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Journal Abstract Search

183 related items for PubMed ID: 11462243

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  • 2. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5653-61. PubMed ID: 18055816
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  • 6. Mutational analysis and clinical correlation in Leber congenital amaurosis.
    Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH.
    Ophthalmic Genet; 2000 Sep; 21(3):135-50. PubMed ID: 11035546
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  • 9. Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
    Chen Y, Moiseyev G, Takahashi Y, Ma JX.
    FEBS Lett; 2006 Jul 24; 580(17):4200-4. PubMed ID: 16828753
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  • 10. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
    den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2007 Dec 24; 48(12):5690-8. PubMed ID: 18055821
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  • 12. RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.
    Joseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty NS, Uthra S, Kumaramanickavel G.
    J Genet; 2002 Apr 24; 81(1):19-23. PubMed ID: 12357075
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  • 14. Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
    Rivolta C, Berson EL, Dryja TP.
    Hum Mutat; 2001 Dec 24; 18(6):488-98. PubMed ID: 11748842
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  • 15. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
    Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O.
    Ophthalmic Genet; 2006 Mar 24; 27(1):15-20. PubMed ID: 16543197
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  • 17. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
    Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.
    Mol Vis; 2005 Feb 28; 11():152-62. PubMed ID: 15765048
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  • 18. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
    Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A.
    Mol Vis; 2003 Jan 24; 9():14-7. PubMed ID: 12552256
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  • 19. Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene.
    Marcos I, Ruiz A, Borrego S, Antiñolo G.
    Hum Mutat; 2001 Apr 24; 17(4):353. PubMed ID: 11295838
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  • 20. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
    Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.
    Hum Mutat; 2004 Apr 24; 23(4):306-17. PubMed ID: 15024725
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