List of works - Antonella Izzo

40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features

scientific article published on 2 January 2012

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

scientific article

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications

scientific article published on 28 November 2013

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

scientific article published on 27 February 2019

Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects

scientific article published on 20 December 2012

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review

scientific article published on 19 December 2013

First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature

scientific article published on 21 October 2019

Hmga1 null mouse embryonic fibroblasts display downregulation of spindle assembly checkpoint gene expression associated to nuclear and karyotypic abnormalities

scientific article published on 18 February 2016

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22

scientific article published on 10 June 2011

Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells

scientific article published on 13 January 2017

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.

scientific article published on 15 March 2018

NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome

scientific article published on 3 April 2014

Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses.

scientific article

PAX8 expression in high-grade serous ovarian cancer positively regulates attachment to ECM via Integrin β3

scientific article published on 20 November 2019

Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells

scientific article published on 28 June 2019

Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

scientific article published on 9 February 2018

Rab7 Regulates CDH1 Endocytosis, Circular Dorsal Ruffles Genesis, and Thyroglobulin Internalization in a Thyroid Cell Line

scientific article published on 24 November 2015

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

scientific article published on 15 July 2015

Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.

scientific article published in October 2011

List of works by Antonella Izzo