Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.
Du K et al.
Cerebellum (london, England), 2026
Information Theory Analysis of CTX Shows Consistent Clinical Presentation.
Hanson J et al.
Journal of Inherited Metabolic Disease, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis.
Guoliang Y et al.
Frontiers in Neurology, 2025
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
Fussiger H et al.
Clinical Genetics, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Cerebrotendinous xanthomatosis with tremor as the main manifestation: A case report.
Zhao W et al.
Medicine, 2024
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.
Köroğlu M et al.
Orphanet Journal of Rare Diseases, 2024
Cerebrotendinous xanthomatosis: a literature review and case study.
Matta A et al.
Frontiers in Cardiovascular Medicine, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history.
Öncel Acır N et al.
Ophthalmic Genetics, 2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
[Clinical and genetics characteristics of adult-onset cerebrotendinous xanthomatosis: analysis of a Chinese pedigree].
Zhao B et al.
Zhonghua Nei Ke Za Zhi, 2023
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Badura-Stronka M et al.
Clinical Genetics, 2022
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I et al.
Molecular Genetics and Metabolism Reports, 2021
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.
Cao LX et al.
World Journal of Clinical Cases, 2020
The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
Fan F et al.
Bmc Ophthalmology, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis.
Li J et al.
Movement Disorders Clinical Practice, 2020
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.
Jiang J et al.
Frontiers in Genetics, 2020
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Tao QQ et al.
Orphanet Journal of Rare Diseases, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
Stelten BML et al.
Journal of Inherited Metabolic Disease, 2018
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Wang NL et al.
Plos One, 2016
Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.
Khan AO et al.
Ophthalmology, 2013
[Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder].
Delstanche S et al.
Revue Medicale De Liege, 2013
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.
Aldahmesh MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations.
Chang CC et al.
Bmc Neurology, 2010
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
Gallus GN et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2006
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
Clayton PT et al.
Journal of Inherited Metabolic Disease, 2002
Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.
Lee MH et al.
Journal of Lipid Research, 2001
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Verrips A et al.
Brain : a Journal of Neurology, 2000
[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
Lionnet C et al.
Revue Neurologique, 0