Chiara Castronovo

Segrate, Italy

Last Updated: 09/26/2026

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Found 15 publications

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Journal: Human genetics
Published: March 15, 2024

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Journal: Neurogenetics
Published: April 11, 2019

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.

High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.

Journal: Human reproduction (Oxford, England)
Published: September 07, 2018

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Journal: Frontiers in genetics
Published: July 27, 2018

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature.

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature.

Journal: Molecular cytogenetics
Published: June 05, 2018

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

Journal: Molecular genetics and metabolism reports
Published: May 24, 2017

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Journal: Molecular cytogenetics
Published: January 15, 2015

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.

Journal: Human reproduction (Oxford, England)
Published: December 11, 2013

Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.

Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.

Journal: American journal of medical genetics. Part A
Published: December 11, 2013

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Journal: BMC medical genetics
Published: August 24, 2013

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.

Journal: Molecular cytogenetics
Published: August 08, 2013

Effects of continuous positive airway pressure on cognitition and neuroimaging data in sleep apnea.

Effects of continuous positive airway pressure on cognitition and neuroimaging data in sleep apnea.

Journal: International journal of psychophysiology : official journal of the International Organization of Psychophysiology
Published: January 21, 2013
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Last Updated: 09/26/2026