MMG PUBLICATIONS

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Results: 4196  publications found.

Ragusa A, .  et al. 0

Belougne J

Lacombe D
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Sandra, .  et al. 0

Pierre; Mignon-Ravix

Tony; Villard
indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. RESULTS: We screened 149 Lebanese probands with ID/ - issue: as well as regions of homozygosity - volume: that - pages: developmental delay (DD).

Nicolas, .  et al. 0

Ira; Dierssen

Jose I.; Balint
and aberrations in the distribution of this epigenetic mark may be involved in many neurological disorders - issue: Takao K.; Ferrer - volume: Isidre; Esteller - pages: Jean-Christophe; Avila.

, .  et al. 0

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

Mégarbané A

10.1002/ajmg.a.33938
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, .  et al. 0

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Chelly PJ, .  et al. 0

Tardieu PM

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a depressed nasal bridge, .  et al. 0

hypertelorism

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, .  et al. 0

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, .  et al. 0

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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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