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164 related items for PubMed ID: 12044753
1. Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type. Langrová H, Gamer D, Friedburg C, Besch D, Zrenner E, Apfelstedt-Sylla E. Vision Res; 2002 May; 42(11):1475-83. PubMed ID: 12044753 [Abstract] [Full Text] [Related]
2. [Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness]. Miyake Y. Nippon Ganka Gakkai Zasshi; 2002 Dec; 106(12):737-55; discussion 756. PubMed ID: 12610835 [Abstract] [Full Text] [Related]
6. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Am J Hum Genet; 2016 May 05; 98(5):1011-1019. PubMed ID: 27063057 [Abstract] [Full Text] [Related]
8. Scotopic threshold response in complete and incomplete types of congenital stationary night blindness. Miyake Y, Horiguchi M, Terasaki H, Kondo M. Invest Ophthalmol Vis Sci; 1994 Sep 05; 35(10):3770-5. PubMed ID: 8088964 [Abstract] [Full Text] [Related]
9. Photoreceptor and postreceptor responses in congenital stationary night blindness. Raghuram A, Hansen RM, Moskowitz A, Fulton AB. Invest Ophthalmol Vis Sci; 2013 Jul 10; 54(7):4648-58. PubMed ID: 23761088 [Abstract] [Full Text] [Related]
10. Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type. Ruether K, Apfelstedt-Sylla E, Zrenner E. Ger J Ophthalmol; 1993 Nov 10; 2(6):429-35. PubMed ID: 8312830 [Abstract] [Full Text] [Related]
11. A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction. Barnes CS, Alexander KR, Fishman GA. Ophthalmology; 2002 Mar 10; 109(3):575-83. PubMed ID: 11874764 [Abstract] [Full Text] [Related]
12. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C. Clin Genet; 2016 Jun 10; 89(6):690-9. PubMed ID: 26822852 [Abstract] [Full Text] [Related]
13. Cone function in congenital nyctalopia. Siegel IM, Greenstein VC, Seiple WH, Carr RE. Doc Ophthalmol; 1987 Mar 10; 65(3):307-18. PubMed ID: 3500024 [Abstract] [Full Text] [Related]
14. [Congenital stationary night blindness]. Svĕrák J, Jebavá R, Peregrin J, Zizka J, Hartmann M. Cesk Slov Oftalmol; 1996 Jul 10; 52(3):135-42. PubMed ID: 8768469 [Abstract] [Full Text] [Related]
15. The photopic electroretinogram in congenital stationary night blindness with myopia. Lachapelle P, Little JM, Polomeno RC. Invest Ophthalmol Vis Sci; 1983 Apr 10; 24(4):442-50. PubMed ID: 6601088 [Abstract] [Full Text] [Related]
16. Undetectable S cone electroretinogram b-wave in complete congenital stationary night blindness. Kamiyama M, Yamamoto S, Nitta K, Hayasaka S. Br J Ophthalmol; 1996 Jul 10; 80(7):637-9. PubMed ID: 8795377 [Abstract] [Full Text] [Related]
17. ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report. Rigaudière F, Roux C, Lachapelle P, Rosolen SG, Bitoun P, Gay-Duval A, Le Gargasson JF. Doc Ophthalmol; 2003 Sep 10; 107(2):203-12. PubMed ID: 14661912 [Abstract] [Full Text] [Related]
18. Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. Dan H, Song X, Li J, Xing Y, Li T. Ophthalmic Genet; 2017 Sep 10; 38(3):206-210. PubMed ID: 27428514 [Abstract] [Full Text] [Related]
19. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG. Hum Genet; 1998 Aug 10; 103(2):124-30. PubMed ID: 9760193 [Abstract] [Full Text] [Related]
20. A potential spontaneous rat model of X-linked congenital stationary night blindness. Zhang Z, Gu Y, Li L, Long T, Guo Q, Shi L. Doc Ophthalmol; 2003 Jul 10; 107(1):53-7. PubMed ID: 12906122 [Abstract] [Full Text] [Related] Page: [Next] [New Search]