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A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study

Analytica chimica acta, 2019-01, Vol.1046, p.154-162

2019

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Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families

Human mutation, 2010-03, Vol.31 (3), p.E1175-E1185

2010

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MOLECULAR-GENETIC «PORTRAIT» OF BREAST CANCER

Uchenye zapiski (Sankt-Peterburgskiĭ gosudarstvennyĭ medit͡s︡inskiĭ universitet im. akad. I.P. Pavlova), 2017-06, Vol.24 (2), p.12-22

2017

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Epidemiological and genetic factors underlying melanoma development in Italy

Melanoma management, 2015-05, Vol.2 (2), p.149-163

2015

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Ethical and scientific considerations for chemoprevention research in cohorts at genetic risk for breast cancer

Journal of cellular biochemistry, 1996, Vol.63 (S25), p.123-130

Nayfield, Susan G.

1996

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Detection of disease‐causing mutations in prostate cancer by NGS sequencing

Cell biology international, 2022-07, Vol.46 (7), p.1047-1061

2022

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Association between germline pathogenic variants in cancer‐predisposing genes and lymphoma risk

Cancer science, 2022-11, Vol.113 (11), p.3972-3979

2022

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The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?

International journal of molecular sciences, 2024-02, Vol.25 (3), p.1895

2024

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LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

Science (American Association for the Advancement of Science), 2007-03, Vol.315 (5816), p.1278-1282

2007

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FKS Mutant Candida glabrata: Risk Factors and Outcomes in Patients With Candidemia

Clinical infectious diseases, 2014-09, Vol.59 (6), p.819-825

2014

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Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms

Endocrine-related cancer, 2023-06, Vol.30 (6)

2023

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Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis

BMJ, 2002-11, Vol.325 (7374), p.1202-1206

2002

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Comparative Genomics of Autism and Schizophrenia

Proceedings of the National Academy of Sciences - PNAS, 2010-01, Vol.107 (suppl 1), p.1736-1741

2010

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Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms

International journal of molecular sciences, 2023-11, Vol.24 (22), p.16021

2023

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Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers

Genes, 2020-07, Vol.11 (8), p.856

2020

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Genetics and epigenetics of CLL

Leukemia & lymphoma, 2023-02, Vol.64 (3), p.551-563

2023

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A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis

International journal of molecular sciences, 2023-03, Vol.24 (5), p.4743

2023

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The Enigmatic Role of TP53 in Germ Cell Tumours: Are We Missing Something?

International journal of molecular sciences, 2021-07, Vol.22 (13), p.7160

2021

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Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases

Endocrine, 2021-04, Vol.72 (1), p.147-156

2021

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Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency

Genes, 2022-12, Vol.14 (1), p.103

2022

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Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition

Journal of experimental & clinical cancer research, 2024-03, Vol.43 (1), p.65-65, Article 65

2024

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The multifaceted role of CARD9 in inflammatory bowel disease

Journal of cellular and molecular medicine, 2020-01, Vol.24 (1), p.34-39

2020

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Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

Proceedings of the National Academy of Sciences - PNAS, 2012-08, Vol.109 (35), p.14035-14040

2012

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Germline Structural Variations in Cancer Predisposition Genes

Frontiers in genetics, 2021-04, Vol.12, p.634217-634217

2021

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Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations

A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families

MOLECULAR-GENETIC «PORTRAIT» OF BREAST CANCER

Epidemiological and genetic factors underlying melanoma development in Italy

Ethical and scientific considerations for chemoprevention research in cohorts at genetic risk for breast cancer

Detection of disease‐causing mutations in prostate cancer by NGS sequencing

Association between germline pathogenic variants in cancer‐predisposing genes and lymphoma risk

The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?

LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

FKS Mutant Candida glabrata: Risk Factors and Outcomes in Patients With Candidemia

Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms

Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis

Comparative Genomics of Autism and Schizophrenia

Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers

Genetics and epigenetics of CLL

A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis

The Enigmatic Role of TP53 in Germ Cell Tumours: Are We Missing Something?

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases

Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency

Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition

The multifaceted role of CARD9 in inflammatory bowel disease

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

Germline Structural Variations in Cancer Predisposition Genes

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