283 related articles for article (PubMed ID: 10615133)
41. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Ahmad A; Daud S; Kakar N; Nürnberg G; Nürnberg P; Babar ME; Thoenes M; Kubisch C; Ahmad J; Bolz HJ
Mol Vis; 2011; 17():1940-5. PubMed ID: 21850168
[TBL] [Abstract][Full Text] [Related]
42. Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P; Vijayalakshmi P; Thompson S; Ko AC; Fingert JH; Stone EM
Mol Vis; 2009 Sep; 15():1781-7. PubMed ID: 19753312
[TBL] [Abstract][Full Text] [Related]
43. The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.
Sacristan-Reviriego A; van der Spuy J
Adv Exp Med Biol; 2018; 1074():381-386. PubMed ID: 29721967
[TBL] [Abstract][Full Text] [Related]
44. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J; Külm M; Dharmaraj S; den Hollander AI; Perrault I; Preising MN; Lorenz B; Kaplan J; Cremers FP; Maumenee I; Koenekoop RK; Allikmets R
Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3052-9. PubMed ID: 16123401
[TBL] [Abstract][Full Text] [Related]
45. Mutation screening of Pakistani families with congenital eye disorders.
Khaliq S; Abid A; Hameed A; Anwar K; Mohyuddin A; Azmat Z; Shami SA; Ismail M; Mehdi SQ
Exp Eye Res; 2003 Mar; 76(3):343-8. PubMed ID: 12573663
[TBL] [Abstract][Full Text] [Related]
46. AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.
Li D; Jin C; Jiao X; Li L; Bushra T; Naeem MA; Butt NH; Husnain T; Sieving PA; Riazuddin S; Riazuddin SA; Hejtmancik JF
Mol Vis; 2014; 20():1-14. PubMed ID: 24426771
[TBL] [Abstract][Full Text] [Related]
47. Retinopathy and attenuated circadian entrainment in Crx-deficient mice.
Furukawa T; Morrow EM; Li T; Davis FC; Cepko CL
Nat Genet; 1999 Dec; 23(4):466-70. PubMed ID: 10581037
[TBL] [Abstract][Full Text] [Related]
48. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
Rozet JM; Perrault I; Gerber S; Hanein S; Barbet F; Ducroq D; Souied E; Munnich A; Kaplan J
Invest Ophthalmol Vis Sci; 2001 May; 42(6):1190-2. PubMed ID: 11328726
[TBL] [Abstract][Full Text] [Related]
49. The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.
van der Spuy J; Chapple JP; Clark BJ; Luthert PJ; Sethi CS; Cheetham ME
Hum Mol Genet; 2002 Apr; 11(7):823-31. PubMed ID: 11929855
[TBL] [Abstract][Full Text] [Related]
50. Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
Caruso RC; Aleman TS; Cideciyan AV; Roman AJ; Sumaroka A; Mullins CL; Boye SL; Hauswirth WW; Jacobson SG
Invest Ophthalmol Vis Sci; 2010 Oct; 51(10):5304-13. PubMed ID: 20484585
[TBL] [Abstract][Full Text] [Related]
51. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Mataftsi A; Schorderet DF; Chachoua L; Boussalah M; Nouri MT; Barthelmes D; Borruat FX; Munier FL
Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
[TBL] [Abstract][Full Text] [Related]
52. IQCB1 mutations in patients with leber congenital amaurosis.
Estrada-Cuzcano A; Koenekoop RK; Coppieters F; Kohl S; Lopez I; Collin RW; De Baere EB; Roeleveld D; Marek J; Bernd A; Rohrschneider K; van den Born LI; Meire F; Maumenee IH; Jacobson SG; Hoyng CB; Zrenner E; Cremers FP; den Hollander AI
Invest Ophthalmol Vis Sci; 2011 Feb; 52(2):834-9. PubMed ID: 20881296
[TBL] [Abstract][Full Text] [Related]
53. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC; Florijn RJ; ten Brink JB; Loves W; Meire F; van Schooneveld MJ; de Jong PT; Bergen AA
J Med Genet; 2005 Nov; 42(11):e67. PubMed ID: 16272259
[TBL] [Abstract][Full Text] [Related]
54. Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).
Weleber RG
Ophthalmic Genet; 2002 Jun; 23(2):71-97. PubMed ID: 12187427
[TBL] [Abstract][Full Text] [Related]
55. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW; Pott JW; Collin RW; Kroes HY; Verheij JB; Blokland EA; de Castro Miró M; Hoyng CB; Klaver CC; Koenekoop RK; Rohrschneider K; Cremers FP; van den Born LI; den Hollander AI
Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3646-52. PubMed ID: 20130272
[TBL] [Abstract][Full Text] [Related]
56. Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.
Rezaie T; Karimi-Nejad MH; Meshkat MR; Sohbati S; Karimi-Nejad R; Najmabadi H; Sarfarazi M
Ophthalmic Genet; 2007 Dec; 28(4):224-8. PubMed ID: 18161624
[TBL] [Abstract][Full Text] [Related]
57. A Novel
Gumus E; Ozgur A
Fetal Pediatr Pathol; 2020 Jun; 39(3):251-258. PubMed ID: 31342828
[No Abstract] [Full Text] [Related]
58. Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.
Banin E; Bandah-Rozenfeld D; Obolensky A; Cideciyan AV; Aleman TS; Marks-Ohana D; Sela M; Boye S; Sumaroka A; Roman AJ; Schwartz SB; Hauswirth WW; Jacobson SG; Hemo I; Sharon D
Hum Gene Ther; 2010 Dec; 21(12):1749-57. PubMed ID: 20604683
[TBL] [Abstract][Full Text] [Related]
59. Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.
Ramamurthy V; Niemi GA; Reh TA; Hurley JB
Proc Natl Acad Sci U S A; 2004 Sep; 101(38):13897-902. PubMed ID: 15365178
[TBL] [Abstract][Full Text] [Related]
60. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Gu SM; Thompson DA; Srikumari CR; Lorenz B; Finckh U; Nicoletti A; Murthy KR; Rathmann M; Kumaramanickavel G; Denton MJ; Gal A
Nat Genet; 1997 Oct; 17(2):194-7. PubMed ID: 9326941
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
