Lista de obras - Mara Colombo - Dominio Público Uruguay

An unusual BRCA2 allele carrying two splice site mutations

artículo científico publicado en 2009

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

artículo científico publicado en 2008

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers

scientific article published on 30 November 2020

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

artículo científico publicado en 2014

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

artículo científico publicado en 2013

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

artículo científico publicado en 2014

Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases

artículo científico publicado en 2008

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

artículo científico publicado en 2013

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report

artículo científico publicado en 2013

HMGA1 protein expression in familial breast carcinoma patients

artículo científico publicado en 2009

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

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

artículo científico publicado en 2016

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

article

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.

artículo científico publicado en 2012

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

artículo científico publicado en 2018

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

artículo científico publicado en 2019

Lista de obras de Mara Colombo

An unusual BRCA2 allele carrying two splice site mutations

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers

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

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report

HMGA1 protein expression in familial breast carcinoma patients

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

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance