Search Results - "Mignon‐Ravix, C."

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion by Cardoso, C, Boys, A, Parrini, E, Mignon-Ravix, C, McMahon, J M, Khantane, S, Bertini, E, Pallesi, E, Missirian, C, Zuffardi, O, Novara, F, Villard, L, Giglio, S, Chabrol, B, Slater, H R, Moncla, A, Scheffer, I E, Guerrini, R

“…Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral…”
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Intrachromosomal triplication for the distal part of chromosome 15q by Schluth, C., Mattei, M. G., Mignon‐Ravix, C., Salman, S., Alembik, Y., Willig, J., Ginglinger, E., Jeandidier, E.

“…We report the case of a boy whose karyotype at birth showed additional material on one chromosome 15. He underwent treatment for unilateral nephroblastoma at 6…”
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Early-onset epileptic encephalopathies with “suppression-burst” EEG pattern: Genetic characterization of a European cohort of 70 patients by Riccardi, F, Cacciagli, P, Lacoste, C, Mignon Ravix, C, Nagara, M, Villard, L, Milh, M

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PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase by Luciani, J.J, Depetris, D, Usson, Y, Metzler-Guillemain, C, Mignon-Ravix, C, Mitchell, M.J, Megarbane, A, Sarda, P, Sirma, H, Moncla, A, Feunteun, J, Mattei, M.-G

“…We have recently demonstrated that heterochromatin HP1 proteins are aberrantly distributed in lymphocytes of patients with immunodeficiency, centromeric…”
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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations by Luciani, J J, de Mas, P, Depetris, D, Mignon-Ravix, C, Bottani, A, Prieur, M, Jonveaux, P, Philippe, A, Bourrouillou, G, de Martinville, B, Delobel, B, Vallee, L, Croquette, M-F, Mattei, M-G

“…Among the three deleted genes, it has been suggested that ProSAP2/SHANK3 is involved in the severe language impairment that characterises the 22q13 deletion…”
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Maternally inherited duplication of the possible imprinted 14q31 region by Mignon-Ravix, Cécile, Mugneret, Francine, Stavropoulou, Christiana, Depetris, Danielle, Van Kien, Philippe Khau, Mattei, Marie-Geneviève

“…[...]the imprinted genes could be located outside the 14q24.3-q31 interval. [...]the imprinted genes could be located in band 14q24.3 and not in band 14q31…”
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Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia by Mignon-Ravix, Cécile, Cacciagli, Pierre, El-Waly, Bilal, Moncla, Anne, Milh, Mathieu, Girard, Nadine, Chabrol, Brigitte, Philip, Nicole, Villard, Laurent

“…Malformations of cortical development are not rare and cause a wide spectrum of neurological diseases based on the affected region in the cerebral cortex. A…”
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XNP-1/ATR-X acts with RB, HP1 and the NuRD complex during larval development in C. elegans by Cardoso, Carlos, Couillault, Carole, Mignon-Ravix, Cecile, Millet, Anne, Ewbank, Jonathan J., Fontés, Michel, Pujol, Nathalie

“…Mutations in the XNP/ATR-X gene cause several X-linked mental retardation syndromes in humans. The XNP/ATR-X gene encodes a DNA-helicase belonging to the SNF2…”
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Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion by CARDOSO, C, BOYS, A, NOVARA, F, VILLARD, L, GIGLIO, S, CHABROL, B, SLATER, H. R, MONCLA, A, SCHEFFER, I. E, GUERRINI, R, PARRINI, E, MIGNON-RAVIX, C, MCMAHON, J. M, KHANTANE, S, BERTINI, E, PALLESI, E, MISSIRIAN, C, ZUFFARDI, O

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Subcellular distribution of HP1 proteins is altered in ICF syndrome by LUCIANI, Judith J, DEPETRIS, Danielle, MISSIRIAN, Chantal, MIGNON-RAVIX, Cécile, METZLER-GUILLEMAIN, Catherine, MEGARBANE, André, MONCLA, Anne, MATTEI, Marie-Geneviève

“…The Immunodeficiency, Centromeric instability, and Facial (ICF) syndrome is a rare autosomal recessive disorder that results from mutations in the DNMT3B gene,…”
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P163 - Étude des déterminants génétiques des encéphalopathies épileptiques précoces : une maladie de la neurotransmission ? by Milh, M., Mignon-Ravix, C., Cacciagli, P., Villeneuve, N., Chabrol, B., Villard, L.

“…Les encéphalopathies épileptiques précoces (EEP) constituent un groupe hétérogène de maladies du développement, dont les points communs sont : - une épilepsie…”
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A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins by Mignon-Ravix, Cécile, Depetris, Danielle, Delobel, Bruno, Croquette, Marie-Françoise, Mattei, Marie-Geneviève

“…Mammalian telomeres are composed of long arrays of TTAGGG repeats that form a nucleoprotein complex which protects the chromosome ends. Human telomere function…”
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Mechanism of intrachromosomal triplications 15q11‐q13: A new clinical report by Vialard, François, Mignon‐Ravix, Cécile, Parain, Dominique, Depetris, Danielle, Portnoï, Marie‐France, Moirot, Hélène, Mattei, Marie‐Geneviève

“…We describe here a patient with intrachromosomal triplication 15q11‐q13, a rare chromosomal event associated with severe mental retardation and intractable…”
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Intrachromosomal triplication for the distal part of chromosome 15q by Schluth, C., Mattei, M. G., Mignon-Ravix, C., Salman, S., Alembik, Y., Willig, J., Ginglinger, E., Jeandidier, E.

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Maternally inherited duplication of the possible imprinted 14q31 region by Mignon-Ravix, C, Mugneret, F, Stavropoulou, C, Depetris, D, Khau Van Kien, P, Mattei, M G

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