Blar i forfatter "Østern, Rune André Helland"
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Charcot-Marie-Tooth disease (CMT): statistical analysis and revision of molecular genetic diagnostics in a patient population and identification of the disease locus in a large Norwegian family with CMT.
Østern, Rune André Helland (Doctoral thesis; Doktorgradsavhandling, 2014-09-19)CMT is a common inherited disease of the peripheral nerves that may be caused by mutations in multiple genes, most are rare. Our aim was to describe the spectrum of mutations and genes in Norwegian CMT patients, identify factors associated with diagnostic findings, revise the testprotocol, and evaluate the assessments of genetic variants of uncertain clinical significance. Furthermore, we searched ... -
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
Østern, Rune André Helland; Fagerheim, Toril; Hjellnes, Helene; Nygård, Bjørn; Mellgren, Svein Ivar; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2013)The importance of diagnosing and treating co-occurring psychiatric disorders among substance abusers in treatment has received much attention. The aim of this study was to investigate to which extent co-occurring psychiatric disorders are diagnosed in a clinical population of substance abusers, and which factors (including the use of MINI-Plus) that influence the diagnosing of co-occurring psychiatric ... -
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
Østern, Rune André Helland; Fagerheim, Toril; Hjellnes, Helene; Nygård, Bjørn; Mellgren, Svein Ivar; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2014)