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L. Perone · SciRah

Researcher profile · Semantic Scholar

L. Perone

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L. Perone — researcher profile on SciRah

h-index: 11
Works: 25
Citations: 450

Most-cited papers

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases
N. Chiesa, A. De Crescenzo, Kankadeb Mishra, L. Perone +12 more
2011Human Molecular Genetics126 citations Open access
Semantic Scholar
Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells
Silvia Parisi, Elena V. Polishchuk, Simona Allocca, Michela Ciano +7 more
2018Scientific Reports50 citations Open access
Semantic Scholar
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases
M. Morleo, T. Pramparo, L. Perone, G. Gregato +10 more
2005American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
F. Lonardo, G. Parenti, Daniela V Luquetti, Ida Annunziata +7 more
2007European Journal of Medical Genetics42 citations
Semantic Scholar
Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
M. P. Sperandeo, P. Ungaro, M. Vernucci, P. V. Pedone +8 more
2000American Journal of Human Genetics34 citations Open access
Semantic Scholar
MePR: A Novel Human Mesenchymal Progenitor Model with Characteristics of Pluripotency
M. Miceli, Gianluigi Franci, C. Dell'Aversana, F. Ricciardiello +8 more
2013Stem Cells and Development20 citations Open access
Semantic Scholar
The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.
M. Alfieri, Daniela Iaconis, R. Tammaro, L. Perone +5 more
2020Tissue & Cell17 citations
Semantic Scholar
Clinical, cytogenetic and molecular‐cytogenetic characterization of a patient with a de novo tandem proximal‐intermediate duplication of 16q and review of the literature
F. Lonardo, L. Perone, M. Maioli, M. Ciavarella +7 more
2011American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
D. Melis, L. Perone, M. P. Sperandeo, Maria Simona Sabbatino +4 more
1998Journal of Medical Genetics14 citations Open access
Semantic Scholar
Cutis Verticis Gyrata—Mental Deficiency Syndrome: A Patient with Drug‐Resistant Epilepsy and Polymicrogyria
S. Striano, P. Ruosi, V. Guzzetta, L. Perone +2 more
1996Epilepsia14 citations
Semantic Scholar
Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history
D. Paladini, S. Palmieri, M. Lecora, L. Perone +4 more
1996Ultrasound in Obstetrics and Gynecology12 citations
Semantic Scholar
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes
S. E. Boonen, A. Freschi, Rikke Christensen, Federica Maria Valente +8 more
2016Clinical Epigenetics11 citations Open access
Semantic Scholar
Cytogenetic study of a cell line of human penile cancer.
G. Gentile, G. Giraldo, M. Stabile, E. Beth-giraldo +4 more
1987Annales de Genetique11 citations
Semantic Scholar
Trans‐generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy
J. Martone, Michela Lisi, F. Castagnetti, A. Rosa +9 more
2020EMBO Molecular Medicine10 citations Open access
Semantic Scholar
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins
D. Melis, Maria Pia Sperandeo, L. Perone, A. Staiano +2 more
2006Clinical Dysmorphology7 citations
Semantic Scholar
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
M. Rossi, P. Di Micco, L. Perone, D. De Brasi +6 more
2002American journal of medical genetics7 citations
Semantic Scholar
Familial trisomy 6p in mother and daughter
M. Savarese, A. Grandone, L. Perone, F. Del Vecchio Blanco +7 more
2013American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
Cloverleaf skull anomaly and de novo trisomy 4p
D. De Brasi, L. Perone, P. Di Micco, G. Andria +4 more
1999Journal of Medical Genetics4 citations Open access
Semantic Scholar
Author Correction: Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells
S. Parisi, Elena Polishchuk, Simona Allocca, Michela Ciano +7 more
2020Scientific Reports3 citations Open access
Semantic Scholar
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature
A. Grandone, F. Del Vecchio Blanco, A. Torella, M. Caruso +10 more
2016Hormone Research in Paediatrics3 citations Open access
Semantic Scholar
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
G. Sebastio, L. Perone, V. Guzzetta, L. Sebastio +9 more
1996American journal of medical genetics2 citations
Semantic Scholar
Motor Neuron Dysfunction in SORD Deficiency: Implications for Therapeutic Development in Peripheral Neuropathies
Giuseppina Divisato, S. Tozza, Emanuela Cascone, Elena Polishchuk +13 more
2026bioRxiv0 citations Open access
Semantic Scholar
Author Correction: Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells
S. Parisi, Elena Polishchuk, Simona Allocca, Michela Ciano +7 more
2020Scientific Reports0 citations Open access
Semantic Scholar
Additional file 1: Figure S1. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes
S. E. Boonen, A. Freschi, Rikke Christensen, Federica Maria Valente +8 more
20160 citations
Semantic Scholar
Expression of the autosomal folate-sensitive fragile sites in ten kindreds with Martin-Bell syndrome.
V. Ventruto, M. Stabile, G. Gentile, G. de Tollis +6 more
1986Annales de Genetique0 citations
Semantic Scholar

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