PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

, .  et al. 0

- issue: - volume: - pages: .

Am J Med Genet A. 2011 Apr, .  et al. 0

Ravel A

10.1002/ajmg.a.33879
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Vanderhasselt T, .  et al. 0

Villard L

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Sutera-Sardo J, .  et al. 0

Borges-Correia A

Lathrop M
- issue: - volume: - pages: Boespflug-Tanguy O.

, .  et al. 0

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Lindsay C., .  et al. 0

David; Klee

Cara M.; Villard
- issue: and epilepsy. Apart from one case series - volume: there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report - pages: de novo truncating variants in WASF1 (Wiskott-Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID).

which was terminated at 35 weeks of gestation in view of suspicion of Walker Warburg syndrome, .  et al. 0

showed a cobblestone-like lissencephaly with a succession of normal

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Ann Neurol. 2010 Dec, .  et al. 0

Neul JL

10.1002/ana.22124
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Villard L, .  et al. 0

Borgatti R

Nava C
Jones G - issue: Johnson D - volume: Firth H - pages: Taylor JC.

Lequin MH, .  et al. 0

Accogli A

Grasshoff U
- issue: Morris-Rosendahl DJ - volume: Mancini GM.;"Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19.";Poulton CJ;Am J Med Genet A;2014;21/05/2014;;;10.1002/ajmg.a.36611 - pages: Verheijen FW.

was only 20% compared to wild-type. No measurable current was recorded in CHO cells expressing Kv7.2(A294V) channel alone. Although the total Kv7.2(A294V) expression was rescued to wild-type levels in cells co-expressing the Kv7.3 subunit, .  et al. 0

the global current density was still reduced by 83% compared to wild-type heteromeric channel. In a configuration mimicking the patients' heterozygous genotype i.e.

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resulting in the partial deletion of WASF1 in monozygotic twins, .  et al. 0

and three missense variants

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the white matter abnormalities showed a peculiar evolution from severe hypomyelination at 4 months to patchy lesions later in childhood. Taken as a, .  et al. 0

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Neurobiol Dis. 2011 Feb, .  et al. 0

Panayotis N

10.1016/j.nbd.2010.10.006
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, .  et al. 0

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Fallet-Bianco C, .  et al. 0

Specchio N

Baulac M
- issue: Beldjord C - volume: Villard L - pages: Soufflet C.

compared to wild-type Kv7.2/Kv7.3. In neurons, .  et al. 0

the p.A294V mutation induced a mislocalization of heteromeric mutant channels to the somato-dendritic compartment

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Valérie, .  et al. 0

Emilie; Seve

a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes
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, .  et al. 0

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Brain. 2010 Nov, .  et al. 0

Bahi-Buisson N

10.1093/brain/awq259
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