A. Pinckers
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Glaucoma and retinal disorders, RNA regulation and disease, Intraocular Surgery and Lenses
Most-Cited Works
- → Positional cloning of the gene for X-linked retinitis pigmentosa 2(1998)382 cited
- → The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease(1999)260 cited
- → The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein(2000)259 cited
- → Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity(1998)161 cited
- → JUVENILE DIABETES MELLITUS, OPTIC ATROPHY, HEARING LOSS, DIABETES INSIPIDUS, ATONIA OF THE URINARY TRACT AND BLADDER, AND OTHER ABNORMALITIES (WOLFRAM SYNDROME)(1977)146 cited
- → Localizaion of the gene for dominant cystoid macular dystrophy on chromosome 7p(1994)113 cited
- → Improved vision after intravenous immunoglobulin in stable demyelinating optic neuritis(1992)91 cited
- → Color Vision and Age(1980)90 cited
- → Ocular and Systemic Manifestations of Cerebrotendinous Xanthomatosis(1995)77 cited
- Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.(1990)