. PubMed ID: 35633130
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  • 9. Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
    Delle Fave M, Cordonnier M, Vallee L, Condroyer C, Zeitz C, Balikova I.
    Ophthalmic Genet; 2021 Jun 01; 42(3):296-299. PubMed ID: 33691579
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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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  • 18. TRPM1.
    Irie S, Furukawa T.
    Handb Exp Pharmacol; 2014 Aug 19; 222():387-402. PubMed ID: 24756714
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