These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
178 related articles for article (PubMed ID: 12353176)
1. [Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)]. Rudolph G; Kalpadakis P; Haritoglou C; Rivera A; Weber BH Klin Monbl Augenheilkd; 2002 Aug; 219(8):590-6. PubMed ID: 12353176 [TBL] [Abstract][Full Text] [Related]
2. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. Klevering BJ; Maugeri A; Wagner A; Go SL; Vink C; Cremers FP; Hoyng CB Ophthalmology; 2004 Mar; 111(3):546-53. PubMed ID: 15019334 [TBL] [Abstract][Full Text] [Related]
3. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Cremers FP; van de Pol DJ; van Driel M; den Hollander AI; van Haren FJ; Knoers NV; Tijmes N; Bergen AA; Rohrschneider K; Blankenagel A; Pinckers AJ; Deutman AF; Hoyng CB Hum Mol Genet; 1998 Mar; 7(3):355-62. PubMed ID: 9466990 [TBL] [Abstract][Full Text] [Related]
4. Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. Riveiro-Alvarez R; Lopez-Martinez MA; Zernant J; Aguirre-Lamban J; Cantalapiedra D; Avila-Fernandez A; Gimenez A; Lopez-Molina MI; Garcia-Sandoval B; Blanco-Kelly F; Corton M; Tatu S; Fernandez-San Jose P; Trujillo-Tiebas MJ; Ramos C; Allikmets R; Ayuso C Ophthalmology; 2013 Nov; 120(11):2332-7. PubMed ID: 23755871 [TBL] [Abstract][Full Text] [Related]
5. Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. Jiang F; Pan Z; Xu K; Tian L; Xie Y; Zhang X; Chen J; Dong B; Li Y Invest Ophthalmol Vis Sci; 2016 Jan; 57(1):145-52. PubMed ID: 26780318 [TBL] [Abstract][Full Text] [Related]
6. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Klevering BJ; Deutman AF; Maugeri A; Cremers FP; Hoyng CB Graefes Arch Clin Exp Ophthalmol; 2005 Feb; 243(2):90-100. PubMed ID: 15614537 [TBL] [Abstract][Full Text] [Related]
7. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. Fukui T; Yamamoto S; Nakano K; Tsujikawa M; Morimura H; Nishida K; Ohguro N; Fujikado T; Irifune M; Kuniyoshi K; Okada AA; Hirakata A; Miyake Y; Tano Y Invest Ophthalmol Vis Sci; 2002 Sep; 43(9):2819-24. PubMed ID: 12202497 [TBL] [Abstract][Full Text] [Related]
8. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. Rozet JM; Gerber S; Ghazi I; Perrault I; Ducroq D; Souied E; Cabot A; Dufier JL; Munnich A; Kaplan J J Med Genet; 1999 Jun; 36(6):447-51. PubMed ID: 10874631 [TBL] [Abstract][Full Text] [Related]
10. Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family. Simonelli F; Testa F; Zernant J; Nesti A; Rossi S; Rinaldi E; Allikmets R Ophthalmic Res; 2004; 36(2):82-8. PubMed ID: 15017103 [TBL] [Abstract][Full Text] [Related]
11. Association between genotype and phenotype in families with mutations in the ABCA4 gene. Kjellström U Mol Vis; 2014; 20():89-104. PubMed ID: 24453473 [TBL] [Abstract][Full Text] [Related]
14. Stargardt's disease and the ABCR gene. Westerfeld C; Mukai S Semin Ophthalmol; 2008; 23(1):59-65. PubMed ID: 18214793 [TBL] [Abstract][Full Text] [Related]
15. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease. Xi Q; Li L; Traboulsi EI; Wang QK Mol Vis; 2009; 15():638-45. PubMed ID: 19352439 [TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa. Ozgül RK; Durukan H; Turan A; Oner C; Ogüs A; Farber DB Hum Mutat; 2004 May; 23(5):523. PubMed ID: 15108289 [TBL] [Abstract][Full Text] [Related]
17. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa. Shastry BS Int J Mol Med; 2008 Jun; 21(6):715-20. PubMed ID: 18506364 [TBL] [Abstract][Full Text] [Related]
18. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. Crespí J; Buil JA; Bassaganyas F; Vela-Segarra JI; Díaz-Cascajosa J; Ayala-Ramírez R; Zenteno JC Am J Ophthalmol; 2008 Aug; 146(2):323-328. PubMed ID: 18554571 [TBL] [Abstract][Full Text] [Related]
19. Stargardt's pigmentosa: A novel combination of two inherited retinal dystrophies. Bartol-Puyal FA; Méndez-Martínez S; Pardiñas Barón N; Ruiz-Moreno Ó; Pablo L Arch Soc Esp Oftalmol (Engl Ed); 2023 Nov; 98(11):665-669. PubMed ID: 37748682 [TBL] [Abstract][Full Text] [Related]
20. Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). Eksandh L; Ekström U; Abrahamson M; Bauer B; Andréasson S Acta Ophthalmol Scand; 2001 Oct; 79(5):524-30. PubMed ID: 11594993 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]