Antonella Turchiano

Bari, 70125, Italy

Last Updated: 09/26/2026

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Found 13 publications

Healthy BRCA1/2 mutation carriers exhibit a pre-CAF signature and altered epithelial marker expression in breast tissue.

Healthy BRCA1/2 mutation carriers exhibit a pre-CAF signature and altered epithelial marker expression in breast tissue.

Journal: Scientific reports

Published: May 27, 2025

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

Journal: International journal of molecular sciences

Published: August 20, 2024

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Journal: Genes

Published: June 23, 2023

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.

Journal: Genes, chromosomes & cancer

Published: April 22, 2023

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Journal: European journal of human genetics : EJHG

Published: January 30, 2023

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Journal: Genes, chromosomes & cancer

Published: March 28, 2022

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Journal: Cancers

Published: December 09, 2021

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Journal: Journal of medical genetics

Published: July 11, 2021

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Journal: Clinical genetics

Published: July 29, 2020

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia.

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia.

Journal: Clinical and experimental medicine

Published: October 23, 2018

Correction: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.

Correction: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.

Journal: Leukemia

Published: July 10, 2018

RALE051: a novel established cell line of sporadic Burkitt lymphoma.

RALE051: a novel established cell line of sporadic Burkitt lymphoma.

Journal: Leukemia & lymphoma

Published: September 13, 2017

Showing 1-12 of 13

Last Updated: 09/26/2026