Blar i Bergen Open Research Archive på forfatter "Lybæk, Helle"
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Characterisation of genomic imbalances in patients with mental retardation
Lybæk, Helle (Doctoral thesis, 2009-03-20)A major cause of mental retardation is chromosomal abnormalities, but due to low sensitivity of conventional chromosomal karyotyping, these abnormalities may stay undetected, and the etiology of the impairment remains ... -
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions
Lybæk, Helle; Robson, Michael; de Leeuw, Nicole; Hehir-Kwa, Jayne Y.; Jeffries, Aaron; Haukanes, Bjørn Ivar; Berland, Siren; de Bruijn, Diederik; Mundlos, Stefan; Spielmann, Malte; Houge, Gunnar Douzgos (Journal article; Peer reviewed, 2022)LRFN5 is a regulator of synaptic development and the only gene in a 5.4 Mb mammalian-specific conserved topologically associating domain (TAD); the LRFN5 locus. An association between locus structural changes and developmental ... -
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?
Houge, Gunnar; Lybæk, Helle; Gulati, Sasha (Peer reviewed; Journal article, 2009-05-18)Background: Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations. Case presentation: In a markedly dysmorphic child with heart malformations and developmental delay, CGH ...