A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, +53

Human Molecular Genetics

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Costanza Bacci, Roberta Sestini, Aldesia Provenzano, +6

Neurogenetics

Neuro-oncologyFamilial Smarcb1 MutationMendelian DisorderGenetic DisorderPathology +4

Epilepsy in Neurofibromatosis 1

Rossella Vivarelli, Salvatore Grosso, Fulvia Calabrese, +4

Journal of Child Neurology

Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis

Gabriele Buttinelli, Valentina Donati, Stefano Fiore, +8

Journal of General Virology

VaccinationDiagnostic VirologyViral EvolutionMolecular VirologyNucleotide Variation +13

Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria

Rossella Vivarelli, Salvatore Grosso, M. Cioni, +4

Brain and Development

Pseudo-torch SyndromeDiagnosisHand SurgeryMedicineOrthopaedic Surgery

GM2 gangliosidosis variant B1

Salvatore Grosso, M. A. Farnetani, Rosario Berardi, +5

Journal of Neurology

G Protein-coupled ReceptorGeneticsPathogenesisPathologyMolecular Genetics +1

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Francesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, +23

Brain and Development

Neurodevelopmental DisordersIntellectual ImpairmentNeurological DisorderDisabilityNicolaides–baraitser Syndromes +4

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

Roberta Sestini, Rossella Vivarelli, Paolo Balestri, +3

Human Genetics

Nf2 GeneMendelian DisorderGenetic DisorderGeneticsGonosomal Mosaicism +5

Quantitative Ultrasound and Dual-Energy X-ray Absorptiometry in Children and Adolescents With Neurofibromatosis of Type 1

Carla Caffarelli, Stefano Gonnelli, L. Tanzilli, +4

Journal of Clinical Densitometry

Type 1Medical ImagingNeurologyDual-energy X-ray AbsorptiometryNeuropathology +5

Chromosome abnormalities in tuberous sclerosis

Susi Scappaticci, D. Cerimele, M. Tondi, +3

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsHistopathologyPathology +4