R Norio
Overview
Explore the profile of R Norio including associated specialties, affiliations and a list of published articles.
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85
Citations
1005
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Recent Articles
1.
Pulli K, Karma K, Norio R, Sistonen P, Goring H, Jarvela I
J Med Genet
. 2008 Apr;
45(7):451-6.
PMID: 18424507
Background: Music perception and performance are comprehensive human cognitive functions and thus provide an excellent model system for studying human behaviour and brain function. However, the molecules involved in mediating...
2.
Kivitie-Kallio S, Norio R
Am J Med Genet
. 2001 Jul;
102(2):125-35.
PMID: 11477603
This article elucidates the clinical picture in Cohen syndrome (MIM 216550), an autosomal recessive disorder that is overrepresented in Finland. The diagnosis is based on the typical clinical picture: nonprogressive...
3.
Kivitie-Kallio S, Summanen P, Raitta C, Norio R
Ophthalmology
. 2000 Aug;
107(9):1737-45.
PMID: 10964838
Objective: To determine the nature and course of ophthalmologic abnormalities and their clinical significance in Cohen syndrome. Study Design: Observational case series. Participants: Twenty-two Cohen syndrome patients aged 2 to...
4.
Kivitie-Kallio S, Larsen A, Kajasto K, Norio R
Neuropediatrics
. 1999 Nov;
30(4):181-9.
PMID: 10569209
Our purpose was to perform the first systematic neurological, neurophysiological and psychological study of 18 patients with Cohen syndrome (MIM no 216550), aged 11 months to 57 years (median 27...
5.
Kivitie-Kallio S, Eronen M, Lipsanen-Nyman M, MARTTINEN E, Norio R
Clin Genet
. 1999 Aug;
56(1):41-50.
PMID: 10466416
Cohen syndrome (MIM no. 216550) is an autosomal recessive disorder with a typical clinical picture. Since the first report, most publications have represented single case reports. In this study, our...
6.
Kivitie-Kallio S, Autti T, Salonen O, Norio R
Neuropediatrics
. 1999 Feb;
29(6):298-301.
PMID: 10029348
Our purpose was to perform the first systematic brain magnetic resonance imaging (MRI) study of a substantial number of Cohen syndrome (MIM n:o 216550) patients. 18 Cohen patients and 26...
7.
Hemminki A, Hoglund P, Pukkala E, Salovaara R, Jarvinen H, Norio R, et al.
Oncogene
. 1998 Mar;
16(5):681-4.
PMID: 9482116
A recent study has revealed that germline mutations of the down-regulated in adenoma (DRA) gene are a likely cause of a recessive intestinal absorption defect, congenital chloride diarrhea. This finding...
8.
Kivitie-Kallio S, Rajantie J, Juvonen E, Norio R
Br J Haematol
. 1997 Aug;
98(2):308-11.
PMID: 9266925
Cohen syndrome is an autosomal recessive disorder characterized by mental retardation, microcephalia and typical craniofacial features, myopia and chorioretinal dystrophy. As some patients were reported to have leucopenia, we collected...
9.
Kolehmainen J, Norio R, Kivitie-Kallio S, Tahvanainen E, de la Chapelle A, Lehesjoki A
Eur J Hum Genet
. 1997 Jul;
5(4):206-13.
PMID: 9359041
The Cohen syndrome is a rare autosomal recessively inherited disorder. Contrary to many case reports published elsewhere, the phenotype is uniform in Finland including nonprogressive mental and motor retardation, typical...
10.
Virtaneva K, DAmato E, Miao J, Koskiniemi M, Norio R, Avanzini G, et al.
Nat Genet
. 1997 Apr;
15(4):393-6.
PMID: 9090386
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder that occurs with a low frequency in many populations but is more common in Finland and...