Publicaties
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Inter-laboratory diagnostic validation of conformation sensitive capillary electrophoresis KU Leuven
Multi-system disorder syndromes associated with cystinuria type I KU Leuven
Cystinuria type I is an autosomal recessive disorder with an exclusively renal phenotype caused by inactivating mutations in SLC3A1. Recently 3 similar but distinct syndromes associated with cystinuria type I have been described: 2p21 deletion syndrome, Hypotonia-Cystinuria Syndrome (HCS) and atypical HCS. Genetic analysis indicated that these are recessive contiguous gene deletion syndromes which differ in the number of genes affected. Patients ...
Introduction KU Leuven
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation KU Leuven
Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been described so far. Here, we report on two genes involved in autosomal-recessive and X-linked NSMR. First, autozygosity mapping in two sibs born to first-cousin French parents led to the identification of ...
Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation KU Leuven
Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been described so far. Here, we report on two genes involved in autosomal-recessive and X-linked NSMR. First, autozygosity mapping in two sibs born to first-cousin French parents led to the identification of ...
Deletion of C2orf34, PREPL and SLC3A1 causes atypical Hypotonia-Cystinuria Syndrome KU Leuven
BACKGROUND: Hypotonia-Cystinuria syndrome (HCS) and 2p21 deletion syndrome are 2 recessive contiguous gene deletion syndromes associated with cystinuria type I. The deletions differ in size and the number of genes involved. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome 2 additional genes (C2orf34 and PPM1B) are lost. OBJECTIVE: Clinical and molecular analysis of 2 siblings who presented with an atypical HCS ...
Introduction KU Leuven
Patenting and licensing in genetic testing KU Leuven
Patents for inventions can be beneficial for society, if they drive innovation and promote progress. In most areas, the patenting system works satisfactorily. However, it must be recognized that in some instances it can also be problematic; this is the case in the field of genetics, and particularly in the area of genetic testing. As patents should serve their original purpose (promoting innovation through a fair reward system for the ...