Concepedia

Lucia Perone

LP

Statistics

Publications

14

Citations

443

H-Index

12

Active since

1987

Affiliations

Telethon Institute Of Genetics And Medicine(Current)

University of Naples Federico II

Federico II University Hospital

Istituti di Ricovero e Cura a Carattere Scientifico

Casa Sollievo della Sofferenza

Lucia Perone is an author at Telethon Institute Of Genetics And Medicine specializing in medicine, developmental biology, and genetics.

Top concepts

Publications per year

1987–2020

14

Publications

14

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra et al. · Human Molecular Genetics · 2011 · 123 citations · Full text

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 et al. · Scientific Reports · 2018 · 46 citations · Full text

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD

Fortunato Lonardo, Giancarlo Parenti, Daniela V. Luquetti et al. · European Journal of Medical Genetics · 2007 · 41 citations

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Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

Manuela Morleo, Tiziano Pramparo, Lucia Perone et al. · American Journal of Medical Genetics Part A · 2005 · 41 citations

Familial trisomy 6p in mother and daughter

Marco Savarese, Anna Grandone, Lucia Perone et al. · American Journal of Medical Genetics Part A · 2013 · 37 citations · Full text

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