Associated Papers
Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities.
Liaci C et al.
International Journal of Molecular Sciences, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
Zamboni V et al.
International Journal of Molecular Sciences, 2018
Loss of ARHGEF6 Causes Hair Cell Stereocilia Deficits and Hearing Loss in Mice.
Zhu C et al.
Frontiers in Molecular Neuroscience, 2018
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP et al.
Human Mutation, 2007
X linked mental retardation: a clinical guide.
Raymond FL
Journal of Medical Genetics, 2006
Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling.
Rosenberger G et al.
Human Molecular Genetics, 2003
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
Kutsche K et al.
Nature Genetics, 2000
Select a paper to view details