Publicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (21)

2024

  1. Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

    American Journal of Medical Genetics, Part A, Vol. 194, Núm. 2, pp. 211-217

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

2022

  1. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884

  2. Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability

    Small GTPases, Vol. 13, Núm. 1, pp. 48-55

2021

  1. Abnormal frontal gyrification pattern and uncinate development in patients with KGB syndrome caused by ANKRD11 aberrations

    European Journal of Paediatric Neurology, Vol. 35, pp. 8-15

  2. Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases

    Molecular Syndromology, Vol. 12, Núm. 3, pp. 186-193

  3. Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

    Clinical Genetics, Vol. 100, Núm. 4, pp. 405-411

2020

  1. ANO3 and early-onset dyskinetic encephalopathy

    European Journal of Medical Genetics, Vol. 63, Núm. 12

  2. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479

  3. Genetic studies and neurodevelopment. From effectiveness to genetic models.

    Medicina (Argentina), Vol. 80, pp. 26-30

2019

  1. A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

    Journal of Neurochemistry, Vol. 151, Núm. 1, pp. 103-115

  2. Attention deficit/hyperactivity disorder. Study habits

    Medicina (Argentina), Vol. 79, Núm. 1, pp. 57-61

  3. Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents

    Actas Espanolas de Psiquiatria, Vol. 47, Núm. 4, pp. 158-164

2018

  1. Neurodevelopment and phenocopies of attention deficit hyperactivity disorder: Differential diagnosis

    Revista de Neurologia, Vol. 66, pp. S103-S107

2015

  1. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626

2010

  1. Cerebelitis aguda con hidrocefalia y compresión aguda del tronco encefálico

    Acta Pediatrica Espanola, Vol. 68, Núm. 6, pp. 314-318

2001

  1. The prevalence of headache in a population of patients with coeliac disease

    Revista de Neurologia, Vol. 32, Núm. 4, pp. 301-309

1999

  1. Sindromes hipertensivos intracraneales

    Pediatria Integral, Vol. 3, Núm. 4, pp. 425-431

1998

  1. Diagnosis in severe myoclonic epilepsy in infancy: Report of 13 cases

    Revista de Neurologia, Vol. 26, Núm. 153, pp. 759-762

  2. Munchausen syndrome by proxy: Report of one case with epilepsy

    Revista de Neurologia, Vol. 26, Núm. 153, pp. 772-774