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Journal of Personalized Medicine|November 19, 2020
Inhibition of 37/67kDa Laminin-1 Receptor Restores APP Maturation and Reduces Amyloid-β in Human Skin Fibroblasts from Familial Alzheimer's DiseaseAntaripa Bhattacharya, Antonella Izzo, Nunzia Mollo, et al.
BMC Medical Genetics|July 25, 2014
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, et al.
Molecular Cytogenetics|July 16, 2015
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocationRita Genesio, Angela Mormile, Maria Rosaria Licenziati, et al.
Human Molecular Genetics|December 22, 2012
Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defectsClaudia Piccoli, Antonella Izzo, Rosella Scrima, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|October 22, 2019
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literatureLaura Sarno, Giuseppe Maria Maruotti, Antonella Izzo, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22Daniela Melis, Rita Genesio, Gerarda Cappuccio, et al.
Human Molecular Genetics|January 15, 2017
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cellsAntonella Izzo, Maria Nitti, Nunzia Mollo, et al.
Frontiers in Genetics|June 1, 2022
Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 OverexpressionLaura De Rosa, Dominga Fasano, Lucrezia Zerillo, et al.
Frontiers in Genetics|July 19, 2019
Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome CellsNunzia Mollo, Maria Nitti, Lucrezia Zerillo, et al.
Frontiers in Genetics|August 28, 2020
Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome CellsNunzia Mollo, Maria Nitti, Lucrezia Zerillo, et al.
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