List of works - Anna Conti

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

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

scientific article

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

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

scientific article published on 09 March 2012

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

scientific article

Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinical outcome in medulloblastoma. Detection of a novel chromosomal abnormality.

scientific article published on 27 July 2002

Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies

scientific article

EEG signal processing in anaesthesia. Use of a neural network technique for monitoring depth of anaesthesia

scientific article

Ethnic differences in propofol and fentanyl response: a comparison among Caucasians, Kenyan Africans and Brazilians

scientific article published in April 2004

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region

scientific article published on 22 August 2011

Glutathione and N-acetylcysteine in the prevention of free-radical damage in the initial phase of septic shock

scientific article published in February 2002

Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis

scientific article

Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

scientific article published on 01 August 2004

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

Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect

scientific article published on 01 January 1998

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

scientific article published on 9 February 2018

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring

scientific article

Short 9q interstitial deletion in a neonate with lethal non-immune hydrops

scientific article published on 01 October 2008

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

Targeting Mitochondrial Network Architecture in Down Syndrome and Aging

scientific article published on 29 April 2020

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

scientific article published on 20 May 2008

Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

scientific article published on 10 December 2010

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

scientific article

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

Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation

article

List of works by Anna Conti

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

Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

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

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinical outcome in medulloblastoma. Detection of a novel chromosomal abnormality.

Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies

EEG signal processing in anaesthesia. Use of a neural network technique for monitoring depth of anaesthesia

Ethnic differences in propofol and fentanyl response: a comparison among Caucasians, Kenyan Africans and Brazilians

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region

Glutathione and N-acetylcysteine in the prevention of free-radical damage in the initial phase of septic shock

Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis

Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

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

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

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

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

Prenatal diagnosis of 22q11 microdeletion in a fetus with a conotruncal heart defect

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

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring

Short 9q interstitial deletion in a neonate with lethal non-immune hydrops

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

Targeting Mitochondrial Network Architecture in Down Syndrome and Aging

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

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

Wide gene expression profiling of ischemia-reperfusion injury in human liver transplantation