Publications by authors named "Pierre Cacciagli"

23Publications

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:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.001DOI Listing
September 2017

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.

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http://dx.doi.org/10.1186/s13039-015-0149-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469107PMC
June 2015

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Am J Med Genet A 2015 Oct 10;167A(10):2314-8. Epub 2015 May 10.

Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37152DOI Listing
October 2015

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

Epilepsy Res 2015 Mar 25;111:72-7. Epub 2015 Jan 25.

Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France; Université Lyon 1, Lyon, France; Neurophysiology and Epilepsy Unit, Neurological Hospital P. Wertheimer, Hospices Civils de Lyon, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2015.01.008DOI Listing
March 2015

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Eur J Hum Genet 2014 Mar 12;22(3):363-8. Epub 2013 Jun 12.

1] Inserm, U910, Faculté de Médecine de La Timone, Marseille, France [2] Aix Marseille Université, Faculté de Médecine, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2013.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925263PMC
March 2014

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

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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http://dx.doi.org/10.1016/j.ejmg.2009.04.002DOI Listing
November 2009