Carmelilia De Bernardo

Rome, 00100, Italy

Last Updated: 09/26/2026

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Found 17 publications

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

Journal: International journal of molecular sciences

Published: November 06, 2020

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: July 27, 2017

A novel germline mutation in CDK4 codon 24 associated to familial melanoma.

A novel germline mutation in CDK4 codon 24 associated to familial melanoma.

Journal: Clinical genetics

Published: June 29, 2017

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

Published: March 24, 2016

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.

Journal: Data in brief

Published: December 08, 2015

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Journal: Gene

Published: July 29, 2015

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

Journal: Blood cells, molecules & diseases

Published: February 12, 2015

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Journal: Endocrine connections

Published: September 25, 2014

A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma.

A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma.

Journal: Cancer genetics

Published: February 07, 2014

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

Journal: Molecular syndromology

Published: January 14, 2014

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

Journal: BMC research notes

Published: August 19, 2013

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.

Journal: Blood cells, molecules & diseases

Published: July 18, 2013

Showing 1-12 of 17

Last Updated: 09/26/2026