V des Portes - JoVE Visualize

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Neurology|August 18, 2010

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.

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.

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.

Clinical Genetics|October 19, 2010

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.

Journal of Medical Genetics|July 10, 2007

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, 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.

Neuroimage|August 10, 2014

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrificationD Germanaud, J Lefèvre, C Fischer, 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.

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Showing results (31-40 of 48) with videos related to

Sort By:

Pageof 5

Neurology|August 18, 2010

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.

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.

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.

Clinical Genetics|October 19, 2010

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated malesD Germanaud, M Rossi, G Bussy, et al.

Journal of Medical Genetics|July 10, 2007

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, 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.

Neuroimage|August 10, 2014

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrificationD Germanaud, J Lefèvre, C Fischer, 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.

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