PUBLICATIONS of MMG

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Résultats : 4197  publications trouvées.

, .  et al. 0

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Am J Med Genet A. 2014 Sep, .  et al. 0

Poulton CJ

10.1002/ajmg.a.36611
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Spasic-Boskovic O, .  et al. 0

Tejada MI

Friend K
Keavney B - issue: Floyd JA - volume: Bentham J - pages: Stevenson R.

Kaminska A, .  et al. 0

Laroche C

Mignon-Ravix C
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Pierre, .  et al. 0

André; Villard

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Nicolas, .  et al. 0

Philippe; Koller

Christoph; Briel
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Am J Med Genet A. 2014 Aug, .  et al. 0

Mignon-Ravix C

10.1002/ajmg.a.36602
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Ghata A, .  et al. 0

Villard L

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Laurent, .  et al. 0

Jean-Christophe";Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain;BMC neuroscience;;1471-2202;10.1186/1471-2202-12-47;;BACKGROUND: Rett syndrome (RTT

revealed morphological and functional alterations of neurons. Several functions that are regulated by bioaminergic nuclei or peripheral ganglia are impaired in the absence of Mecp2. RESULTS: Using...
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at least in the tissue tested. Our data suggest that FER is not implicated in the mental retardation phenotype observed in the reported patient. Therefore the MR phenotype might not be caused by the translocation.", .  et al. 0

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PLoS One. 2014 Mar 25, .  et al. 0

El-Khoury R

10.1371/journal.pone.0092169
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bone malformations, .  et al. 0

and early death: a distinct MCA/MR syndrome;Mégarbané A

Jalkh N
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Nicolas, .  et al. 0

Violaine; Fontes

an X-linked progressive encephalopathy. We have collected the results of MECP2 analysis conducted in four laboratories in France. A total of 301 RTT alleles have been analyzed
- issue: - volume: - pages: and R306C (6.8%). Only 10 mutations had a relative frequency > 2%. A total of 59 mutations were found in a small number of RTT alleles (from 1 to 2). These data demonstrate th.

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Am J Hum Genet. 2013 Sep 5, .  et al. 0

Cacciagli P

10.1016/j.ajhg.2013.07.023
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