Finnish disease heritage I
R Norio - Human genetics, 2003 - Springer
… Now the individual diseases will be described in detail and a table with numerical data will
be given in Part III of this review (Norio 2002b). In this Part I, the names of the diseases are …
be given in Part III of this review (Norio 2002b). In this Part I, the names of the diseases are …
Cohen syndrome: essential features, natural history, and heterogeneity
S Kivitie‐Kallio, R Norio - American journal of medical genetics, 2001 - Wiley Online Library
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 …
recessive disorder that is overrepresented in Finland. The diagnosis is based on the typical …
The Finnish disease heritage III: the individual diseases
R Norio - Human genetics, 2003 - Springer
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 described for clinical and molecular …
36 rare hereditary diseases belonging to this entity are described for clinical and molecular …
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
…, M Faham, M Koskiniemi, JA Warrington, R Norio… - Science, 1996 - science.org
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal
recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The …
recessive inherited form of epilepsy, previously linked to human chromosome 21q22.3. The …
[PDF][PDF] Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and …
…, R Perveen, S Kivitie-Kallio, R Norio… - The American Journal of …, 2003 - cell.com
Cohen syndrome is an uncommon autosomal recessive disorder whose diagnosis is based
on the clinical picture of nonprogressive psychomotor retardation and microcephaly, …
on the clinical picture of nonprogressive psychomotor retardation and microcephaly, …
Comparative PRKAR1A genotype–phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
…, E Legius, M Karttunen, R Norio… - Proceedings of the …, 2004 - National Acad Sciences
Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by cardiac
and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We …
and extracardiac myxomas in the setting of spotty skin pigmentation and endocrinopathy. We …
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
…, R Norio, G Avanzini, S Franceschetti, R Michelucci… - Nature …, 1997 - nature.com
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 …
autosomal recessive disorder that occurs with a low frequency in many populations but is more …
Progressive myoclonus epilepsy: a clinical and histopatliological study
…, M Donner, H Majuri, M Haltia, R Norio - Acta Neurologica …, 1974 - Wiley Online Library
The clinical picture and the progression of the disease in 93 cases of progressive myoclonus
epilepsy in Finland were analysed. The disease was familial in 25 out of 67 families. The …
epilepsy in Finland were analysed. The disease was familial in 25 out of 67 families. The …
Dominant inheritance of tooth malpositions and their association to hypodontia
E Svinhufvud, S Myllärniemi, R Norio - Clinical Genetics, 1988 - Wiley Online Library
Four kindreds with family‐specific malposition of cuspids were studied. Besides malposition
of cuspids, the members also showed varying combinations of other anomalies: malposition, …
of cuspids, the members also showed varying combinations of other anomalies: malposition, …
Finnish Disease Heritage II: population prehistory and genetic roots of Finns
R Norio - Human genetics, 2003 - Springer
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 as agriculture versus hunting/…
of Finland; factors influencing the genes of a population, such as agriculture versus hunting/…