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Lista de obras de M Calvello

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

artículo científico publicado en 2013

Breast cancer with rare metastatic manifestation

scientific article published on 24 July 2019

Cancer: more genetic BRCA testing for men

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2012

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