Loyer MK - Search Results

1

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. Dharmaraj SR, et al. Among authors: loyer mk. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546

2

Visual improvement in Leber congenital amaurosis and the CRX genotype.

Koenekoop RK, Loyer M, Dembinska O, Beneish R. Koenekoop RK, et al. Ophthalmic Genet. 2002 Mar;23(1):49-59. doi: 10.1076/opge.23.1.49.2200. Ophthalmic Genet. 2002. PMID: 11910559

3

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I. Silva E, et al. Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451. Ophthalmic Genet. 2004. PMID: 15512997

4

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

Tucker CL, Ramamurthy V, Pina AL, Loyer M, Dharmaraj S, Li Y, Maumenee IH, Hurley JB, Koenekoop RK. Tucker CL, et al. Mol Vis. 2004 Apr 20;10:297-303. Mol Vis. 2004. PMID: 15123990 Free article.

5

Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.

Koenekoop R, Pina AL, Loyer M, Davidson J, Robitaille J, Maumenee I, Tombran-Tink J. Koenekoop R, et al. Mol Vis. 1999 Jul 2;5:10. Mol Vis. 1999. PMID: 10398730 Free article.

6

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

Piña AL, Baumert U, Loyer M, Koenekoop RK. Piña AL, et al. Mol Vis. 2004 Apr 8;10:265-71. Mol Vis. 2004. PMID: 15094710 Free article.

7

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK. Damji KF, et al. Can J Ophthalmol. 2001 Aug;36(5):252-9. doi: 10.1016/s0008-4182(01)80018-1. Can J Ophthalmol. 2001. PMID: 11548141

8

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.

Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA. Koenekoop RK, et al. Am J Ophthalmol. 2003 Oct;136(4):678-87. doi: 10.1016/s0002-9394(03)00331-3. Am J Ophthalmol. 2003. PMID: 14516808

9

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA. Akerman BR, et al. Am J Hum Genet. 1997 May;60(5):1099-106. Am J Hum Genet. 1997. PMID: 9150157 Free PMC article.

10

Mutations participating in interallelic complementation in propionic acidemia.

Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, Italiano I. Gravel RA, et al. Am J Hum Genet. 1994 Jul;55(1):51-8. Am J Hum Genet. 1994. PMID: 8023851 Free PMC article.

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