Associated Papers
Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.
Han JY et al.
International Journal of Molecular Sciences, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM et al.
Journal of Medical Genetics, 2022
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J et al.
American Journal of Medical Genetics. Part A, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
A mutation in Asparagine-Linked Glycosylation 12 (ALG12) leads to receptor misglycosylation and attenuated responses to multiple microbial elicitors.
Trempel F et al.
Febs Letters, 2020
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L et al.
Glycoconjugate Journal, 2019
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Kranz C et al.
American Journal of Medical Genetics. Part A, 2007
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.
Eklund EA et al.
Molecular Genetics and Metabolism, 2005
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.
Di Rocco M et al.
Journal of Inherited Metabolic Disease, 2005
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
Grubenmann CE et al.
Human Molecular Genetics, 2002
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Léticée N et al.
Molecular Genetics and Metabolism, 0