Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.
Wang Y et al.
Frontiers in Genetics, 2025
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
A murine model of BSCL2-associated Celia's encephalopathy.
Cobelo-Gómez S et al.
Neurobiology of Disease, 2023
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Role of Seipin in Human Diseases and Experimental Animal Models.
Li Y et al.
Biomolecules, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
A Novel, Heterozygous BSCL2 Variant in Association With Early-Onset Epileptic Encephalopathy.
Stanley NE et al.
Journal of Neuropathology and Experimental Neurology, 2022
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
Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.
Pedicelli S et al.
Italian Journal of Pediatrics, 2020
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.
Ortigoza-Escobar JD
Frontiers in Neurology, 2020
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Fernández-Marmiesse A et al.
Seizure, 2019
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y et al.
European Journal of Medical Genetics, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S et al.
Neurogenetics, 2019
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
Chen R et al.
Gene, 2017
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
Su X et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
Opri R et al.
Seizure, 2016