about
ALG11-CDG: Three novel mutations and further characterization of the phenotype.From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR CongoClinical utility gene card for: ALG6 defective congenital disorder of glycosylation.Multiple phenotypes in phosphoglucomutase 1 deficiency.Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Guidelines for diagnostic next-generation sequencingAssociation between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.Critical points for an accurate human genome analysis.The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.Key features and clinical variability of COG6-CDG.Guidelines for diagnostic next-generation sequencing.Manganese-induced turnover of TMEM165.A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.Clinical utility gene card for: Phosphomannose isomerase deficiency.Clinical utility gene card for: Peters plus syndrome.Clinical utility gene card for: Phosphomannomutase 2 deficiency.Correction: COG5-CDG: expanding the clinical spectrum.Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.Galactose Epimerase Deficiency: Expanding the Phenotype.Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.Investigating the function of Gdt1p in yeast Golgi glycosylation.Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Congenital disorders of glycosylation (CDG): Quo vadis?Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.PMM2-CDG and sensorineural hearing loss.Patient with confirmed LEOPARD syndrome developing multiple melanoma.A case with rare type of congenital disorder of glycosylation: PGM1-CDG.Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasisUse of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients
P50
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P50
description
researcher
@en
name
Gert Matthijs
@en
type
label
Gert Matthijs
@en
prefLabel
Gert Matthijs
@en
P31
P496
0000-0001-6710-1912