Associated Papers
Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family.
Khan YN et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2024
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Hashmi JA et al.
Frontiers in Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R et al.
Plos One, 2021
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação M et al.
International Journal of Molecular Sciences, 2020
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Lehalle D et al.
American Journal of Medical Genetics. Part A, 2019
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt L et al.
Orphanet Journal of Rare Diseases, 2015
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
Riise Stensland HM et al.
Human Mutation, 2012
Select a paper to view details