Publication list - Publika - Scientific publications from Oslo University Hospital

Publications by Øivind Juris Kanavin

19 publications found

Original articles

Kanavin ØJ, Fjermestad KW (2018)
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis
Orphanet J Rare Dis, 13 (1), 58
DOI 10.1186/s13023-018-0804-8, PubMed 29661209

Fjermestad KW, Nyhus L, Kanavin ØJ, Heiberg A, Hoxmark LB (2018)
Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
J Genet Couns, 27 (5), 1102-1110
DOI 10.1007/s10897-018-0229-5, PubMed 29429039

Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T (2018)
Effect of epilepsy on autism symptoms in Angelman syndrome
Mol Autism, 9, 2
DOI 10.1186/s13229-017-0185-1, PubMed 29340132

Fjermestad KW, Kanavin ØJ, Næss EE, Hoxmark LB, Hummelvoll G (2016)
Health survey of adults with hereditary spastic paraparesis compared to population study controls
Orphanet J Rare Dis, 11 (1), 98
DOI 10.1186/s13023-016-0469-0, PubMed 27412159

Vatne TM, Helmen IØ, Bahr D, Kanavin Ø, Nyhus L (2014)
"She came out of mum's tummy the wrong way". (Mis)conceptions among siblings of children with rare disorders
J Genet Couns, 24 (2), 247-58
DOI 10.1007/s10897-014-9757-9, PubMed 25190477

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Eur J Med Genet, 55 (12), 695-9
DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108

Kanavin ØJ, Strømme P (2010)
[Children with neurodegenerative disease]
Tidsskr Nor Laegeforen, 130 (15), 1489-92
DOI 10.4045/tidsskr.10.0020, PubMed 20706313

Strømme P, Suren P, Kanavin OJ, Rootwelt T, Woldseth B, Abdelnoor M, Magnus P (2009)
Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: a cohort study from Oslo, Norway
Eur J Paediatr Neurol, 14 (2), 138-45
DOI 10.1016/j.ejpn.2009.03.007, PubMed 19446480

Strømme P, Magnus P, Kanavin ØJ, Rootwelt T, Woldseth B, Abdelnoor M (2007)
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
Acta Paediatr, 97 (1), 35-40
DOI 10.1111/j.1651-2227.2007.00579.x, PubMed 18076719

Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P (2007)
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
J Med Case Rep, 1, 98
DOI 10.1186/1752-1947-1-98, PubMed 17883863

Stromme P, Kanavin OJ, Abdelnoor M, Woldseth B, Rootwelt T, Diderichsen J, Bjurulf B, Sommer F, Magnus P (2007)
Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study
BMC Pediatr, 7, 25
DOI 10.1186/1471-2431-7-25, PubMed 17597517

Kleppa L, Kanavin ØJ, Klungland A, Strømme P (2006)
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
Neuroscience, 145 (4), 1397-406
DOI 10.1016/j.neuroscience.2006.09.025, PubMed 17084038

Kanavin ØJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Strømme P (2006)
Microphthalmia and brain atrophy: a novel neurodegenerative disease
Ann Neurol, 59 (4), 719-23
DOI 10.1002/ana.20827, PubMed 16566018

Kanavin OJ, Aaseth J, Birketvedt GS (2000)
Thyroid hypofunction in Down's syndrome: is it related to oxidative stress?
Biol Trace Elem Res, 78 (1-3), 35-42
DOI 10.1385/BTER:78:1-3:35, PubMed 11314986

Kanavin OJ, Haug E, Gaarder PI (1988)
[Thyroid function in adults with Down's syndrome. A study from an institution]
Tidsskr Nor Laegeforen, 108 (10), 747-9
PubMed 2966454

Kanavin O, Scott H, Fausa O, Ek J, Gaarder PI, Brandtzaeg P (1988)
Immunological studies of patients with Down's syndrome. Measurements of autoantibodies and serum antibodies to dietary antigens in relation to zinc levels
Acta Med Scand, 224 (5), 473-7
PubMed 2974234

Kanavin OJ (1987)
[Hypothyroidism and celiac disease in an adult with mongolism]
Tidsskr Nor Laegeforen, 107 (12), 1030, 1036
PubMed 2955546