A. Pinckers

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Uwe Schwahn, Steffen Lenzner, Juan Dong et al. · Nature Genetics · 1998 · 382 citations

Life Sciences, Genetics, Molecular Genetics +7

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

Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol et al. · The American Journal of Human Genetics · 1999 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Carsten M. Pusch, Christina Zeitz, Oliver Brandau et al. · Nature Genetics · 2000 · 260 citations

Medicine, Genetics, Molecular Genetics +13

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello et al. · The American Journal of Human Genetics · 1998 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

JUVENILE DIABETES MELLITUS, OPTIC ATROPHY, HEARING LOSS, DIABETES INSIPIDUS, ATONIA OF THE URINARY TRACT AND BLADDER, AND OTHER ABNORMALITIES (WOLFRAM SYNDROME)

Cor W. R. J. Cremers, Paul G. A. B. Wijdeveld, A. Pinckers · Acta Paediatrica · 1977 · 146 citations

Medicine, Endocrinology, Neurology +13