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Genetic Counseling/ Testing/ Therapy

Citations 1-10 of 76 total displayed.

Most recent content (1 Jul 2009):

Ophthalmic Molecular Genetics
Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy
Elliott H. Sohn; Peter J. Francis; Jacque L. Duncan; Richard G. Weleber; David A. Saperstein; Donald F. Farrell; Edwin M. Stone
Arch Ophthalmol 2009; 127: 913-920. [Abstract] [Full text] [PDF]  

Past content (since Jan 1999):

Clinical Sciences
Translating Uveal Melanoma Cytogenetics Into Clinical Care
Bertil Damato; Sarah E. Coupland
Arch Ophthalmol 2009; 127: 423-429. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Clinical Utility of the ABCR400 Microarray: Basing a Genetic Service on a Commercial Gene Chip
Lisa J. Roberts; Rajkumar S. Ramesar; Jacquie Greenberg
Arch Ophthalmol 2009; 127: 549-554. [Abstract] [Full text] [PDF]  

Clinical Sciences
Phenotypic Features of Patients With NR2E3 Mutations
Sophia I. Pachydaki; Carolyn C. Klaver; Irene A. Barbazetto; Monique S. Roy; Peter Gouras; Rando Allikmets; Lawrence A. Yannuzzi
Arch Ophthalmol 2009; 127: 71-75. [Abstract] [Full text] [PDF]  

Letters
Genomic Typing of Uveal Melanoma
Bertil Damato; Sarah E. Coupland
Arch Ophthalmol 2009; 127: 113-114. [Extract] [Full text] [PDF]  

Letters
Genomic Typing of Uveal Melanoma—Reply
Dennis M. Robertson
Arch Ophthalmol 2009; 127: 114-a-115-a. [Extract] [Full text] [PDF]  

Letters
Genomic Typing of Uveal Melanoma—Reply
Jerry A. Shields; Carol L. Shields; Miguel Materin; Takami Sato; Arupa Ganguly
Arch Ophthalmol 2009; 127: 114. [Extract] [Full text] [PDF]  

Letters
Genomic Typing of Uveal Melanoma—Reply
Tony Tsai; Joan M. O’Brien
Arch Ophthalmol 2009; 127: 115. [Extract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Phenotypic Expression of a PRPF8 Gene Mutation in a Large African American Family
Saloni Walia; Gerald A. Fishman; Jana Zernant-Rajang; Kairi Raime; Rando Allikmets
Arch Ophthalmol 2008; 126: 1127-1132. [Abstract] [Full text] [PDF]  

Controversies
Cytogenetics in the Management of Uveal Melanoma: Are We There Yet?
Dennis M. Robertson
Arch Ophthalmol 2008; 126: 409-410. [Extract] [Full text] [PDF]  

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