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Clinical Dysmorphology|December 1, 2005
Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal originsDaniela Melis, Maria Pia Sperandeo, Lucia Perone, et al.
Tissue & Cell|June 1, 2020
The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progressionMariaevelina Alfieri, Daniela Iaconis, Roberta Tammaro, et al.
American Journal of Medical Genetics. Part A|March 19, 2011
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literatureFortunato Lonardo, Lucia Perone, Marianna Maioli, et al.
Scientific Reports|April 21, 2018
Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cellsSilvia Parisi, Elena V Polishchuk, Simona Allocca, et al.
Scientific Reports|June 24, 2020
Author Correction: Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cellsSilvia Parisi, Elena V Polishchuk, Simona Allocca, et al.
Stem Cells and Development|April 20, 2013
MePR: a novel human mesenchymal progenitor model with characteristics of pluripotencyMarco Miceli, Gianluigi Franci, Carmela Dell'Aversana, et al.
American Journal of Medical Genetics|July 13, 2002
Unbalanced translocation (3;5)(q26.1;p14): a clinical reportMassimiliano Rossi, Pasqua Di Micco, Lucia Perone, et al.
European Journal of Medical Genetics|June 27, 2007
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHDFortunato Lonardo, Giancarlo Parenti, Daniela Varela Luquetti, et al.
Clinical Epigenetics|June 18, 2016
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypesSusanne Eriksen Boonen, Andrea Freschi, Rikke Christensen, et al.
EMBO Molecular Medicine|June 30, 2020
Trans-generational epigenetic regulation associated with the amelioration of Duchenne Muscular DystrophyJulie Martone, Michela Lisi, Francesco Castagnetti, et al.
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