Yvan Labrie

Quebec, QC, Canada

Last Updated: 09/26/2026

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Found 10 publications

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Describing the First Canadian Cohort of Oculogastrointestinal Neurodevelopmental Syndrome Caused by CAPN15 Pathogenic Variants.

Journal: American journal of medical genetics. Part A
Published: February 28, 2025

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.

Journal: Frontiers in neurology
Published: January 28, 2021

A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

Journal: JIMD reports
Published: June 24, 2020

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Journal: BMC neurology
Published: December 23, 2019

Identification of a gene signature for different stages of breast cancer development that could be used for early diagnosis and specific therapy.

Identification of a gene signature for different stages of breast cancer development that could be used for early diagnosis and specific therapy.

Journal: Oncotarget
Published: July 04, 2018

Transcriptional signature of lymphoblastoid cell lines of BRCA1, BRCA2 and non-BRCA1/2 high risk breast cancer families.

Transcriptional signature of lymphoblastoid cell lines of BRCA1, BRCA2 and non-BRCA1/2 high risk breast cancer families.

Journal: Oncotarget
Published: September 28, 2016

Genome-wide methylation analysis of DNMT3B gene isoforms revealed specific methylation profiles in breast cell lines.

Genome-wide methylation analysis of DNMT3B gene isoforms revealed specific methylation profiles in breast cell lines.

Journal: Epigenomics
Published: September 03, 2016

The Role of Methylation in Breast Cancer Susceptibility and Treatment.

The Role of Methylation in Breast Cancer Susceptibility and Treatment.

Journal: Anticancer research
Published: August 09, 2015

Analysis of a FANCE Splice Isoform in Regard to DNA Repair.

Analysis of a FANCE Splice Isoform in Regard to DNA Repair.

Journal: Journal of molecular biology
Published: April 24, 2015

Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.

Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.

Journal: Journal of human genetics
Published: November 16, 2012
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Last Updated: 09/26/2026