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Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, et al.Neurogenetics|October 20, 2005
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.European Journal of Human Genetics : EJHG|March 1, 1997
Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardationT Bienvenu, H Der-Sarkissian, P Billuart, et al.Cell|March 7, 1998
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndromeV des Portes, J M Pinard, P Billuart, et al.Human Molecular Genetics|June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)V des Portes, F Francis, J M Pinard, et al.American Journal of Medical Genetics|August 18, 2000
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardationT Bienvenu, V des Portes, N McDonell, et al.Human Molecular Genetics|July 21, 1998
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorT Bienvenu, V des Portes, A Saint Martin, et al.Nature|May 15, 1998
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, et al.Journal of Medical Genetics|March 1, 1997
Dominant 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 Xq22V des Portes, J M Pinard, D Smadja, et al.Pageof 8