Caterina Congregati

Pisa, 56126, Italy

Last Updated: 09/26/2026

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Found 12 publications

The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.

The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.

Journal: International journal of molecular sciences

Published: August 23, 2023

Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.

Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.

Journal: International journal of molecular sciences

Published: January 25, 2022

Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.

Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.

Journal: Head and neck pathology

Published: December 29, 2021

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Journal: International journal of molecular sciences

Published: June 12, 2021

Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.

Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.

Journal: Breast cancer research and treatment

Published: February 18, 2019

Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development.

Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development.

Journal: Frontiers in genetics

Published: May 02, 2018

Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.

Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.

Journal: Carcinogenesis

Published: February 16, 2017

A 17q duplication prenatally detected.

A 17q duplication prenatally detected.

Journal: Taiwanese journal of obstetrics & gynecology

Published: May 27, 2014

Role of 18F-DOPA PET/CT in diagnosis and follow-up of adrenal and extra-adrenal paragangliomas.

Role of 18F-DOPA PET/CT in diagnosis and follow-up of adrenal and extra-adrenal paragangliomas.

Journal: Clinical nuclear medicine

Published: December 05, 2013

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

Journal: PloS one

Published: August 28, 2013

Acro-cardio-facial syndrome: a microdeletion syndrome?

Acro-cardio-facial syndrome: a microdeletion syndrome?

Journal: American journal of medical genetics. Part A

Published: February 03, 2012

Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations.

Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations.

Journal: Head & neck

Published: November 02, 2011

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Last Updated: 09/26/2026