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List of works by Mariarosaria Calvello

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

scientific article published on 29 October 2013

Breast cancer with rare metastatic manifestation

scientific article published on 24 July 2019

Cancer: more genetic BRCA testing for men

scientific article published on 01 September 2019

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

scientific article published on 21 October 2018

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) C

scientific article published on 26 October 2018

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

scientific article published on 17 June 2020

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

scientific article

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

scientific article published on 05 August 2013

Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

scientific article

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

scientific article published on 18 October 2017

Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy

scientific article published on 24 October 2019

X chromosome inactivation pattern in BRCA gene mutation carriers

scientific article published on 9 November 2012

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