Associated Papers
Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort.
Eser M et al.
Neurogenetics, 2025
Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features.
Özgün N et al.
Iranian Journal of Child Neurology, 2025
A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.
Qi R et al.
Frontiers in Endocrinology, 2025
Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Wang Q et al.
Bmc Medical Genomics, 2023
Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome.
Zhalsanova IZ et al.
International Journal of Molecular Sciences, 2022
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
Okamoto N et al.
Cells, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Kemme L et al.
Jimd Reports, 2021
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
Balasubramanian M et al.
European Journal of Medical Genetics, 2019
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
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
Gupta S et al.
Cold Spring Harbor Molecular Case Studies, 2016
N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
Saldova R et al.
Journal of Proteome Research, 2015
ERManI (Endoplasmic Reticulum Class I α-Mannosidase) Is Required for HIV-1 Envelope Glycoprotein Degradation via Endoplasmic Reticulum-associated Protein Degradation Pathway.
Zhou T et al.
The Journal of Biological Chemistry, 2015
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
Hoffjan S et al.
Molecular Syndromology, 2015
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M et al.
Brain : a Journal of Neurology, 2014
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq MA et al.
American Journal of Human Genetics, 2011
A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases.
Iskafi R et al.
Journal of Investigative Medicine High Impact Case Reports, 0