Chiara Barone

Siracusa, 96100, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 17 publications

In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.

In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.

Journal: Genes

Published: June 28, 2024

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Journal: Cancer management and research

Published: November 19, 2021

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Journal: Clinical genetics

Published: February 10, 2021

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

Journal: Orphanet journal of rare diseases

Published: April 27, 2020

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Journal: Clinical genetics

Published: November 07, 2019

ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

Journal: Glycoconjugate journal

Published: May 09, 2019

Consensus Document of the Italian Association of Hospital Cardiologists (ANMCO), Italian Society of Pediatric Cardiology (SICP), and Italian Society of Gynaecologists and Obstetrics (SIGO): pregnancy and congenital heart diseases.

Consensus Document of the Italian Association of Hospital Cardiologists (ANMCO), Italian Society of Pediatric Cardiology (SICP), and Italian Society of Gynaecologists and Obstetrics (SIGO): pregnancy and congenital heart diseases.

Journal: European heart journal supplements : journal of the European Society of Cardiology

Published: July 29, 2017

ANMCO/SICP/SIGO Consensus document: Pregnancy and congenital heart disease

ANMCO/SICP/SIGO Consensus document: Pregnancy and congenital heart disease

Journal: Giornale italiano di cardiologia (2006)

Published: November 22, 2016

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: December 15, 2015

15q11.2 microdeletion and hypoplastic left heart syndrome.

15q11.2 microdeletion and hypoplastic left heart syndrome.

Journal: European journal of medical genetics

Published: June 17, 2015

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

Journal: American journal of medical genetics. Part A

Published: August 29, 2014

Updating of the prevalence of congenital anomalies among resident births in the Municipality of Gela (Southern Italy)

Updating of the prevalence of congenital anomalies among resident births in the Municipality of Gela (Southern Italy)

Journal: Epidemiologia e prevenzione

Published: August 14, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026