Christine Yergeau

Montreal, QC, Canada

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

Journal: Molecular genetics and metabolism
Published: January 09, 2025

Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.

Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.

Journal: Ophthalmology
Published: April 24, 2023

An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.

An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.

Journal: Journal of participatory medicine
Published: February 21, 2023

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.

Journal: Cells
Published: May 11, 2022

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.

Journal: American journal of medical genetics. Part A
Published: March 30, 2022

Retraction: Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.

Retraction: Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.

Journal: PLoS genetics
Published: February 04, 2022

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

Journal: Ear and hearing
Published: September 17, 2021

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Journal: Neurogenetics
Published: July 22, 2021

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.

Journal: Journal of inherited metabolic disease
Published: October 05, 2020

Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.

Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.

Journal: PLoS genetics
Published: March 15, 2019

Alternate transcripts of the Drosophila "activator" E2F are necessary for maintenance of cell cycle exit during development.

Alternate transcripts of the Drosophila "activator" E2F are necessary for maintenance of cell cycle exit during development.

Journal: Developmental biology
Published: November 28, 2015
Showing 1-11 of 11

Last Updated: 09/26/2026