Associated Papers
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.
Cheung ACT et al.
Molecular Genetics and Metabolism, 2025
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Malone KE et al.
Genetics in Medicine Open, 2025
Prenatal exome sequencing and impact on perinatal outcome: cohort study.
Poljak B et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2023
A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.
Lu P et al.
Translational Pediatrics, 2021
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Wang XM et al.
Stem Cell Research & Therapy, 2015
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.
Thoms S et al.
Bmc Medical Genetics, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
Crane DI et al.
Human Mutation, 2005
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.
Rosewich H et al.
Journal of Medical Genetics, 2005
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
Maxwell MA et al.
Human Mutation, 2002
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.
Preuss N et al.
Pediatric Research, 2002
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J et al.
Ear and Hearing, 0