Perinatal cytomegalovirus infection in man.

Por Granström, M, Leinikki, P, Santavuori, P, Pettay, O
Publicado em 1977

46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.

Por Järvelä, I E, Salo, M K, Santavuori, P, Salonen, R K
Publicado em 1993

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Por Varilo, T., Savukoski, M., Norio, R., Santavuori, P., Peltonen, L., Järvelä, I.
Publicado em 1996

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Por Savukoski, M., Kestilä, M., Williams, R., Järvelä, I., Sharp, J., Harris, J., Santavuori, P., Gardiner, M., Peltonen, L.
Publicado em 1994

[18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis.

Por Ruottinen, H M, Rinne, J O, Haaparanta, M, Solin, O, Bergman, J, Oikonen, V J, Järvelä, I, Santavuori, P
Publicado em 1997

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Por Cormand, B, Avela, K, Pihko, H, Santavuori, P, Talim, B, Topaloglu, H, de la Chapelle, A, Lehesjoki, A E
Publicado em 1999

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

Por Mitchison, H M, O'Rawe, A M, Taschner, P E, Sandkuijl, L A, Santavuori, P, de Vos, N, Breuning, M H, Mole, S E, Gardiner, R M, Järvelä, I E
Publicado em 1995