- Truncation of NHEJ1 in a patient with polymicrogyriaVincent Cantagrel
INSERM, U491, Faculté de médecine La Timone, Marseille, France
Hum Mutat 28:356-64. 2007..The association of PMG with the disruption of its transcript suggests that, in addition to its recently uncovered function in the immune system, the NHEJ1 protein may also play a role during development of the human cerebral cortex...
- Acrocallosal syndrome in fetus: focus on additional brain abnormalitiesCarla Fernandez
Laboratoire d Anatomie Pathologique et Neuropathologie, Hopital de la Timone Adultes, 264 rue Saint Pierre, 13385, Marseille Cedex 05, France
Acta Neuropathol 115:151-6. 2008..We hope that these new data will make both the ante- and post-natal diagnosis easier, facilitate comparisons with animal models and encourage the identification of the genes responsible for this syndrome...
- Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutationsCarla Fernandez
Laboratoire d Anatomie Pathologique et Neuropathologie, Hopital de la Timone Adultes, 264 rue Saint Pierre, 13385 Marseille Cedex 05, France
Muscle Nerve 41:269-71. 2010..H188P, c.563A>C) and a severe mutation in intron 5 (c.691+2T>C). We propose that the genotype and the quality of medical care may account for the severe but non-lethal phenotype...
- Solitary, extracutaneous, skull-based juvenile xanthogranulomaAndre Maues de Paula
Department of Anatomic Pathology and Neuropathology, 264 rue Saint Pierre, Centre Hospitalier Universitaire La Timone, 13005 Marseille, France
Pediatr Blood Cancer 55:380-2. 2010..Partial surgical resection, chemotherapy, and conformational radiotherapy were used. Exclusive extracutaneous JXG with an intracranial, vertebral, or skull-based localization is extremely rare...
- Search for distinctive markers in DNT and cortical grade II glioma in children: same clinicopathological and molecular entities?Laetitia Padovani
INSERM, UMR 911, Marseille, F 13000, France
Curr Top Med Chem 12:1683-92. 2012..Pathological diagnosis is easy when the glioneuronal element is present. Its absence might lead to the diagnosis of non-specific DNT or low-grade glioma (LGG)...
- Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrumBema Coulibaly
Laboratoire d Anatomie Pathologique et Neuropathologie, Assistance Publique Hopitaux de Marseille, Hopital La Timone, Marseille, France
Eur J Med Genet 53:318-21. 2010..In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%...
- Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturationCéline Fogliarini
Centre de Resonance Magnetique Biologique et Medicale, Faculté Timone, Marseille, France
Eur Radiol 15:1781-9. 2005..Analysis of the different abnormalities of cortical maturation is given with illustrations of the principal malformations encountered in utero and accessible to MRI...