Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland

Por POYHONEN, M, KYTOLA, S, LEISTI, J
Publicado em 2000

Two chromosome fragments in a child with Down's syndrome and transient chromosome aberrations in the mother.

Por Knuutila, S, Leisti, J, Salunen, R, Rossi, L
Publicado em 1983

Myotonia congenita in northern Finland: an epidemiological and genetic study.

Por Baumann, P, Myllylä, V V, Leisti, J
Publicado em 1998

Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.

Por Väisänen, M. L., Haataja, R., Leisti, J.
Publicado em 1996

Hereditary spinal neurofibromatosis: a rare form of NF1?

Por Poyhonen, M, Leisti, E L, Kytölä, S, Leisti, J
Publicado em 1997

Interferon response of lymphocytes in disorders with decreased resistance to infections

Por Strander, H., Cantell, K., Leisti, J., Nikkila, E.
Publicado em 1970

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

Por Leisti, J T, Kaback, M M, Rimoin, D L
Publicado em 1975

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

Por Kure, S, Takayanagi, M, Narisawa, K, Tada, K, Leisti, J
Publicado em 1992

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Por Hirvasniemi, A, Lang, H, Lehesjoki, A E, Leisti, J
Publicado em 1994

Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18.

Por Leisti, J, Leisti, S, Perheentupa, J, Savilahti, E, Aula, P
Publicado em 1973

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

Por Jukkola, A, Kauppila, S, Risteli, L, Vuopala, K, Risteli, J, Leisti, J, Pajunen, L
Publicado em 1998

Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.

Por Vuopala, K, Mäkelä-Bengs, P, Suomalainen, A, Herva, R, Leisti, J, Peltonen, L
Publicado em 1995

A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.

Por el-Rifai, W, Leisti, J, Kähkönen, M, Pietarinen, A, Altherr, M R, Knuutila, S
Publicado em 1995

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.

Por Tahvanainen, E, Ranta, S, Hirvasniemi, A, Karila, E, Leisti, J, Sistonen, P, Weissenbach, J, Lehesjoki, A E, de la Chapelle, A
Publicado em 1994

Evidence of founder mutations in Finnish BRCA1 and BRCA2 families.

Por Huusko, P, Pääkkönen, K, Launonen, V, Pöyhönen, M, Blanco, G, Kauppila, A, Puistola, U, Kiviniemi, H, Kujala, M, Leisti, J, Winqvist, R
Publicado em 1998

Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland

Por KYTOLA, S, VILLABLANCA, A, EBELING, T, NORD, B, LARSSON, C, HOOG, A, WONG, F, VALIMAKI, M, VIERIMAA, O, TEH, B, SALMELA, P, LEISTI, J
Publicado em 2001