Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
Su X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients.
Huang YH et al.
Scientific Data, 2021
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S et al.
Journal of Clinical Medicine, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.
Lin Y et al.
Bmj Open Diabetes Research & Care, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.
Zhang Y et al.
Medicine, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S et al.
Neurogenetics, 2019
Congenital generalized lipodystrophy in Taiwan.
Hsu RH et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2019
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
Chen R et al.
Gene, 2017
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
Rahman OU et al.
Diagnostic Pathology, 2013
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.
Huang HH et al.
The Kaohsiung Journal of Medical Sciences, 2010
Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.
Wu YR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009