Matches in UGent Biblio for { <https://biblio.ugent.be/publication/939699#aggregation> ?p ?o. }
Showing items 1 to 59 of
59
with 100 items per page.
- aggregation classification "A1".
- aggregation creator B373336.
- aggregation creator B373337.
- aggregation creator B373338.
- aggregation creator B373339.
- aggregation creator B373340.
- aggregation creator B373341.
- aggregation creator B373342.
- aggregation creator B373343.
- aggregation creator B373344.
- aggregation creator B373345.
- aggregation creator B373346.
- aggregation creator B373347.
- aggregation creator B373348.
- aggregation creator B373349.
- aggregation creator B373350.
- aggregation creator B373351.
- aggregation creator B373352.
- aggregation creator B373353.
- aggregation creator B373354.
- aggregation creator B373355.
- aggregation creator B373356.
- aggregation creator B373357.
- aggregation creator B373358.
- aggregation creator B373359.
- aggregation creator B373360.
- aggregation creator B373361.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2009".
- aggregation format "application/pdf".
- aggregation hasFormat 939699.bibtex.
- aggregation hasFormat 939699.csv.
- aggregation hasFormat 939699.dc.
- aggregation hasFormat 939699.didl.
- aggregation hasFormat 939699.doc.
- aggregation hasFormat 939699.json.
- aggregation hasFormat 939699.mets.
- aggregation hasFormat 939699.mods.
- aggregation hasFormat 939699.rdf.
- aggregation hasFormat 939699.ris.
- aggregation hasFormat 939699.txt.
- aggregation hasFormat 939699.xls.
- aggregation hasFormat 939699.yaml.
- aggregation isPartOf urn:issn:0146-0404.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Biology and Life Sciences".
- aggregation title "Genotyping microarray for CSNB-associated genes".
- aggregation abstract "PURPOSE. Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because of genetic heterogeneity, the uncertainty about the mode of inheritance, and time-consuming and costly mutation scanning and direct sequencing approaches. METHODS. To overcome these challenges and to generate a time-and cost-efficient mutation screening tool, the authors developed a CSNB genotyping microarray with arrayed primer extension (APEX) technology. To cover as many mutations as possible, a comprehensive literature search was performed, and DNA samples from a cohort of patients with CSNB were first sequenced directly in known CSNB genes. Subsequently, oligonucleotides were designed representing 126 sequence variations in RHO, CABP4, CACNA1F, CACNA2D4, GNAT1, GRM6, NYX, PDE6B, and SAG and spotted on the chip. RESULTS. Direct sequencing of genes known to be associated with CSNB in the study cohort revealed 21 mutations (12 novel and 9 previously reported). The resultant microarray containing oligonucleotides, which allow to detect 126 known and novel mutations, was 100% effective in determining the expected sequence changes in all known samples assessed. In addition, investigation of 34 patients with CSNB who were previously not genotyped revealed sequence variants in 18%, of which 15% are thought to be disease-causing mutations. CONCLUSIONS. This relatively inexpensive first-pass genetic testing device for patients with a diagnosis of CSNB will improve molecular diagnostics and genetic counseling of patients and their families and gives the opportunity to analyze whether, for example, more progressive disorders such as cone or cone-rod dystrophies underlie the same gene defects. (Invest Ophthalmol Vis Sci. 2009;50:5919-5926) DOI:10.1167/iovs.09-3548".
- aggregation authorList BK675069.
- aggregation endPage "5926".
- aggregation issue "12".
- aggregation startPage "5919".
- aggregation volume "50".
- aggregation aggregates 948701.
- aggregation isDescribedBy 939699.
- aggregation similarTo iovs.09-3548.
- aggregation similarTo LU-939699.