Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François
Published in Prenatal diagnosis (01.08.2015)
Published in Prenatal diagnosis (01.08.2015)
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Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients
Koponen, Mikael, Havulinna, Aki S, Marjamaa, Annukka, Tuiskula, Annukka M, Salomaa, Veikko, Laitinen-Forsblom, Päivi J, Piippo, Kirsi, Toivonen, Lauri, Kontula, Kimmo, Viitasalo, Matti, Swan, Heikki
Published in BMC medical genetics (05.04.2018)
Published in BMC medical genetics (05.04.2018)
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Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
LAITINEN, Päivi J, BROWN, Kevin M, TOIVONEN, Lauri, STEPHAN, Dietrich A, KONTULA, Kimmo, PIIPPO, Kirsi, SWAN, Heikki, DEVANEY, Joe M, BRAHMBHATT, Bhoomi, DONARUM, Elizabeth A, MARINO, Michael, TISO, Natascia, VIITASALO, Matti
Published in Circulation (New York, N.Y.) (30.01.2001)
Published in Circulation (New York, N.Y.) (30.01.2001)
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Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts
Swan, Heikki, Piippo, Kirsi, Viitasalo, Matti, Heikkilä, Päivi, Paavonen, Timo, Kainulainen, Katariina, Kere, Juha, Keto, Pekka, Kontula, Kimmo, Toivonen, Lauri
Published in Journal of the American College of Cardiology (01.12.1999)
Published in Journal of the American College of Cardiology (01.12.1999)
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Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
Fodstad, Heidi, Swan, Heikki, Laitinen, Päivi, Piippo, Kirsi, Paavonen, Kristian, Viitasalo, Matti, Toivonen, Lauri, Kontula, Kimmo
Published in Annals of medicine (Helsinki) (2004)
Published in Annals of medicine (Helsinki) (2004)
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The relation of the Xbal and Pvull polymorphisms of the estrogen receptor gene and the CAG repeat polymorphism of the androgen receptor gene to peak bone mass and bone turnover rate among young healthy men
VÄLIMÄKI, Ville-Valtteri, PIIPPO, Kirsi, VÄLIMÄKI, Stiina, LÖYTTYNIEMI, Eliisa, KONTULA, Kimmo, VÄLIMÄKI, Matti J
Published in Osteoporosis international (01.12.2005)
Published in Osteoporosis international (01.12.2005)
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β1-Adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome
Paavonen, Kristian J, Swan, Heikki, Piippo, Kirsi, Laitinen, Päivi, Fodstad, Heidi, Sarna, Seppo, Toivonen, Lauri, Kontula, Kimmo, Viitasalo, Matti
Published in International journal of cardiology (01.05.2007)
Published in International journal of cardiology (01.05.2007)
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension
Hannila-Handelberg, Tuula, Kontula, Kimmo, Tikkanen, Ilkka, Tikkanen, Tuula, Fyhrquist, Frej, Helin, Karri, Fodstad, Heidi, Piippo, Kirsi, Miettinen, Helena E, Virtamo, Jarmo, Krusius, Tom, Sarna, Seppo, Gautschi, Ivan, Schild, Laurent, Hiltunen, Timo P
Published in BMC medical genetics (20.01.2005)
Published in BMC medical genetics (20.01.2005)
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Differentiation between LQT1 and LQT2 patients and unaffected subjects using 24-hour electrocardiographic recordings
Viitasalo, Matti, Oikarinen, Lasse, Väänänen, Heikki, Swan, Heikki, Piippo, Kirsi, Kontula, Kimmo, Barron, Hal V, Toivonen, Lauri, Scheinman, Melvin M
Published in The American journal of cardiology (15.03.2002)
Published in The American journal of cardiology (15.03.2002)
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Effect of the antimalarial drug halofantrine in the long QT syndrome due to a mutation of the cardiac sodium channel gene SCN5A
Piippo, Kirsi, Holmström, Sam, Swan, Heikki, Viitasalo, Matti, Raatikka, Marja, Toivonen, Lauri, Kontula, Kimmo
Published in The American journal of cardiology (01.04.2001)
Published in The American journal of cardiology (01.04.2001)
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High Efficacy of β-Blockers in Long-QT Syndrome Type 1 Contribution of Noncompliance and QT-Prolonging Drugs to the Occurrence of β-Blocker Treatment Failures
VINCENT, G. Michael, SCHWARTZ, Peter J, PRIORI, Silvia G, NAPOLITANO, Carlo, LI ZHANG, DENJOY, Isabelle, SWAN, Heikki, BITHELL, Candice, SPAZZOLINI, Carla, CROTTI, Lia, PIIPPO, Kirsi, LUPOGLAZOFF, Jean-Marc, VILLAIN, Elizabeth
Published in Circulation (New York, N.Y.) (20.01.2009)
Published in Circulation (New York, N.Y.) (20.01.2009)
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A founder mutation of the potassium channel KCNQ1 in long QT syndrome
Piippo, Kirsi, Swan, Heikki, Pasternack, Michael, Chapman, Hugh, Paavonen, Kristian, Viitasalo, Matti, Toivonen, Lauri, Kontula, Kimmo
Published in Journal of the American College of Cardiology (01.02.2001)
Published in Journal of the American College of Cardiology (01.02.2001)
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Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients
Koponen, Mikael, Havulinna, Aki S, Marjamaa, Annukka, Tuiskula, Annukka M, Salomaa, Veikko, Laitinen-Forsblom, Päivi J, Piippo, Kirsi, Toivonen, Lauri, Kontula, Kimmo, Viitasalo, Matti, Swan, Heikki
Published in BMC medical genetics (05.04.2018)
Published in BMC medical genetics (05.04.2018)
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Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects
Swan, Heikki, Viitasalo, Matti, Piippo, Kirsi, Laitinen, Päivi, Kontula, Kimmo, Toivonen, Lauri
Published in Journal of the American College of Cardiology (01.09.1999)
Published in Journal of the American College of Cardiology (01.09.1999)
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Journal Article
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies: Prevalence of recurrent pathogenic copy number in prenatal population
Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François
Published in Prenatal diagnosis (01.08.2015)
Published in Prenatal diagnosis (01.08.2015)
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Journal Article
A founder mutation of the potassium channel KCNQ1 in long QT syndrome : Implications for estimation of disease prevalence and molecular diagnostics
PIIPPO, Kirsi, SWAN, Heikki, PASTERNACK, Michael, CHAPMAN, Hugh, PAAVONEN, Kristian, VIITASALO, Matti, TOIVONEN, Lauri, KONTULA, Kimmo
Published in Journal of the American College of Cardiology (01.02.2001)
Published in Journal of the American College of Cardiology (01.02.2001)
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Journal Article
Licorice-induced hypertension and common variants of genes regulating renal sodium reabsorption
Miettinen, Helena E, Piippo, Kirsi, Hannila-Handelberg, Tuula, Paukku, Kirsi, Hiltunen, Timo P, Gautschi, Ivan, Schild, Laurent, Kontula, Kimmo
Published in Annals of medicine (Helsinki) (01.09.2010)
Published in Annals of medicine (Helsinki) (01.09.2010)
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Journal Article
Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG)
PAAVONEN, Kristian J, CHAPMAN, Hugh, LAITINEN, Päivi J, FODSTAD, Heidi, PIIPPO, Kirsi, SWAN, Heikki, TOIVONEN, Lauri, VIITASALO, Matti, KONTULA, Kimmo, PASTERNACK, Michael
Published in Cardiovascular research (01.09.2003)
Published in Cardiovascular research (01.09.2003)
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Journal Article
The relation of the XbaI and PvuII polymorphisms of the estrogen receptor gene and the CAG repeat polymorphism of the androgen receptor gene to peak bone mass and bone turnover rate among young healthy men
Välimäki, Ville-Valtteri, Piippo, Kirsi, Välimäki, Stiina, Löyttyniemi, Eliisa, Kontula, Kimmo, Välimäki, Matti J
Published in Osteoporosis international (01.12.2005)
Published in Osteoporosis international (01.12.2005)
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Journal Article