Cecile Mignon-Ravix

APHM, Department of Pediatric Neurology, Hopital de la Timone, Marseille, France; AIx Marseille univ, INSERM, GMGF, UMR_S 910, Faculté de médecine, Marseille, France. Electronic address:

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September 2017

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

Authors:

Affef Abidi Cécile Mignon-Ravix Pierre Cacciagli Nadine Girard Mathieu Milh Laurent Villard

Eur J Hum Genet 2016 Apr 15;24(4):615-8. Epub 2015 Jul 15.

Inserm, UMR_S 910, Faculté de Médecine de La Timone, Marseille, France.

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April 2016

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.

Authors:

Nancy Choucair Cecile Mignon-Ravix Pierre Cacciagli Joelle Abou Ghoch Ali Fawaz André Mégarbané Laurent Villard Eliane Chouery

Mol Cytogenet 2015 16;8:39. Epub 2015 Jun 16.

Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, rue de Damas B.P. 17-5208 Mar Mikhael, Beyrouth, 11042020 Lebanon.

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June 2015

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Authors:

Nancy Choucair Joelle Abou Ghoch Sandra Corbani Pierre Cacciagli Cecile Mignon-Ravix Nabiha Salem Nadine Jalkh Sandra El Sabbagh Ali Fawaz Tony Ibrahim Laurent Villard André Mégarbané Eliane Chouery

Mol Cytogenet 2015 9;8:26. Epub 2015 Apr 9.

Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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April 2015

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Authors:

Cécile Mignon-Ravix Pierre Cacciagli Nancy Choucair Cornel Popovici Chantal Missirian Mathieu Milh André Mégarbané Tiffany Busa Sophie Julia Nadine Girard Catherine Badens Sabine Sigaudy Nicole Philip Laurent Villard

Am J Med Genet A 2014 Aug 9;164A(8):1991-7. Epub 2014 May 9.

Inserm, UMR_S 910, Marseille, France; Aix Marseille Université, GMGF, Marseille, France.

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August 2014

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

Authors:

Mathieu Milh Nathalie Villeneuve Mondher Chouchane Anna Kaminska Cécile Laroche Marie Anne Barthez Cyril Gitiaux Céline Bartoli Ana Borges-Correia Pierre Cacciagli Cécile Mignon-Ravix Hélène Cuberos Brigitte Chabrol Laurent Villard

Epilepsia 2011 Oct 19;52(10):1828-34. Epub 2011 Jul 19.

APHM, CINAPSE, Pediatric Neurology Department, Timone Children Hospital, Marseille, France.

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October 2011

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.

Authors:

André Mégarbané Eliane Chouery Cécile Mignon-Ravix Sandra El Sabbagh Sandra Corbani Joelle Abou Ghoch Nadine Jalkh Cybel Mehawej Nicolas Lévy Laurent Villard

Am J Med Genet A 2011 May 4;155A(5):1147-51. Epub 2011 Apr 4.

Unité de Génétique Médicale et Laboratoire Associé INSERM UMR_S, Université Saint-Joseph, Beirut, Lebanon.

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May 2011

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Authors:

Pierre Cacciagli Marie-Reine Haddad Cécile Mignon-Ravix Bilal El-Waly Anne Moncla Chantal Missirian Brigitte Chabrol Laurent Villard

Eur J Hum Genet 2010 Dec 4;18(12):1360-3. Epub 2010 Aug 4.

Département de Génétique Médicale, Hôpital d'Enfants de La Timone, Marseille, France.

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December 2010

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Authors:

Cécile Mignon-Ravix Pierre Cacciagli Bilal El-Waly Anne Moncla Mathieu Milh Nadine Girard Brigitte Chabrol Nicole Philip Laurent Villard

J Med Genet 2010 Feb 26;47(2):132-6. Epub 2009 Jul 26.

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February 2010

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Authors:

Marie-Reine Haddad Cécile Mignon-Ravix Pierre Cacciagli André Mégarbané Laurent Villard

Eur J Med Genet 2009 Jul-Aug;52(4):211-7. Epub 2009 Apr 18.

INSERM U910, faculté de médecine de la Timone, Marseille, France.

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November 2009

In human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatin.

Authors:

Catherine Metzler-Guillemain Danielle Depetris Judith J Luciani Cecile Mignon-Ravix Michael J Mitchell Marie-Genevieve Mattei

Chromosome Res 2008 4;16(5):761-82. Epub 2008 Jul 4.

INSERM U910, Faculté de Médecine, 27 Boulevard Jean Moulin, Marseille, France.

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December 2008

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Authors:

Cécile Mignon-Ravix Danielle Depetris Judith J Luciani Cristina Cuoco Malgorzata Krajewska-Walasek Chantal Missirian Patrick Collignon Bruno Delobel Marie-Françoise Croquette Anne Moncla Peter M Kroisel Marie-Geneviève Mattei

Eur J Hum Genet 2007 Apr 31;15(4):432-40. Epub 2007 Jan 31.

INSERM U491, Université de la Méditerranée, Faculté de Médecine de la Timone, Marseille, France.

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April 2007

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.

Authors:

Judith J Luciani Danielle Depetris Yves Usson Catherine Metzler-Guillemain Cecile Mignon-Ravix Micheal J Mitchell Andre Megarbane Pierre Sarda Huseyin Sirma Anne Moncla Jean Feunteun Marie-Genevieve Mattei

J Cell Sci 2006 Jun 30;119(Pt 12):2518-31. Epub 2006 May 30.

Inserm, Université de la Méditerranée, UMR491, Faculté de Médecine, 27 Boulevard Jean Moulin, 13385 Marseille, France.

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June 2006

XNP-1/ATR-X acts with RB, HP1 and the NuRD complex during larval development in C. elegans.

Authors:

Carlos Cardoso Carole Couillault Cecile Mignon-Ravix Anne Millet Jonathan J Ewbank Michel Fontés Nathalie Pujol

Dev Biol 2005 Feb;278(1):49-59

INSERM U491, Faculté de Médecine la Timone, 27, Bd Jean Moulin, 13385 Marseille Cedex 5, France.

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February 2005

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

Authors:

Judith J Luciani Danielle Depetris Chantal Missirian Cécile Mignon-Ravix Catherine Metzler-Guillemain André Megarbane Anne Moncla Marie-Geneviève Mattei

Eur J Hum Genet 2005 Jan;13(1):41-51

Inserm U 491, Faculté de Médecine, Marseille, France.

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January 2005

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

Authors:

François Vialard Cécile Mignon-Ravix Dominique Parain Danielle Depetris Marie-France Portnoï Hélène Moirot Marie-Geneviève Mattei

Am J Med Genet A 2003 Apr;118A(3):229-34

Laboratoire de Cytogénétique, CHU de Rouen, Rouen, France.

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April 2003

A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins.

Authors:

Cécile Mignon-Ravix Danielle Depetris Bruno Delobel Marie-Françoise Croquette Marie-Geneviève Mattei

Eur J Hum Genet 2002 Feb;10(2):107-12

INSERM 491, Faculté de Médecine Timone, Marseille, France.

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February 2002

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