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Lucia Pucci

Observed names: L Pucci, L. PUCCI, L. Pucci
Institution: University of Siena
OpenAlex ID: A5011069423
Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome
1997 · Romeo Carrozzo, Elena Rossi, et al. · The American Journal of Human Genetics · 81
Diagnosis of Angelman syndrome: clinical and EEG criteria
1999 · Sabrina Buoni, Salvatore Grosso, et al. · Brain and Development · 61
Hereditary Neuronal Intranuclear Inclusion Disease With Autonomic Failure and Cerebellar Degeneration
2002 · Raffaella Zannolli, Sid Gilman, et al. · Archives of Neurology · 59
Electroencephalographic and Epileptic Patterns in X Chromosome Anomalies
2004 · Salvatore Grosso, Mariangela A. Farnetani, et al. · Journal of Clinical Neurophysiology · 38
Chromosome 18 aberrations and epilepsy: A review
2005 · S. Grosso, L. Pucci, et al. · American Journal of Medical Genetics Part A · 29
The Syndrome of Inv Dup (15): Clinical, Electroencephalographic, and Imaging Findings
2000 · Sabrina Buoni, Livio Sorrentino, et al. · Journal of Child Neurology · 28
Growth hormone secretion in Prader-Willi syndrome
1998 · S. Grosso, M. Cioni, et al. · Journal of Endocrinological Investigation · 22
De novo complete trisomy 5p: Clinical and neuroradiological findings
2002 · Salvatore Grosso, Maddalena Cioni, et al. · American Journal of Medical Genetics · 21
Pubertal disorders in inv dup(15) syndrome
2001 · S. Grosso, P. Balestri, et al. · Gynecological Endocrinology · 18
Central Precocious Puberty and Abnormal Chromosomal Patterns
2000 · Salvatore Grosso, Cecilia Anichini, et al. · Endocrine Pathology · 18
Char syndrome: An additional family with polythelia, a new finding
2000 · R. Zannolli, R. Mostardini, et al. · American Journal of Medical Genetics · 17
Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations
2008 · Salvatore Grosso, Lucia Pucci, et al. · Epilepsy Research · 14
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
2003 · C. Battisti, M.C. Bonaglia, et al. · American Journal of Medical Genetics Part A · 12
18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his family
2002 · R. Zannolli, M. Pierluigi, et al. · American Journal of Medical Genetics Part A · 12
Photoparoxysmal responses in children with chromosomal aberrations
2006 · Salvatore Grosso, Lucia Pucci, et al. · Epilepsy Research · 9
Epilepsy and Electroencephalographic Findings in Pericentric Inversion of Chromosome 12
2004 · Salvatore Grosso, Lucia Pucci, et al. · Journal of Child Neurology · 9
[Correlation of the clinical phenotype with a pericentric inversion of chromosome 9].
1992 · R Scarinci, C Anichini, et al. · PubMed · 9
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation
2008 · Salvatore Grosso, Marco Fichera, et al. · Developmental Medicine & Child Neurology · 8
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Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)]
2001 · R. Zannolli, R. Mostardini, et al. · American Journal of Medical Genetics · 8
Selective mutism, speech delay, dysmorphisms, and deletion of the short arm of chromosome 18: a distinct entity?
1999 · S. GROSSO, M. CIONI, et al. · Journal of Neurology Neurosurgery & Psychiatry · 7
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[Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18].
1992 · R Vivarelli, M Paolieri, et al. · PubMed · 4
Familial Robertsonian 13;14 Translocation With Mental Retardation and Epilepsy
2006 · Sabrina Buoni, Raffaella Zannolli, et al. · Journal of Child Neurology · 3
Vagal and Hypoglossal Bell's Palsy
2000 · Raffaella Zannolli, Antonio Acquaviva, et al. · Journal of Child Neurology · 2
Precocious Puberty With Trisomy X Syndrome
1999 · Salvatore Grosso, Rosario Berardi, et al. · Obstetrics and Gynecology · 2
Global developmental delay, osteopenia and ectodermal defect: A new syndrome
2005 · Raffaella Zannolli, Sabrina Buoni, et al. · Brain and Development
Works count: 26
Citation count: 491
H-index: 12
I10-index: 14
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