Publications by authors named "Cecile Mignon-Ravix"

21Publications

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Eur J Paediatr Neurol 2017 Sep 29;21(5):783-786. Epub 2017 Apr 29.

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:

View Article and Find Full Text PDF
September 2017

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

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.

View Article and Find Full Text PDF
April 2016

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

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.

View Article and Find Full Text PDF
June 2015

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

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.

View Article and Find Full Text PDF
May 2011

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

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

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

View Article and Find Full Text PDF
February 2005