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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Chromosome Aberrations in Lymphocytes of Nurses Handling Cytostatic Agents
Nikula, Eeva, Kiviniitty, Kalevi, Leisti, Jaakko, Taskinen, Pentti J
Published in Scandinavian Journal of Work, Environment & Health (01.04.1984)
Published in Scandinavian Journal of Work, Environment & Health (01.04.1984)
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DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer
Nyström-Lahti, Minna, Wu, Ying, Moisio, Anu-Liisa, Hofstra, Robert M. W., Osinga, Jan, Mecklin, Jukka-Pekka, Järvinen, Heikki J., Leisti, Jaakko, Buys, Charles H. C. M., de la Chapelle, Albert, Peltomäki, Päivi
Published in Human molecular genetics (01.06.1996)
Published in Human molecular genetics (01.06.1996)
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Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland
Löppönen, Tuija, Väisänen, Marja-Leena, Luotonen, Mirja, Allinen, Minna, Uusimaa, Johanna, Lindholm, Päivi, Mäki-Torkko, Elina, Väyrynen, Mirja, Löppönen, Heikki, Leisti, Jaakko
Published in The Laryngoscope (01.10.2003)
Published in The Laryngoscope (01.10.2003)
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A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency
REMES, Anne M, FILPPULA, Sirpa A, RANTALA, Heikki, LEISTI, Jaakko, RUOKONEN, Aimo, SHARMA, Satyan, JUFFER, André H, HILTUNEN, J. Kalervo
Published in Journal of molecular medicine (Berlin, Germany) (01.08.2004)
Published in Journal of molecular medicine (Berlin, Germany) (01.08.2004)
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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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Genome-wide scanning for linkage in Finnish breast cancer families
HUUSKO, Pia, HANK JUO, Suh-Hang, MARKEY, Carol, VEHMANEN, Paula, GILDEA, Derek, FREAS-LUTZ, Diane, BLOMQVIST, Carl, LEISTI, Jaakko, BLANCO, Guillermo, PUISTOLA, Ulla, TRENT, Jeffrey, BAILEY-WILSON, Joan, GILLANDERS, Elizabeth, WINQVIST, Robert, NEVANLINNA, Heli, KALLIONIEMI, Olli-P, SARANTAUS, Laura, KAINU, Tommi, VAHTERISTO, Pia, ALLINEN, Minna, JONES, Marypat, RAPAKKO, Katrin, EEROLA, Hannaleena
Published in European journal of human genetics : EJHG (01.02.2004)
Published in European journal of human genetics : EJHG (01.02.2004)
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Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration
Hirvasniemi, A, Lang, H, Lehesjoki, A E, Leisti, J
Published in Journal of medical genetics (01.03.1994)
Published in Journal of medical genetics (01.03.1994)
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Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
KURE, S, TAKAYANAGI, M, NARISAWA, K, TADA, K, LEISTI, J
Published in The Journal of clinical investigation (01.07.1992)
Published in The Journal of clinical investigation (01.07.1992)
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A lethal autosomal recessive syndrome of multiple congenital contractures
Herva, R, Leisti, J, Kirkinen, P, Seppänen, U
Published in American journal of medical genetics (01.03.1985)
Published in American journal of medical genetics (01.03.1985)
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Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
Shelbourne, P, Winqvist, R, Kunert, E, Davies, J, Leisti, J, Thiele, H, Bachmann, H, Buxton, J, Williamson, B, Johnson, K
Published in Human molecular genetics (01.10.1992)
Published in Human molecular genetics (01.10.1992)
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Erratum: Genome-wide scanning for linkage in Finnish breast cancer families
Huusko, Pia, Juo, Suh-Hang Hank, Gillanders, Elizabeth, Sarantaus, Laura, Kainu, Tommi, Vahteristo, Pia, Allinen, Minna, Jones, MaryPat, Rapakko, Katrin, Eerola, Hannaleena, Markey, Carol, Vehmanen, Paula, Gildea, Derek, Freas-Lutz, Diane, Blomqvist, Carl, Leisti, Jaakko, Blanco, Guillermo, Puistola, Ulla, Trent, Jeffrey, Bailey-Wilson, Joan, Winqvist, Robert, Nevanlinna, Heli, Kallioniemi, Olli-P
Published in European journal of human genetics : EJHG (20.02.2004)
Published in European journal of human genetics : EJHG (20.02.2004)
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Journal Article
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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Journal Article
Muscle-eye-brain disease (MEB)
Santavuori, Pirkko, Somer, Hannu, Sainio, Kimmo, Rapola, Juhani, Kruus, Sirkka, Nikitin, Tuija, Ketonen, Leena, Leisti, Jaakko
Published in Brain & development (Tokyo. 1979) (1989)
Published in Brain & development (Tokyo. 1979) (1989)
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New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV
Jukkola, A, Kauppila, S, Risteli, L, Vuopala, K, Risteli, J, Leisti, J, Pajunen, L
Published in Journal of medical genetics (01.06.1998)
Published in Journal of medical genetics (01.06.1998)
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Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis
Männikkö, Minna, Kestilä, Marjo, Lenkkeri, Ulla, Alakurtti, Heli, Holmberg, Christer, Leisti, Jaakko, Salonen, Riitta, Aula, Pertti, Mustonen, Aki, Peltonen, Leena, Tryggvason, Karl
Published in Kidney international (01.03.1997)
Published in Kidney international (01.03.1997)
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Conference Proceeding
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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