User profiles for Gert Matthijs
Gert MatthijsKU Leuven Verified email at uzleuven.be Cited by 23999 |
Congenital disorders of glycosylation: a rapidly expanding disease family
J Jaeken, G Matthijs - Annu. Rev. Genomics Hum. Genet., 2007 - annualreviews.org
Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting
from defects in the synthesis of glycans and in the attachment of glycans to other compounds…
from defects in the synthesis of glycans and in the attachment of glycans to other compounds…
[HTML][HTML] Congenital disorders of glycosylation: a review
S Grünewald, G Matthijs, J Jaeken - Pediatric research, 2002 - nature.com
Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited
disorders caused by defects in the synthesis and processing of the asparagine (ASN)-linked …
disorders caused by defects in the synthesis and processing of the asparagine (ASN)-linked …
[HTML][HTML] Congenital disorders of glycosylation (CDG): Quo vadis?
The survey summarizes in its first part the current status of knowledge on the Congenital
Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and …
Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and …
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
…, I Hermans-Borgmeyer, E Legius, G Matthijs… - Nature …, 1998 - nature.com
Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's
disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective …
disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective …
[HTML][HTML] Guidelines for diagnostic next-generation sequencing
G Matthijs, E Souche, M Alders, A Corveleyn… - European Journal of …, 2016 - nature.com
We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines
for the evaluation and validation of next-generation sequencing (NGS) applications for …
for the evaluation and validation of next-generation sequencing (NGS) applications for …
Erythromycin is a motilin receptor agonist
T Peeters, G Matthijs, I Depoortere… - American Journal …, 1989 - journals.physiology.org
Erythromycin A (EMA) is a potent stimulator of gastrointestinal motor activity. In vitro studies
suggest that it mimics motilin, a peptide that stimulates motor activity in human and in rabbit …
suggest that it mimics motilin, a peptide that stimulates motor activity in human and in rabbit …
[PDF][PDF] Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
Hereditary lymphedema is a developmental disorder characterized by chronic swelling of the
extremities due to dysfunction of the lymphatic vessels. Two responsible genes have been …
extremities due to dysfunction of the lymphatic vessels. Two responsible genes have been …
[PDF][PDF] Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
…, J Macpherson, JL Mandel, G Matthijs… - The American Journal of …, 2003 - cell.com
The CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene (FMR1)
exhibits remarkable instability upon transmission from mothers with premutation alleles. …
exhibits remarkable instability upon transmission from mothers with premutation alleles. …
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type
H + ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin …
H + ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin …
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the
prototype of a class of genetic multisystem disorders characterized by defective glycosylation of …
prototype of a class of genetic multisystem disorders characterized by defective glycosylation of …