Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

Andreas Gal, Yun Li, Debra A. Thompson, +5

Nature Genetics

Ocular DiseaseRetinaPhotoreceptor CellOphthalmologyGenetics +5

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Kerstin Kutsche, Helger G. Yntema, Alexander Brandt, +12

Nature Genetics

Exchange FactorMendelian DisorderRho GtpasesGenetic DisorderGenetics +7

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

Andreas Gal, Ulrike Orth, Wolfgang Baehr, +2

Nature Genetics

Ocular DiseaseMolecular NeuroscienceRetinaOphthalmologyPhotoreceptor Cell +9

Human monoamine oxidase A and B genes map to xp11.23 and are deleted in a patient with norrie disease

Nancy C. Lan, Camilla Heinzmann, Andreas Gal, +7

Genomics

Neurodegenerative DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +7

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

Isabella Wimplinger, Manuela Morleo, Georg Rosenberger, +8

The American Journal of Human Genetics

Skin DevelopmentMendelian DisorderGenetic DisorderCutaneous BiologyGenetics +6

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation

J. Seidel, Simone Schiller, Christina Kelbova, +6

Clinical Genetics

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22

M. M�chler, Daniel Frey, A. Gal, +4

Human Genetics

Dna Markers Dxs41Genetic DisorderNatural SciencesGeneticsMolecular Biology +6

Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome

Isabella Wimplinger, Anita Rauch, Ulrike Orth, +3

European Journal of Medical Genetics

High Clinical VariabilityTerminal Xp DeletionGenetic DisorderLinear Skin DefectsPathology +2

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

Andreas Gal, A. Schinzel, Ulrike Orth, +7

Human Genetics

Developmental BiologyCytogeneticsGenetic DisorderGeneticsGenetic Mechanism +3

Seventeen novel<i>PLP1</i>mutations in patients with Pelizaeus-Merzbacher disease

Christian A. Hübner, Ulrike Orth, Å. Senning, +4

Human Mutation

Rare DiseasesNeurodegenerative DiseasesMendelian DisorderGenetic DisorderMedicine +11