Search Results - "NORIO, R"

Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22 by Pulli, K, Karma, K, Norio, R, Sistonen, P, Göring, H H H, Järvelä, I

“…Music perception and performance are comprehensive human cognitive functions and thus provide an excellent model system for studying human behaviour and brain…”
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Finnish Disease Heritage I: characteristics, causes, background by NORIO, Reijo

“…This review of the Finnish Disease Heritage (FDH), a group of rare hereditary diseases that are overrepresented in Finland, includes the following topics: FDH…”
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The age of human mutation : Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the finnish population by VARILO, T, SAVUKOSKI, M, NORIO, R, SANTAVUORI, P, PELTONEN, L, JÄRVELÄ, I

“…Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part…”
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MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly by Kivitie-Kallio, S, Autti, T, Salonen, O, Norio, R

“…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)…”
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Localization of a Gene for Progressive Myoclonus Epilepsy to Chromosome 21q22 by LEHESIOKI, A.-E, KOSKINIEMI, M, SISTONEN, P, JINMIN MIAO, HASTBACKA, J, NORIO, R, DE LA CHAPELLE, A

“…Progressive myoclonus epilepsy of Unverricht-Lundborg type is a clinically defined entity among the progressive myoclonus epilepsies. It is an autosomal…”
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Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years by Kivitie-Kallio, S, Larsen, A, Kajasto, K, Norio, R

“…Our purpose was to perform the first systematic neurological, neurophysiological and psychological study of 18 patients with Cohen syndrome (MIM no 216550),…”
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Intimal thickening of the coronary arteries in infants in relation to family history of coronary artery disease by KAPRIO, J, NORIO, R, PESONEN, E, SARNA, S

“…Intimal thickenings of the coronary arteries of newborn children are composed mainly of smooth muscle cell proliferations. To investigate whether thickening of…”
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Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) by Salonen, R, Somer, M, Haltia, M, Lorentz, M, Norio, R

“…We describe 14 patients, from 11 families, who have a progressive encephalopathy with early onset. The clinical signs of the disease are severe hypotonia,…”
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PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings by Somer, M, Salonen, O, Pihko, H, Norio, R

“…To investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) symptom complex…”
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The Finnish disease heritage III: the individual diseases by NORIO, Reijo

“…This article is the third and last in a series entitled The Finnish Disease Heritage I-III. All the 36 rare hereditary diseases belonging to this entity are…”
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Finnish Disease Heritage II: population prehistory and genetic roots of Finns by NORIO, Reijo

“…In the second part of my review of the Finnish Disease Heritage (FDH), I discuss the settling of Finland; factors influencing the genes of a population, such…”
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Linkage studies in progressive myoclonus epilepsy : Unverricht-Lundborg and Lafora's diseases by LEHESJOKI, A.-E, KOSHINIEMI, M, DE LA CHAPELLE, A, PANDOLFO, M, ANTONELLI, A, KYELLERMAN, M, WAHLSTRÖM, J, NERGÅRDH, A, BURMEISTER, M, SISTONEN, P, NORIO, R

“…The progressive myoclonus epilepsies (PME) are a heterogeneous group of rare genetic disorders. Unverricht-Lundborg disease and Lafora's disease are two major…”
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Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data by KAARIAINEN, H, KOSKIMIES, O, NORIO, R

“…The clinical features and laboratory data of 93 children with polycystic kidney disease were analysed. Family studies showed that the disease was dominant…”
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Evaluation of genetic counselling: recall of information, post-counselling reproduction, and attitude of the counsellees by Somer, M, Mustonen, H, Norio, R

“…Of the families who had received genetic counselling between 1972 and 1981, 791 replied to a questionnaire which covered recall of information,…”
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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport by Kolehmainen, Juha, Black, Graeme C.M., Saarinen, Anne, Chandler, Kate, Clayton-Smith, Jill, Träskelin, Ann-Liz, Perveen, Rahat, Kivitie-Kallio, Satu, Norio, Reijo, Warburg, Mette, Fryns, Jean-Pierre, Chapelle, Albert de la, Lehesjoki, Anna-Elina

“…Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and…”
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Monoamine oxidase deficiency in males with an X chromosome deletion by Sims, K B, de la Chapelle, A, Norio, R, Sankila, E M, Hsu, Y P, Rinehart, W B, Corey, T J, Ozelius, L, Powell, J F, Bruns, G

“…Mapping of the human MAOA gene to chromosomal region Xp21-p11 prompted our study of two affected males in a family previously reported to have Norrie disease…”
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Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives by Furu, T, Kääriäinen, H, Sankila, E M, Norio, R

“…Genetic counselling endeavours to be nondirective. However, the availability of prenatal diagnosis may direct clients towards accepting and using these…”
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Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase by Murphy, D L, Sims, K B, Karoum, F, de la Chapelle, A, Norio, R, Sankila, E M, Breakefield, X O

“…Urinary and plasma amines and amine metabolites were quantified in two individuals with Norrie disease resulting from a deletion in chromosomal region Xp11.3,…”
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Intimal thickening in the coronary arteries of infants and children as an indicator of risk factors for coronary heart disease by Pesonen, E, Norio, R, Hirvonen, J, Karkola, K, Kuusela, V, Laaksonen, H, Möttönen, M, Nikkari, T, Raekallio, J, Viikari, J

“…Narrowings of the coronary arteries were measured in 94 infants aged less than 1 year who died in hospital and 102 1- to 16-year-old children who died…”
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Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients by Norio, R, Koskiniemi, M

“…In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was…”
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