Associated Papers
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.
Theunis M et al.
Ophthalmic Genetics, 2026
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.
Vasiljevic E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
Schieferdecker A et al.
International Journal of Molecular Sciences, 2019
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
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Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.
Tran C et al.
Pediatric Neurology, 2014
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.
Majewski J et al.
Journal of Medical Genetics, 2011
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Ebberink MS et al.
Human Mutation, 2010
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Raas-Rothschild A et al.
American Journal of Human Genetics, 2002
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