Associated Papers
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage2-Class4-5_variants
Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.
Kaymak D et al.
American Journal of Medical Genetics. Part A, 2023
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Besse W et al.
Journal of the American Society of Nephrology : Jasn, 2019
ALG9-CDG: New clinical case and review of the literature.
Davis K et al.
Molecular Genetics and Metabolism Reports, 2017
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.
Marques-da-Silva D et al.
Journal of Inherited Metabolic Disease, 2017
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E et al.
European Journal of Human Genetics : Ejhg, 2016
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.
Vleugels W et al.
Glycobiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
Weinstein M et al.
American Journal of Medical Genetics. Part A, 2005
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