P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity
Evila, A, Vihola, A, Sarparanta, J, Raheem, O, Sandell, S, Eymard, B, Illa, I, Rojas-Garcia, R, Hankiewicz, K, Negrao, L, Lopponen, T, Nokelainen, P, Karppa, M, Penttila, S, Screen, M, Suominen, T, Richard, I, Hackman, P, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland
Sarantaus, L, Huusko, P, Eerola, H, Launonen, V, Vehmanen, P, Rapakko, K, Gillanders, E, Syrjäkoski, K, Kainu, T, Vahteristo, P, Krahe, R, Pääkkönen, K, Hartikainen, J, Blomqvist, C, Löppönen, T, Holli, K, Ryynänen, M, Bützow, R, Borg, A, Wasteson Arver, B, Holmberg, E, Mannermaa, A, Kere, J, Kallioniemi, O P, Winqvist, R, Nevanlinna, H
Published in European journal of human genetics : EJHG (01.10.2000)
Published in European journal of human genetics : EJHG (01.10.2000)
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Reduced levels of growth hormone, insulin-like growth factor-I and binding protein-3 in patients with shunted hydrocephalus
Löppönen, Tuija, Saukkonen, Anna-Liisa, Serlo, Willy, Tapanainen, Päivi, Ruokonen, Aimo, Knip, Mikael
Published in Archives of disease in childhood (01.07.1997)
Published in Archives of disease in childhood (01.07.1997)
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Accelerated pubertal development in patients with shunted hydrocephalus
Löppönen, T, Saukkonen, A L, Serlo, W, Tapanainen, P, Ruokonen, A, Knip, M
Published in Archives of disease in childhood (01.06.1996)
Published in Archives of disease in childhood (01.06.1996)
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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Snoeckx, Rikkert L., Huygen, Patrick L.M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W.R.J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J.H., Van Camp, Guy
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
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Pituitary function in children with hydrocephalus before and after the first shunting operation
Lopponen, T, Saukkonen, AL, Serlo, W, Tapanainen, P, Ruokonen, A, Lanning, P, Knip, M
Published in European journal of endocrinology (01.02.1998)
Published in European journal of endocrinology (01.02.1998)
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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis
Hanein, Sylvain, Perrault, Isabelle, Gerber, Sylvie, Tanguy, Gaëlle, Barbet, Fabienne, Ducroq, Dominique, Calvas, Patrick, Dollfus, Hélène, Hamel, Christian, Lopponen, Tuija, Munier, Francis, Santos, Louisa, Shalev, Stavit, Zafeiriou, Dimitrios, Dufier, Jean‐Louis, Munnich, Arnold, Rozet, Jean‐Michel, Kaplan, Josseline
Published in Human mutation (01.04.2004)
Published in Human mutation (01.04.2004)
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Dental maturation in children with shunt-treated hydrocephalus
Pirttiniemi, P, Poikela, A, Huggare, J, Löppönen, T
Published in The Cleft palate-craniofacial journal (01.11.2004)
Published in The Cleft palate-craniofacial journal (01.11.2004)
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Snoring children: factors predicting sleep apnea
Nieminen, P, Tolonen, U, Löppönen, H, Löppönen, T, Luotonen, J, Jokinen, K
Published in Acta oto-laryngologica. Supplement (1997)
Published in Acta oto-laryngologica. Supplement (1997)
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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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Journal Article
Slow prepubertal linear growth but early pubertal growth spurt in patients with shunted hydrocephalus
Löppönen, T, Saukkonen, A L, Serlo, W, Lanning, P, Knip, M
Published in Pediatrics (Evanston) (01.06.1995)
Published in Pediatrics (Evanston) (01.06.1995)
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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
Uusimaa, Johanna, Moilanen, Jukka, Vainionpää, Leena, Tapanainen, Päivi, Lindholm, Päivi, Nuutinen, Matti, Löppönen, Tuija, Mäki-Torkko, Elina, Rantala, Heikki, Majamaa, Kari
Published in Annals of neurology (2007)
Published in Annals of neurology (2007)
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Pituitary size and function in children and adolescents with shunted hydrocephalus
Löppönen, Tuija, Pääkkö, Eija, Laitinen, Juhani, Saukkonen, Anna-Liisa, Serlo, Willy, Tapanainen, Päivi, Ruokonen, Aimo, Pirttiniemi, Pertti, Poikela, Aila, Knip, Mikael
Published in Clinical endocrinology (Oxford) (01.06.1997)
Published in Clinical endocrinology (Oxford) (01.06.1997)
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Information value of magnetic resonance imaging in shunted hydrocephalus
Pääkkö, E, Löppönen, T, Saukkonen, A L, Pyhtinen, J, Laitinen, J, Serlo, W, Knip, M
Published in Archives of disease in childhood (01.06.1994)
Published in Archives of disease in childhood (01.06.1994)
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Outcome of autologous transplantation in rare myelomas
Morris, C, Drake, M, Hagman, A, Lopponen, T, Bjorkstrand, B, Gahrton, G, Apperley, J
Published in BONE MARROW TRANSPLANTATION (2003)
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Published in BONE MARROW TRANSPLANTATION (2003)
Conference Proceeding
Prediction of insulin-dependent diabetes mellitus in siblings of children with diabetes. A population-based study. The Childhood Diabetes in Finland Study Group
Kulmala, P, Savola, K, Petersen, J S, Vähäsalo, P, Karjalainen, J, Löppönen, T, Dyrberg, T, Akerblom, H K, Knip, M
Published in The Journal of clinical investigation (15.01.1998)
Published in The Journal of clinical investigation (15.01.1998)
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