Carla Fernandez

Summary

Country: France

Publications

  1. ncbi 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 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 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 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 A rare case of a calcified glomus tumour in the thigh of an adolescent
    Alexia Dabadie
    Department of Pediatric Radiology, University Hospital La Timone Enfants, Marseille, 264, rue Saint Pierre, 13385, Marseille, France
    Pediatr Radiol 43:1045-8. 2013
  6. ncbi 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
  7. doi 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
  8. ncbi 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

Publications8

  1. ncbi 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 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 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 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 A rare case of a calcified glomus tumour in the thigh of an adolescent
    Alexia Dabadie
    Department of Pediatric Radiology, University Hospital La Timone Enfants, Marseille, 264, rue Saint Pierre, 13385, Marseille, France
    Pediatr Radiol 43:1045-8. 2013
    ..This clinical and radiologic presentation is particularly uncommon for a glomus tumour, which enriches the range of differential diagnoses of calcified masses in soft tissue...
  6. ncbi 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)...
  7. doi 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%...
  8. ncbi 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...