Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özsoy Ö et al.
Molecular Syndromology, 2023
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
Ibáñez-Micó S et al.
Neurologia, 2019
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Ng BG et al.
Jimd Reports, 2019
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong YY et al.
Cell, 2018
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F et al.
Annals of Human Genetics, 2018
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
Yuste-Checa P et al.
Plos One, 2017
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
Ganetzky R et al.
American Journal of Medical Genetics. Part A, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z et al.
European Journal of Human Genetics : Ejhg, 2013
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.
Imtiaz F et al.
Jimd Reports, 2012
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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