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Genetic Counseling/ Testing/ Therapy

Citations 41-50 of 77 total displayed.

Past content (since Jan 1999):

Clinical Sciences
Acanthamoeba Keratitis in Non–Contact Lens Wearers in India: DNA Typing–Based Validation and a Simple Detection Assay
Savitri Sharma; Gunisha Pasricha; Debashish Das; Ramesh K. Aggarwal
Arch Ophthalmol 2004; 122: 1430-1434. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations
Sharola Dharmaraj; Bart P. Leroy; Melanie M. Sohocki; Robert K. Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R. Summathi Devi; David G. Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Mohammad Ismail; Annette M. Payne; Graham E. Holder; Shomi S. Bhattacharya; Alan C. Bird; Josseline Kaplan; Irene H. Maumenee
Arch Ophthalmol 2004; 122: 1029-1037. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
X-Linked High Myopia Associated With Cone Dysfunction
Terri L. Young; Samir S. Deeb; Shawn M. Ronan; Andrew T. Dewan; Alison B. Alvear; Genaro S. Scavello; Prasuna C. Paluru; Marcia S. Brott; Takaaki Hayashi; Ann M. Holleschau; Nancy Benegas; Marianne Schwartz; Larry D. Atwood; William S. Oetting; Thomas Rosenberg; Arno G. Motulsky; Richard A. King
Arch Ophthalmol 2004; 122: 897-908. [Abstract] [Full text] [PDF]  

Laboratory Sciences
Rapid Identification of Germline Mutations in Retinoblastoma by Protein Truncation Testing
Tony Tsai; Lilia Fulton; Barbara J. Smith; Rachel L. Mueller; Gustavo A. Gonzalez; Marita S. Uusitalo; Joan M. O'Brien
Arch Ophthalmol 2004; 122: 239-248. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Diagnosis of Microsporidia Keratitis by Polymerase Chain Reaction
Michael S. Conners; Terri S. Gibler; Russell N. Van Gelder
Arch Ophthalmol 2004; 122: 283-284. [Extract] [Full text] [PDF]  

Clinical Sciences
Detection of Histoplasma capsulatum DNA in Lesions of Chronic Ocular Histoplasmosis Syndrome
William H. Spencer; Chi-Chao Chan; De Fen Shen; Narsing A. Rao
Arch Ophthalmol 2003; 121: 1551-1555. [Abstract] [Full text] [PDF]  

Clinical Sciences
Clinical Description and Exclusion of Candidate Genes in a Novel Autosomal Recessively Inherited Vitreoretinal Dystrophy
Gian-Marco Sarra; Maike Weigell-Weber; Dieter Kotzot; Günter Niemeyer; Elmar Messmer; Martin Hergersberg
Arch Ophthalmol 2003; 121: 1109-1116. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Genomewide Homozygosity Mapping and Molecular Analysis of a Candidate Gene Located on 22q13 (Fibulin-1) in a Previously Undescribed Vitreoretinal Dystrophy
Maike Weigell-Weber; Gian-Marco Sarra; Dieter Kotzot; Lodewijk Sandkuijl; Elmar Messmer; Martin Hergersberg
Arch Ophthalmol 2003; 121: 1184-1188. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Retinal and Optic Disc Atrophy Associated With a CACNA1F Mutation in a Japanese Family
Makoto Nakamura; Sei Ito; Chang-Hua Piao; Hiroko Terasaki; Yozo Miyake
Arch Ophthalmol 2003; 121: 1028-1033. [Abstract] [Full text] [PDF]  

Clinical Sciences
Retinal Function in Carriers of Bardet-Biedl Syndrome
Gerald F. Cox; Ronald M. Hansen; Nicole Quinn; Anne B. Fulton
Arch Ophthalmol 2003; 121: 804-810. [Abstract] [Full text] [PDF]  

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