Anvendelse af mikromatriseteknologi ved psykomotorisk udviklinghæmning
- Prosjektnummer
- 911164
- Ansvarlig person
- Helle Lybæk
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Forskerutdanning - dr.grad
- Helsekategori
- Rehabilitation
- Forskningsaktivitet
- Klinisk forskning
Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.
Eur J Hum Genet 2008 Mai;16(11):1318-28. Epub 2008 mai 7
PMID: 18461090
A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.
Clin Genet 2008 Aug;74(6):553-9. Epub 2008 aug 18
PMID: 18717686
Characterisation of genomic imbalances.
Microarray Newsletter, Nr 01/2008.
"Array-CGH as a complementary tool for detection and mapping of chromosomal imbalances in patients with delayed psychomotor deve
Abstrakt. 3rd Marie Curie Conference on arrayCGH and Molecular Cytogenetics (array-CGH-MC), Leuven (B), 13 - 16 September, 2006.
"Usefulness of microarray technology for diagnostic purposes"
Abstrakt. 2nd ArrayCGH-MC workshop, Gent (B), 16 – 21 October 2006.
Use of microarray technology as a diagnostic tool
Abstract: 44th WTAC, High-Resolution Molecular Cytogenetics, Cambridge (UK), 27 Feb. - 4 Mars 2005.
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
Alle henvendelser rettes til Faglig rapportering, Helse Vest