about
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaOligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationA novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndromeCloning and characterization of the human V3 pituitary vasopressin receptorPrimary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severityDominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interactionRefined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationSo-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutationCDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancyA gene for non-specific X-linked mental retardation (MRX55) is located in Xp11doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
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hulumtues
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onderzoeker
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հետազոտող
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Cherif Beldjord
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Cherif Beldjord
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