UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis von Rapakko, Katrin, Kokkonen, Hannaleena, Leisti, Jaakko

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A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency von REMES, Anne M, FILPPULA, Sirpa A, RANTALA, Heikki, LEISTI, Jaakko, RUOKONEN, Aimo, SHARMA, Satyan, JUFFER, André H, HILTUNEN, J. Kalervo

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Genome-wide scanning for linkage in Finnish breast cancer families von 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

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The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes von Haataja, Rutva, V is nen, Marja-Leena, Li, Muyao, Ryyn nen, Markku, Leisti, Jaakko

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IDENTIFICATION OF A COMMON MUTATION IN FINNISH PATIENTS WITH NONKETOTIC HYPERGLYCINEMIA von KURE, S, TAKAYANAGI, M, NARISAWA, K, TADA, K, LEISTI, J

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Muscle-eye-brain disease (MEB) von Santavuori, Pirkko, Somer, Hannu, Sainio, Kimmo, Rapola, Juhani, Kruus, Sirkka, Nikitin, Tuija, Ketonen, Leena, Leisti, Jaakko

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Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis von Männikkö, Minna, Kestilä, Marjo, Lenkkeri, Ulla, Alakurtti, Heli, Holmberg, Christer, Leisti, Jaakko, Salonen, Riitta, Aula, Pertti, Mustonen, Aki, Peltonen, Leena, Tryggvason, Karl

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Erratum: Genome-wide scanning for linkage in Finnish breast cancer families von 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

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A molecular and cytogenetic study in Finnish Prader-Willi patients von KOKKONEN, H, KÄHKÖNEN, M, LEISTI, J

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Comparative genomic hybridization studies in tumours from a patient with multiple endocrine neoplasia type 1 von Kytola, S, Makinen, MJ, Kahkonen, M, Teh, BT, Leisti, J, Salmela, P

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Epidemiology of Moderate to Profound Childhood Hearing Impairments in Northern Finland. Any Changes in Ten Years? von Mäki-Torkko, Elina M., Lindholm, Päivi K., Väyrynen, Mirja R.H., Leisti, Jaakko T., Sorri, Martti J.

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Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus von Vuopala, K, Mäkelä-Bengs, P, Suomalainen, A, Herva, R, Leisti, J, Peltonen, L

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Diagnosis of fragile X syndrome by direct mutation analysis von VÄISÄNEN, M.-L, KÄHKÖNEN, M, LEISTI, J

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Uridine enhances expression of the fragile X chromosome in human lymphocytes von KÄHKÖNEN, M, HAATAJA, R, LEISTI, J

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Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the finnish population von NOKELAINEN, P, ALANEN-KURKI, L, WINQVIST, R, FALCK, B, SOMER, H, LEISTI, J, JOHNSON, K, SAVONTAUS, M.-L, PELTONEN, L

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Carrier detection of the fragile X syndrome with flanking RFLP markers and linkage analysis von Väisänen, Marja-Leena, Kähkönen, Marketta, Leisti, Jaakko

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Second trimester prenatal diagnosis of the fragile X von Tommerup, Niels, Aula, Pertti, Gustavii, Björn, Heiberg, Arvid, Holmgren, Gösta, von Koskull, Harriet, Leisti, Jaakko, Mikkelsen, Margareta, Mitelman, Felix, Nielsen, Karen B., Steinbach, Peter, Stengel-Rutkowski, Sabine, Wahlström, Jan, Zang, Klaus, Zankl, Merve, Opitz, John M., Reynolds, James F.

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Two-hour adrenocorticotropic hormone test: accuracy in the evaluation of the hypothalamic-pituitary-adrenocortical axis von Leisti, S, Perheentupa, J

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Function tests: determination of precision and criteria of response, and comparison between different tests von Leisti, Seppo, Perheentupa, Jaakko

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