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.
172 related articles for article (PubMed ID: 12353176)
41. Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. Singh HP; Jalali S; Hejtmancik JF; Kannabiran C Am J Ophthalmol; 2006 May; 141(5):906-13. PubMed ID: 16546111 [TBL] [Abstract][Full Text] [Related]
42. Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. El-Haig WM; Jakobsson C; Favez T; Schorderet DF; Abouzeid H Br J Ophthalmol; 2014 Dec; 98(12):1718-23. PubMed ID: 25091951 [TBL] [Abstract][Full Text] [Related]
43. Retinal astrocytic hamartoma and Stargardt's disease: unusual association in a patient with ABCR mutation without phacomatosis. Bini A; Sodi A; Passerini I; Menchini U; Torricelli F Clin Exp Ophthalmol; 2007 Nov; 35(8):777-9. PubMed ID: 17997789 [TBL] [Abstract][Full Text] [Related]
44. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. Beheshtian M; Saee Rad S; Babanejad M; Mohseni M; Hashemi H; Eshghabadi A; Hajizadeh F; Akbari MR; Kahrizi K; Riazi Esfahani M; Najmabadi H Arch Iran Med; 2015 Nov; 18(11):776-85. PubMed ID: 26497376 [TBL] [Abstract][Full Text] [Related]
45. ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. Chacón-Camacho OF; Granillo-Alvarez M; Ayala-Ramírez R; Zenteno JC Exp Eye Res; 2013 Apr; 109():77-82. PubMed ID: 23419329 [TBL] [Abstract][Full Text] [Related]
46. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Martínez-Mir A; Paloma E; Allikmets R; Ayuso C; del Rio T; Dean M; Vilageliu L; Gonzàlez-Duarte R; Balcells S Nat Genet; 1998 Jan; 18(1):11-2. PubMed ID: 9425888 [No Abstract] [Full Text] [Related]
47. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Wiszniewski W; Zaremba CM; Yatsenko AN; Jamrich M; Wensel TG; Lewis RA; Lupski JR Hum Mol Genet; 2005 Oct; 14(19):2769-78. PubMed ID: 16103129 [TBL] [Abstract][Full Text] [Related]
48. Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Mullins RF; Kuehn MH; Radu RA; Enriquez GS; East JS; Schindler EI; Travis GH; Stone EM Invest Ophthalmol Vis Sci; 2012 Apr; 53(4):1883-94. PubMed ID: 22395892 [TBL] [Abstract][Full Text] [Related]
49. Stargardt's type macular dystrophy associated with retinitis pigmentosa. Charney RE; Kraushar MF; Appel N Ann Ophthalmol; 1982 Feb; 14(2):118-9. PubMed ID: 7092020 [TBL] [Abstract][Full Text] [Related]
50. Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. D'Angelo R; Donato L; Venza I; Scimone C; Aragona P; Sidoti A Int J Mol Med; 2017 Apr; 39(4):1011-1020. PubMed ID: 28290600 [TBL] [Abstract][Full Text] [Related]
51. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Rosenfeld PJ; Cowley GS; McGee TL; Sandberg MA; Berson EL; Dryja TP Nat Genet; 1992 Jun; 1(3):209-13. PubMed ID: 1303237 [TBL] [Abstract][Full Text] [Related]
52. Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy. Ducroq D; Shalev S; Habib A; Munnich A; Kaplan J; Rozet JM Eur J Hum Genet; 2006 Dec; 14(12):1269-73. PubMed ID: 16896346 [TBL] [Abstract][Full Text] [Related]
53. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Riazuddin SA; Zulfiqar F; Zhang Q; Sergeev YV; Qazi ZA; Husnain T; Caruso R; Riazuddin S; Sieving PA; Hejtmancik JF Invest Ophthalmol Vis Sci; 2005 Jul; 46(7):2264-70. PubMed ID: 15980210 [TBL] [Abstract][Full Text] [Related]
54. Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Gerth C; Andrassi-Darida M; Bock M; Preising MN; Weber BH; Lorenz B Graefes Arch Clin Exp Ophthalmol; 2002 Aug; 240(8):628-38. PubMed ID: 12192456 [TBL] [Abstract][Full Text] [Related]
55. Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. Ravesh Z; El Asrag ME; Weisschuh N; McKibbin M; Reuter P; Watson CM; Baumann B; Poulter JA; Sajid S; Panagiotou ES; O'Sullivan J; Abdelhamed Z; Bonin M; Soltanifar M; Black GC; Amin-ud Din M; Toomes C; Ansar M; Inglehearn CF; Wissinger B; Ali M Mol Vis; 2015; 21():236-43. PubMed ID: 25802487 [TBL] [Abstract][Full Text] [Related]
56. Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Paloma E; Coco R; Martínez-Mir A; Vilageliu L; Balcells S; Gonzàlez-Duarte R Hum Mutat; 2002 Dec; 20(6):476. PubMed ID: 12442277 [TBL] [Abstract][Full Text] [Related]
57. Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. Aguirre-Lamban J; González-Aguilera JJ; Riveiro-Alvarez R; Cantalapiedra D; Avila-Fernandez A; Villaverde-Montero C; Corton M; Blanco-Kelly F; Garcia-Sandoval B; Ayuso C Invest Ophthalmol Vis Sci; 2011 Aug; 52(9):6206-12. PubMed ID: 21330655 [TBL] [Abstract][Full Text] [Related]
58. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene. Shifera AS; Kay CN Ophthalmic Genet; 2015; 36(3):251-6. PubMed ID: 24428633 [TBL] [Abstract][Full Text] [Related]
59. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. Eidinger O; Leibu R; Newman H; Rizel L; Perlman I; Ben-Yosef T Mol Vis; 2015; 21():1295-306. PubMed ID: 26702251 [TBL] [Abstract][Full Text] [Related]
60. Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. Beit-Ya'acov A; Mizrahi-Meissonnier L; Obolensky A; Landau C; Blumenfeld A; Rosenmann A; Banin E; Sharon D Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4308-14. PubMed ID: 17724221 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]