Lista de obras - Maxime P Vallée - Dominio Público Uruguay

A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer

artículo científico publicado en 2015

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

artículo científico publicado en 2011

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry

artículo científico publicado en 2016

Abstract 3137: NGS-based detection of KRAS hotspot mutations in plasma cell-free DNA of pancreatic cancer cases

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

artículo científico publicado en 2016

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

artículo científico publicado en 2015

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

artículo científico publicado en 2011

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.

artículo científico publicado en 2017

Corrigendum: Modelling mutational landscapes of human cancers in vitro.

artículo científico publicado en 2017

Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma

artículo científico publicado en 2016

Erratum: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scholarly article published in Nature Genetics

Modelling mutational landscapes of human cancers in vitro.

artículo científico publicado en 2014

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study

artículo científico publicado en 2012

Rare Circulating Cells in Familial Waldenström Macroglobulinemia Displaying the MYD88 L265P Mutation Are Enriched by Epstein-Barr Virus Immortalization.

artículo científico publicado en 2015

Rare germline mutations in PALB2 and breast cancer risk: a population-based study

artículo científico publicado en 2012

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

artículo científico publicado en 2014

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scientific journal article

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

artículo científico publicado en 2009

Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues.

artículo científico publicado en 2015

The 12p13.33/RAD52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract

artículo científico publicado en 2015

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

artículo científico publicado en 2022

microRNA-132/212 deficiency enhances Aβ production and senile plaque deposition in Alzheimer's disease triple transgenic mice

artículo científico publicado en 2016

Lista de obras de Maxime P Vallée

A rare truncating BRCA2 variant and genetic susceptibility to upper aerodigestive tract cancer

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry

Abstract 3137: NGS-based detection of KRAS hotspot mutations in plasma cell-free DNA of pancreatic cancer cases

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.

Corrigendum: Modelling mutational landscapes of human cancers in vitro.

Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma

Erratum: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Modelling mutational landscapes of human cancers in vitro.

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study

Rare Circulating Cells in Familial Waldenström Macroglobulinemia Displaying the MYD88 L265P Mutation Are Enriched by Epstein-Barr Virus Immortalization.

Rare germline mutations in PALB2 and breast cancer risk: a population-based study

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues.

The 12p13.33/RAD52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

microRNA-132/212 deficiency enhances Aβ production and senile plaque deposition in Alzheimer's disease triple transgenic mice