Diagnosis of Angelman syndrome: clinical and EEG criteria

Sabrina Buoni, Salvatore Grosso, Lucia Pucci, +1

Brain and Development

PsychiatryNeurological DisorderAngelman SyndromeEeg Signal ProcessingClinical Neurology +6

Hereditary Neuronal Intranuclear Inclusion Disease With Autonomic Failure and Cerebellar Degeneration

Raffaella Zannolli, Sid Gilman, Símone Rossi, +8

Archives of Neurology

Electroencephalographic and Epileptic Patterns in X Chromosome Anomalies

Salvatore Grosso, Mariangela Farnetani, Rosanna Maria Di Bartolo, +8

Journal of Clinical Neurophysiology

Mendelian DisorderCytogeneticsNeuroanatomyGeneticsMedicine +11

The Syndrome of Inv Dup (15): Clinical, Electroencephalographic, and Imaging Findings

Sabrina Buoni, Livio Sorrentino, M. A. Farnetani, +2

Journal of Child Neurology

Developmental AnomalyChromosome 15Mendelian DisorderSyndromic AutismNeurovirology +13

De novo complete trisomy 5p: Clinical and neuroradiological findings

Salvatore Grosso, M. Cioni, Gianluca Garibaldi, +5

American Journal of Medical Genetics

Growth hormone secretion in Prader-Willi syndrome

Salvatore Grosso, M. Cioni, Sabrina Buoni, +3

Journal of Endocrinological Investigation

Developmental BiologyGrowth HormoneHuman GrowthPathogenesisPathology +3

Pubertal disorders in inv dup(15) syndrome

Salvatore Grosso, Paolo Balestri, Cecilia Anichini, +4

Gynecological Endocrinology

Char syndrome: An additional family with polythelia, a new finding

Raffaella Zannolli, Rosa Mostardini, Michele Matera, +3

American Journal of Medical Genetics

Central Precocious Puberty and Abnormal Chromosomal Patterns

Salvatore Grosso, Cecilia Anichini, Rosario Berardi, +3

Endocrine Pathology

Developmental AnomalyInfertilityDevelopmental BiologyGenetic DisorderGenetics +5

18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family

Raffaella Zannolli, M. Pierluigi, Lucia Pucci, +19

American Journal of Medical Genetics Part A