Fulvia Brugnoletti

Rome, Italy

Last Updated: 09/26/2026

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Found 14 publications

Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome.

Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome.

Journal: Journal of personalized medicine

Published: September 23, 2025

Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.

Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.

Journal: European journal of human genetics : EJHG

Published: August 16, 2024

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 30, 2023

RADX Gene Variant May Predispose to Familial Asperger Syndrome.

RADX Gene Variant May Predispose to Familial Asperger Syndrome.

Journal: Genes

Published: December 07, 2022

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

Journal: European journal of medical genetics

Published: May 20, 2022

Identification of new candidate genes for spina bifida through exome sequencing.

Identification of new candidate genes for spina bifida through exome sequencing.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: February 11, 2021

DNA Methylation in the Diagnosis of Monogenic Diseases.

DNA Methylation in the Diagnosis of Monogenic Diseases.

Journal: Genes

Published: February 21, 2020

Burkitt Lymphoma as Fourth Neoplasia in a Patient Affected by Cowden Syndrome with a Novel PTEN Germline Pathogenic Variant.

Burkitt Lymphoma as Fourth Neoplasia in a Patient Affected by Cowden Syndrome with a Novel PTEN Germline Pathogenic Variant.

Journal: Mediterranean journal of hematology and infectious diseases

Published: August 20, 2019

Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.

Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.

Journal: Oncotarget

Published: October 23, 2015

CRLF2 overexpression identifies an unfavourable subgroup of adult B-cell precursor acute lymphoblastic leukemia lacking recurrent genetic abnormalities.

CRLF2 overexpression identifies an unfavourable subgroup of adult B-cell precursor acute lymphoblastic leukemia lacking recurrent genetic abnormalities.

Journal: Leukemia research

Published: October 10, 2015

CD45 antigen negativity in T-lineage ALL correlates with PTPRC mutation and sensitivity to a selective JAK inhibitor.

CD45 antigen negativity in T-lineage ALL correlates with PTPRC mutation and sensitivity to a selective JAK inhibitor.

Journal: British journal of haematology

Published: April 10, 2015

Increased chronic lymphocytic leukemia proliferation upon IgM stimulation is sustained by the upregulation of miR-132 and miR-212.

Increased chronic lymphocytic leukemia proliferation upon IgM stimulation is sustained by the upregulation of miR-132 and miR-212.

Journal: Genes, chromosomes & cancer

Published: July 28, 2014

Showing 1-12 of 14

Last Updated: 09/26/2026