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Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition

Scientific reports, 2020-08, Vol.10 (1), p.13987, Article 13987

2020

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Association Between MDM2–SNP309 and Age at Colorectal Cancer Diagnosis According to p53 Mutation Status

JNCI : Journal of the National Cancer Institute, 2006-02, Vol.98 (4), p.285-288

2006

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BRCA1 p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy

Journal of clinical oncology, 2008-01, Vol.26 (1), p.26-31

2008

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Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Breast cancer research and treatment, 2012-04, Vol.132 (3), p.1009-1023

2012

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Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

Human molecular genetics, 2003-05, Vol.12 (9), p.1055-1061

2003

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CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

Human mutation, 2014-07, Vol.35 (7), p.828-840

2014

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DNA copy number alterations correlate with survival of esophageal adenocarcinoma patients

Modern pathology, 2009-01, Vol.22 (1), p.58-65

2009

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Contribution of susceptibility gene variants to melanoma risk in families from the Veneto region of Italy

Pigment cell and melanoma research, 2011-08, Vol.24 (4), p.728-730

2011

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Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations

Genes chromosomes & cancer, 2006-09, Vol.45 (9), p.791-797

2006

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The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy

Human mutation, 2004-07, Vol.24 (1), p.100-101

2004

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Establishment and characterization of xenografts and cancer cell cultures derived from BRCA1 −/− epithelial ovarian cancers

European journal of cancer (1990), 2006-07, Vol.42 (10), p.1475-1483

2006

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Prevalence ofBRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectableBRCA1 andBRCA2 point mutations

Genes chromosomes & cancer, 2006-09, Vol.45 (9), p.791-797

2006

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Dwarfism in Imperial Rome: A Case of Skeletal Evidence

Journal of clinical research & bioethics, 2013, Vol.4 (3)

2013

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Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation

Breast cancer research and treatment, 2003-09, Vol.81 (1), p.71-79

2003

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Identification of BRCA1 and BRCA2 carriers by allele‐specific gene expression (AGE) analysis

International journal of cancer, 2002-04, Vol.98 (5), p.732-736

2002

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Identification of BRACA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis

International journal of cancer, 2002, Vol.98 (5), p.732-736

2002

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Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation

Mutation research, 2009-12, Vol.671 (1-2), p.26-32

2009

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Functional impairment of p16INK4A due to CDKN2A p.Gly23Asp missense mutation

Mutation research, 2009-12, Vol.671 (1-2), p.26-32

2009

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Functional impairment of p16 INK4A due to CDKN2A p.Gly23Asp missense mutation

Mutation research, 2009, Vol.671 (1), p.26-32

2009

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The BRCA2 sequence variant IVS19+1G→A leads to an aberrant transcript lacking exon 19

Cancer genetics and cytogenetics, 2003-03, Vol.141 (2), p.175-176

2003

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Pathophysiological, Molecular and Therapeutic Issues of Nonalcoholic Fatty Liver Disease: An Overview

International journal of molecular sciences, 2019-04, Vol.20 (8), p.1948

2019

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The Role of Epigenetics in Neuroinflammatory-Driven Diseases

International journal of molecular sciences, 2022-12, Vol.23 (23), p.15218

2022

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Role of cell-type specific nucleosome positioning in inducible activation of mammalian promoters

Nature communications, 2020-02, Vol.11 (1), p.1075-1075, Article 1075

2020

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West syndrome: a comprehensive review

Neurological sciences, 2020-12, Vol.41 (12), p.3547-3562

2020

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Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition

Association Between MDM2–SNP309 and Age at Colorectal Cancer Diagnosis According to p53 Mutation Status

BRCA1 p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy

Whole‐exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

DNA copy number alterations correlate with survival of esophageal adenocarcinoma patients

Contribution of susceptibility gene variants to melanoma risk in families from the Veneto region of Italy

Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations

The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy

Establishment and characterization of xenografts and cancer cell cultures derived from BRCA1 −/− epithelial ovarian cancers

Prevalence ofBRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectableBRCA1 andBRCA2 point mutations

Dwarfism in Imperial Rome: A Case of Skeletal Evidence

Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation

Identification of BRCA1 and BRCA2 carriers by allele‐specific gene expression (AGE) analysis

Identification of BRACA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis

Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation

Functional impairment of p16INK4A due to CDKN2A p.Gly23Asp missense mutation

Functional impairment of p16 INK4A due to CDKN2A p.Gly23Asp missense mutation

The BRCA2 sequence variant IVS19+1G→A leads to an aberrant transcript lacking exon 19

Pathophysiological, Molecular and Therapeutic Issues of Nonalcoholic Fatty Liver Disease: An Overview

The Role of Epigenetics in Neuroinflammatory-Driven Diseases

Role of cell-type specific nucleosome positioning in inducible activation of mammalian promoters

West syndrome: a comprehensive review

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