Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition
Vierimaa, O., Villablanca, A., Alimov, A., Georgitsi, M., Raitila, A., Vahteristo, P., Larsson, C., Ruokonen, A., Eloranta, E., Ebeling, T. M. L., Ignatius, J., Aaltonen, L. A., Leisti, J., Salmela, P. I.
Published in Journal of endocrinological investigation (01.06.2009)
Published in Journal of endocrinological investigation (01.06.2009)
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Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism
Teh, B T, Kytölä, S, Farnebo, F, Bergman, L, Wong, F K, Weber, G, Hayward, N, Larsson, C, Skogseid, B, Beckers, A, Phelan, C, Edwards, M, Epstein, M, Alford, F, Hurley, D, Grimmond, S, Silins, G, Walters, M, Stewart, C, Cardinal, J, Khodaei, S, Parente, F, Tranebjaerg, L, Jorde, R, Salmela, P
Published in The journal of clinical endocrinology and metabolism (01.08.1998)
Published in The journal of clinical endocrinology and metabolism (01.08.1998)
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Characterization of the full fragile X syndrome mutation in fetal gametes
Malter, Henry E, Iber, Jane C, Willemsen, R, Graaff, Esther de, Tarleton, Jack C, Leisti, J, Warren, Stephen T, Oostra, Ben A
Published in Nature genetics (01.02.1997)
Published in Nature genetics (01.02.1997)
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Founder mutations and the high prevalence of myotonia congenita in northern Finland
Papponen, H, Toppinen, T, Baumann, P, Myllylä, V, Leisti, J, Kuivaniemi, H, Tromp, G, Myllylä, R
Published in Neurology (22.07.1999)
Published in Neurology (22.07.1999)
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Effect of Multiple Endocrine Neoplasia Type 1 (MEN1) Gene Mutations on Premature Mortality in Familial MEN1 Syndrome with Founder Mutations
Ebeling, T, Vierimaa, O, Kytölä, S, Leisti, J, Salmela, P. I
Published in The journal of clinical endocrinology and metabolism (01.07.2004)
Published in The journal of clinical endocrinology and metabolism (01.07.2004)
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Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families
Huusko, Pia, Pääkkönen, Kati, Launonen, Virpi, Pöyhönen, Minna, Blanco, Guillermo, Kauppila, Antti, Puistola, Ulla, Kiviniemi, Heikki, Kujala, Marika, Leisti, Jaakko, Winqvist, Robert
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Hereditary spinal neurofibromatosis: a rare form of NF1?
Poyhonen, M, Leisti, E L, Kytölä, S, Leisti, J
Published in Journal of medical genetics (01.03.1997)
Published in Journal of medical genetics (01.03.1997)
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Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
Tentler, D, Gustavsson, P, Leisti, J, Schueler, M, Chelly, J, Timonen, E, Annerén, G, Willard, H F, Dahl, N
Published in European journal of human genetics : EJHG (01.07.1999)
Published in European journal of human genetics : EJHG (01.07.1999)
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The Gene for a Recessively Inherited Human Childhood Progressive Epilepsy with Mental Retardation Maps to the Distal Short Arm of Chromosome 8
Tahvanainen, Esa, Ranta, Susanna, Hirvasniemi, Aune, Karila, Elvi, Leisti, Jaakko, Sistonen, Pertti, Weissenbach, Jean, Lehesjoki, Anna-Elina, dela Chapelle, Albert
Published in Proceedings of the National Academy of Sciences - PNAS (19.07.1994)
Published in Proceedings of the National Academy of Sciences - PNAS (19.07.1994)
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Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland
KYTÖLÄ, S, VILLABLANCA, A, EBELING, T, NORD, B, LARSSON, C, HÖÖG, A, WONG, F K, VÄLIMÄKI, M, VIERIMAA, O, TEH, B T, SALMELA, P I, LEISTI, J
Published in Journal of medical genetics (01.03.2001)
Published in Journal of medical genetics (01.03.2001)
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Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics
LAMBIRIS, N, PETERS, H, BOLLMANN, R, LESCHIK, G, LEISTI, J, SALONEN, R, COBET, G, OOSTRA, B. A, WILLEMSEN, R
Published in Human genetics (01.09.1999)
Published in Human genetics (01.09.1999)
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A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat
el-Rifai, W, Leisti, J, Kähkönen, M, Pietarinen, A, Altherr, M R, Knuutila, S
Published in Journal of medical genetics (01.01.1995)
Published in Journal of medical genetics (01.01.1995)
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Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero
Remes, A M, Rantala, H, Hiltunen, J K, Leisti, J, Ruokonen, A
Published in Pediatrics (Evanston) (01.04.1992)
Published in Pediatrics (Evanston) (01.04.1992)
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Identification of the familial cylindromatosis tumour-suppressor gene
Stratton, Michael R, Bignell, Graham R, Warren, William, Seal, Sheila, Takahashi, Meiko, Rapley, Elizabeth, Barfoot, Rita, Green, Helen, Brown, Carolanne, Biggs, Patrick J, Lakhani, Sunil R, Jones, Christopher, Hansen, Juliana, Blair, Edward, Hofmann, Benedikt, Siebert, Reiner, Turner, Gwen, Evans, D. Gareth, Schrander-Stumpel, Connie, Beemer, Frits A, van den Ouweland, Ans, Halley, Dicky, Delpech, Bertrand, Cleveland, Mark G, Leigh, Irene, Leisti, Jaakko, Rasmussen, Sonja, Wallace, Margaret R, Fenske, Christiane, Banerjee, Piu, Oiso, Naoki, Chaggar, Ranbir, Merrett, Samantha, Leonard, Niamh, Huber, Marcel, Hohl, Daniel, Chapman, Pam, Burn, John, Swift, Sally, Smith, Anna, Ashworth, Alan
Published in Nature genetics (01.06.2000)
Published in Nature genetics (01.06.2000)
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Prevalence of the fragile X syndrome in four birth cohorts of children of school age
Kähkönen, M, Alitalo, T, Airaksinen, E, Matilainen, R, Launiala, K, Autio, S, Leisti, J
Published in Human genetics (01.09.1987)
Published in Human genetics (01.09.1987)
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