Carla Fernandez

Summary

Country: France

Publications

  1. ncbi request reprint Truncation of NHEJ1 in a patient with polymicrogyria
    Vincent Cantagrel
    INSERM, U491, Faculté de médecine La Timone, Marseille, France
    Hum Mutat 28:356-64. 2007
  2. ncbi request reprint Acrocallosal syndrome in fetus: focus on additional brain abnormalities
    Carla 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
  3. doi request reprint Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations
    Carla 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
  4. doi request reprint Solitary, extracutaneous, skull-based juvenile xanthogranuloma
    Andre 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
  5. ncbi request reprint 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
  6. doi request reprint Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum
    Bema 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
  7. ncbi request reprint Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation
    Céline Fogliarini
    Centre de Resonance Magnetique Biologique et Medicale, Faculté Timone, Marseille, France
    Eur Radiol 15:1781-9. 2005

Collaborators

Detail Information

Publications7

  1. ncbi request reprint Truncation of NHEJ1 in a patient with polymicrogyria
    Vincent 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...
  2. ncbi request reprint Acrocallosal syndrome in fetus: focus on additional brain abnormalities
    Carla 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...
  3. doi request reprint Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations
    Carla 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...
  4. doi request reprint Solitary, extracutaneous, skull-based juvenile xanthogranuloma
    Andre 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...
  5. ncbi request reprint 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)...
  6. doi request reprint Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum
    Bema 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%...
  7. ncbi request reprint Assessment of cortical maturation with prenatal MRI: part II: abnormalities of cortical maturation
    Céline 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...