• Abnormal origin of middle cerebral artery in the basilar artery
• Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)
• Bilateral spinal neurofibromas in patients with neurofibromatosis 1
• Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature
• Corpus callosum tumor as the presenting symptom of neurofibromatosis type 1 in a patient and literature review
• Cutaneous and leptomeningeal hemangiomas with impressive benign evolution
• Cutaneous, mediastinal and hepatic hemangiomas in a girl followed during 12 years
• Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
• Expanding CEP290 mutational spectrum in ciliopathies
• Hand and finger anomalous developmental coordination to write in children with attention deficit/hyperactivity syndrome
• Hemangiomas, and cutaneous and intracranial vascular deformations (Pascual-Castroviejo syndrome tipe II ). A case report
• Joint presentation of facial hemangioma, posterior fossa malformation, and carotid-vertebral hypoplasia (Pascual-Castroviejo syndrome II): report of 2 new cases
• Major and minor arterial malformations in patients with cutaneous vascular abnormalities
• Neurosurgical treatment of tuberous sclerosis complex lesions
• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
• Pascual-Castroviejo syndrome II: Association of facial hemangioma, posterior fossa malformation and congenital heart defect
• Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
• Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome
• Rhombencephalic synapsis
• Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report
• Sturge-Weber syndrome: study of 55 patients
• Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia