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Kimmo Kontula

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Finland

Physiology

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TOP 3
Aki S Havulinna; Antti Jula; Y Antero Kesäniemi; Johannes Kettunen; Kimmo Kontula; Clive Osmond; Leena Peltonen; Veikko Salomaa; Olavi Ukkola; Johan G Eriksson; Christopher Newton-Cheh
A blood pressure genetic risk score is a significant predictor of incident cardiovascular events in 32,669 individuals.
Ilmari Määttänen; Heikki Swan; Lauri Toivonen; Saija Alatupa; Mirka Hintsanen; Liisa Keltikangas-Järvinen; Kimmo Kontula; Taina Hintsa
Stress proneness in molecularly defined long QT syndrome: a study using temperament assessment by behavioural inhibition system scale.
Kati M Donner; Timo P Hiltunen; Olli A Jänne; Timo Sane; Kimmo Kontula
Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.

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2013: Aki S Havulinna; Antti Jula; Y Antero Kesäniemi; Johannes Kettunen; Kimmo Kontula; Clive Osmond; Leena Peltonen; Veikko Salomaa; Olavi Ukkola; Johan G Eriksson; Christopher Newton-Cheh
A blood pressure genetic risk score is a significant predictor of incident cardiovascular events in 32,669 individuals.
Hypertension 2013;61(5):987-94.
2013: Ilmari Määttänen; Heikki Swan; Lauri Toivonen; Saija Alatupa; Mirka Hintsanen; Liisa Keltikangas-Järvinen; Kimmo Kontula; Taina Hintsa
Stress proneness in molecularly defined long QT syndrome: a study using temperament assessment by behavioural inhibition system scale.
Stress and health : journal of the International Society for the Investigation of Stress 2013;29(2):150-5.
2013: Kati M Donner; Timo P Hiltunen; Olli A Jänne; Timo Sane; Kimmo Kontula
Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.
European journal of endocrinology / European Federation of Endocrine Societies 2013;168(1):K9-K18.
2012: A S Parmar; Jukka Partanen; P Saavalainen; Pertti Sistonen; Ulla Turunen; P Wacklin; Noora Alakulppi; Markus Färkkilä; Leena Halme; Katri Kaukinen; Kimmo Kontula; K Kurppa; Maija Lappalainen; Katri Lindfors; Markku Mäki; Jaana Mättö; Paulina Paavola-Sakki; E Einarsdottir
Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population.
Tissue antigens 2012;80(6):488-93.
2012: A S Parmar; Leena Peltonen; P Saavalainen; V Salomaa; Leif Törkvist; Ulla Turunen; Markus Färkkilä; Jonas Halfvarson; Leena Halme; Kimmo Kontula; Maija Lappalainen; Paulina Paavola-Sakki; A Aromaa; Mauro D'Amato; E Einarsdottir
Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients.
Genes and immunity 2012;13(6):474-80.
2012: Kirsi Paukku; Michael Backlund; Rudolf A De Boer; Nisse Kalkkinen; Kimmo Kontula; JY Lehtonen
Regulation of AT1R expression through HuR by insulin.
Nucleic acids research 2012;40(12):5250-61.
2012: Annukka Marjamaa; Christopher Newton-Cheh; Markku S Nieminen; Peter A Noseworthy; Christopher J O'Donnell; Lasse Oikarinen; Gina Peloso; Leena Peltonen; Markus Perola; Kimmo Porthan; Samuli Ripatti; Aki S Havulinna; Antti Jula; Kimmo Kontula; Lauri Toivonen; Matti Viitasalo; Veikko Salomaa
A common variant near the KCNJ2 gene is associated with T-peak to T-end interval.
Heart rhythm : the official journal of the Heart Rhythm Society 2012;9(7):1099-103.
2012: Timo P Hiltunen; Kimmo Kontula
Clinical and molecular approaches to individualize antihypertensive drug therapy.
Annals of medicine 2012;44 Suppl 1():S23-9.
2012: Anna L Lahti; Mari Pekkanen-Mattila; Olli Silvennoinen; Heikki Swan; Shinya Yamanaka; Hugh Chapman; Bruce R Conklin; Jari Hyttinen; Erja Kerkelä; Ari-Pekka Koivisto; Kimmo Kontula; Ville J Kujala; Katriina Aalto-Setälä
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture.
Disease models & mechanisms 2012;5(2):220-30.
2012: Annukka Marjamaa; Lauri Toivonen; Bianca Arrhenius; Juha-Matti Happonen; A Hiippala; Kimmo Kontula; Annukka M Lahtinen; Heikki Swan
Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia.
Journal of cardiovascular electrophysiology 2012;23(2):194-9.
2012: Kirsi Kujala; Anna Lahti; Annukka M Lahtinen; Mika Laine; Kim Larsson; Jere Paavola; Mari Pekkanen-Mattila; Olli Silvennoinen; Heikki Swan; Lauri Toivonen; Matti Viitasalo; Kimmo Kontula; Katriina Aalto-Setälä
Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed afterdepolarizations.
PloS one 2012;7(9):e44660.
2012: Annukka M Lahtinen; Christopher Newton-Cheh; Peter A Noseworthy; Markus Perola; Aki S Havulinna; Antti Jula; Pekka J Karhunen; Johannes Kettunen; Kimmo Kontula; Veikko Salomaa
Common genetic variants associated with sudden cardiac death: the FinSCDgen study.
PloS one 2012;7(7):e41675.
2011: Ilmari Määttänen; Laura Pulkki-Råback; Heikki Swan; Lauri Toivonen; Taina Hintsa; Mirka Hintsanen; Kimmo Kontula; Liisa Keltikangas-Järvinen
Cloninger's temperament traits and inherited long QT syndrome.
Journal of psychosomatic research 2011;71(4):245-9.
2011: Annukka M Lahtinen; Eero Lehtonen; Annukka Marjamaa; Lasse Oikarinen; Aarno Palotie; Leena Peltonen; Kimmo Porthan; Veikko Salomaa; Heikki Swan; Lauri Toivonen; Tiina Heliö; Antti Jula; Maija Kaartinen; Kimmo Kontula
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.
Heart rhythm : the official journal of the Heart Rhythm Society 2011;8(8):1214-21.
2011: Annukka Marjamaa; Päivi J Laitinen-Forsblom; Anetta Wronska; Lauri Toivonen; Kimmo Kontula; Heikki Swan
Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro.
International journal of cardiology 2011;147(2):246-52.
2011: Annukka M Lahtinen; Annukka Marjamaa; Heikki Swan; Kimmo Kontula
KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?
BMC medical genetics 2011;12():11.
2010: Helena E Miettinen; Kirsi Piippo; Tuula Hannila-Handelberg; Kirsi Paukku; Timo P Hiltunen; Ivan Gautschi; Laurent Schild; Kimmo Kontula
Licorice-induced hypertension and common variants of genes regulating renal sodium reabsorption.
Annals of medicine 2010;42(6):465-74.
2010: Taina Hintsa; Sampsa Puttonen; Lauri Toivonen; Kimmo Kontula; Heikki Swan; Liisa Keltikangas-Järvinen
A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.
Heart (British Cardiac Society) 2010;96(16):1281-6.
2010: Kimmo Porthan; Annukka Marjamaa; Matti Viitasalo; Heikki Väänänen; Antti Jula; Lauri Toivonen; Markku S Nieminen; Christopher Newton-Cheh; Veikko Salomaa; Kimmo Kontula; Lasse Oikarinen
Relationship of common candidate gene variants to electrocardiographic T-wave peak to T-wave end interval and T-wave morphology parameters.
Heart rhythm : the official journal of the Heart Rhythm Society 2010;7(7):898-903.
2010: Timo Suonsyrjä; Kati Donner; Tuula Hannila-Handelberg; Heidi Fodstad; Kimmo Kontula; Timo P Hiltunen
Common genetic variation of beta1- and beta2-adrenergic receptor and response to four classes of antihypertensive treatment.
Pharmacogenetics and genomics 2010;20(5):342-5.
2010: Tuula Hannila-Handelberg; Kimmo Kontula; Kirsi Paukku; JY Lehtonen; Jarmo Virtamo; Ilkka Tikkanen; Timo P Hiltunen
Common genetic variations of the renin-angiotensin-aldosterone system and response to acute angiotensin I-converting enzyme inhibition in essential hypertension.
Journal of hypertension 2010;28(4):771-9.
2010: Børge G Nordestgaard; Kimmo Kontula; Marianne Benn; Björn Dahlöf; Ulf de Faire; Jonathan M Edelman; Erik Eliasson; Frej Fyhrquist; Darcy A Hille; Hans Ibsen; Paulette A Lyle; Kåre Berg; Mia Sandberg; Amar A Sethi; Peggy H Wong; Ingrid Os
Effect of ACE insertion/deletion and 12 other polymorphisms on clinical outcomes and response to treatment in the LIFE study.
Pharmacogenetics and genomics 2010;20(2):77-85.
2009: Kati M Donner; Timo P Hiltunen; Timo Suonsyrjä; Tuula Hannila-Handelberg; Ilkka Tikkanen; Miia Antikainen; Ari Hirvonen; Kimmo Kontula
CYP2C9 genotype modifies activity of the renin-angiotensin-aldosterone system in hypertensive men.
Journal of hypertension 2009;27(10):2001-9.
2009: Marco Zucchelli; Leif Torkvist; Francesca Bresso; Jonas Halfvarson; Anna Hellquist; Francesca Anedda; Ghazaleh Assadi; Gunnar B Lindgren; Monika Svanfeldt; Martin Janson; Colin L Noble; Sven Pettersson; Maija Lappalainen; Paulina Paavola-Sakki; Leena Halme; Martti Färkkilä; Ulla Turunen; Jack Satsangi; Kimmo Kontula; Robert Löfberg; Juha Kere; Mauro D'Amato
PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease.
Inflammatory bowel diseases 2009;15(10):1562-9.
2009: A Marjamaa; Christopher Newton-Cheh; K Porthan; Antti Reunanen; Päivi Lahermo; Heikki Väänänen; Antti Jula; H Karanko; H Swan; Lauri Toivonen; Markku S Nieminen; Matti Viitasalo; Leena Peltonen; L Oikarinen; Aarno Palotie; Kimmo Kontula; Veikko Salomaa
Common candidate gene variants are associated with QT interval duration in the general population.
Journal of internal medicine 2009;265(4):448-58.
2009: Timo Suonsyrjä; Tuula Hannila-Handelberg; Heidi Fodstad; Kati Donner; Kimmo Kontula; Timo P Hiltunen
Renin-angiotensin system and alpha-adducin gene polymorphisms and their relation to responses to antihypertensive drugs: results from the GENRES study.
American journal of hypertension 2009;22(2):169-75.
2009: Taina Hintsa; Liisa Keltikangas-Järvinen; Sampsa Puttonen; Niklas Ravaja; Lauri Toivonen; Kimmo Kontula; Heikki Swan
Depressive symptoms in the congenital long QT syndrome.
Annals of medicine 2009;41(7):516-21.
2009: Annukka Marjamaa; Päivi J Laitinen-Forsblom; Annukka M Lahtinen; Matti Viitasalo; Lauri Toivonen; Kimmo Kontula; Heikki Swan
Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.
BMC medical genetics 2009;10():12.
2009: Elisabet Einarsdottir; Lotta L E Koskinen; Emma Dukes; Kati Kainu; Sari Suomela; Maija Lappalainen; Fabiana Ziberna; Ilma R Korponay-Szabo; Kalle Kurppa; Katri Kaukinen; Róza Adány; Zsuzsa Pocsai; György Széles; Martti Färkkilä; Ulla Turunen; Leena Halme; Paulina Paavola-Sakki; Tarcisio Not; Serena Vatta; Alessandro Ventura; Robert Löfberg; Leif Torkvist; Francesca Bresso; Jonas Halfvarson; Markku Mäki; Kimmo Kontula; Ulpu Saarialho-Kere; Juha Kere; Mauro D'Amato; Päivi Saavalainen
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.
BMC medical genetics 2009;10():8.
2009: Annukka Marjamaa; Veikko Salomaa; Christopher Newton-Cheh; Kimmo Porthan; Antti Reunanen; Hannu Karanko; Antti Jula; Päivi Lahermo; Heikki Väänänen; Lauri Toivonen; Heikki Swan; Matti Viitasalo; Markku S Nieminen; Leena Peltonen; Lasse Oikarinen; Aarno Palotie; Kimmo Kontula
High prevalence of four long QT syndrome founder mutations in the Finnish population.
Annals of medicine 2009;41(3):234-40.
2009: Kimmo Porthan; Matti Viitasalo; Timo P Hiltunen; Heikki Väänänen; Juhani Dabek; Timo Suonsyrja; Tuula Hannila-Handelberg; Juha Virolainen; Markku S Nieminen; Lauri Toivonen; Kimmo Kontula; Lasse Oikarinen
Short-term electrophysiological effects of losartan, bisoprolol, amlodipine, and hydrochlorothiazide in hypertensive men.
Annals of medicine 2009;41(1):29-37.
2008: Matti Viitasalo; Lasse Oikarinen; Heikki Väänänen; Kimmo Kontula; Lauri Toivonen; Heikki Swan
U-waves and T-wave peak to T-wave end intervals in patients with catecholaminergic polymorphic ventricular tachycardia, effects of beta-blockers.
Heart rhythm : the official journal of the Heart Rhythm Society 2008;5(10):1382-8.
2008: Kaisa Valli-Jaakola; Elina Suviolahti; Camilla Schalin-Jäntti; Samuli Ripatti; Kaisa Silander; Laura Oksanen; Veikko Salomaa; Leena Peltonen; Kimmo Kontula
Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns.
Obesity (Silver Spring, Md.) 2008;16(9):2113-9.
2008: Maija Lappalainen; Leena Halme; Ulla Turunen; Päivi Saavalainen; Elisabet Einarsdottir; Markus Färkkilä; Kimmo Kontula; Paulina Paavola-Sakki
Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population.
Inflammatory bowel diseases 2008;14(8):1118-24.
2008: Timo Suonsyrjä; Tuula Hannila-Handelberg; Kristian J Paavonen; Helena E Miettinen; Kati Donner; Timo Strandberg; Ilkka Tikkanen; Reijo S Tilvis; Pertti J Pentikäinen; Kimmo Kontula; Timo P Hiltunen
Laboratory tests as predictors of the antihypertensive effects of amlodipine, bisoprolol, hydrochlorothiazide and losartan in men: results from the randomized, double-blind, crossover GENRES Study.
Journal of hypertension 2008;26(6):1250-6.
2008: Annukka M Lahtinen; Annukka Lehtonen; Maija Kaartinen; Lauri Toivonen; Heikki Swan; Elisabeth Widén; Eero Lehtonen; Veli-Pekka Lehto; Kimmo Kontula
Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.
International journal of cardiology 2008;126(1):92-100.
2008: Maija Lappalainen; Paulina Paavola-Sakki; Leena Halme; Ulla Turunen; Markus Färkkilä; Heikki Repo; Kimmo Kontula
Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo.
Inflammatory bowel diseases 2008;14(2):176-85.
2007: Mauro D'Amato; Sara Bruce; Francesca Bresso; Marco Zucchelli; Sini Ezer; Ville Pulkkinen; Cecilia Lindgren; Marco Astegiano; Mario Rizzetto; Paolo Gionchetti; Gabriele Riegler; Raffaello Sostegni; Marco Daperno; Sandra D'Alfonso; Patricia Momigliano-Richiardi; Leif Torkvist; Pauli Puolakkainen; Maija Lappalainen; Paulina Paavola-Sakki; Leena Halme; Martti Farkkila; Ulla Turunen; Kimmo Kontula; Robert Lofberg; Sven Pettersson; Juha Kere
Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease.
Gastroenterology 2007;133(3):808-17.
2007: Kimmo Porthan; Juha Virolainen; Timo P Hiltunen; Matti Viitasalo; Heikki Väänänen; Juhani Dabek; Tuula Hannila-Handelberg; Lauri Toivonen; Markku S Nieminen; Kimmo Kontula; Lasse Oikarinen
Relationship of electrocardiographic repolarization measures to echocardiographic left ventricular mass in men with hypertension.
Journal of hypertension 2007;25(9):1951-7.
2007: Kristian J Paavonen; Heikki Swan; Kirsi Piippo; Päivi J Laitinen; Heidi Fodstad; Seppo Sarna; Lauri Toivonen; Kimmo Kontula; Matti Viitasalo
Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.
International journal of cardiology 2007;118(2):197-202.
2007: Annukka Lehtonen; Heidi Fodstad; Päivi J Laitinen-Forsblom; Lauri Toivonen; Kimmo Kontula; Heikki Swan
Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes.
Heart rhythm : the official journal of the Heart Rhythm Society 2007;4(5):603-7.
2007: Jere Paavola; Matti Viitasalo; Päivi J Laitinen-Forsblom; Michael Pasternack; Heikki Swan; Ilkka Tikkanen; Lauri Toivonen; Kimmo Kontula; Mika Laine
Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves.
European heart journal 2007;28(9):1135-42.
2007: Timo P Hiltunen; Timo Suonsyrjä; Tuula Hannila-Handelberg; Kristian J Paavonen; Helena E Miettinen; Timo Strandberg; Ilkka Tikkanen; Reijo S Tilvis; Pertti J Pentikäinen; Juha Virolainen; Kimmo Kontula
Predictors of antihypertensive drug responses: initial data from a placebo-controlled, randomized, cross-over study with four antihypertensive drugs (The GENRES Study).
American journal of hypertension 2007;20(3):311-8.
2007: Maija Kaartinen; Tiina Heliö; Annukka Lehtonen; Annukka M Lahtinen; Satu Kärkkäinen; Pekka Keto; Kimmo Kontula; Lauri Toivonen
Characterization of familial and sporadic arrhythmogenic right ventricular cardiomyopathy in Finland.
Annals of medicine 2007;39(4):312-8.
2007: Kimmo Kontula
[Not Available].
Duodecim; lääketieteellinen aikakauskirja 2007;123(1):5-6.
2006: Md Shaheenul Islam; Terho Lehtimäki; Markus Juonala; Mika Kähönen; Nina Hutri-Kähönen; Katariina Kainulainen; Helena Miettinen; Leena Taittonen; Kimmo Kontula; Jorma S A Viikari; Olli T Raitakari
Polymorphism of the angiotensin-converting enzyme (ACE) and angiotesinogen (AGT) genes and their associations with blood pressure and carotid artery intima media thickness among healthy Finnish young adults--the Cardiovascular Risk in Young Finns Study.
Atherosclerosis 2006;188(2):316-22.
2006: Leena Halme; Paulina Paavola-Sakki; Ulla Turunen; Maija Lappalainen; Martti Farkkila; Kimmo Kontula
Family and twin studies in inflammatory bowel disease.
World journal of gastroenterology : WJG 2006;12(23):3668-72.
2006: Päivi J Laitinen-Forsblom; Pekka Mäkynen; Heikki Mäkynen; Sinikka Yli-Mäyry; Vesa Virtanen; Kimmo Kontula; Katriina Aalto-Setälä
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.
Journal of cardiovascular electrophysiology 2006;17(5):480-5.
2006: Maija Lappalainen; Paulina Paavola-Sakki; Leena Halme; Ulla Turunen; Tiina Heliö; Markus Färkkilä; Kimmo Kontula
Screening of tumor necrosis factor receptor-associated factor 6 as a candidate gene for inflammatory bowel disease.
Scandinavian journal of gastroenterology 2006;41(4):424-9.
2006: Elina Suviolahti; Karen Reue; Rita M Cantor; Jack Phan; Massimiliano Gentile; Jussi Naukkarinen; Aino Soro-Paavonen; Laura J Oksanen; Jaakko Kaprio; Aila Rissanen; Veikko Salomaa; Kimmo Kontula; Marja-Riitta Taskinen; Päivi Pajukanta; Leena Peltonen
Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism.
Human molecular genetics 2006;15(3):377-86.
2006: Matti Viitasalo; Lasse Oikarinen; Heikki Swan; Kathryn A Glatter; Heikki Väänänen; Heidi Fodstad; Nipavan Chiamvimonvat; Kimmo Kontula; Lauri Toivonen; Melvin M Scheinman
Ratio of late to early T-wave peak amplitude in 24-h electrocardiographic recordings as indicator of symptom history in patients with long-QT Syndrome types 1 and 2.
Journal of the American College of Cardiology 2006;47(1):112-20.
2006: Seppo Pakkala; Kimmo Kontula
[Not Available].
Duodecim; lääketieteellinen aikakauskirja 2006;122(14):1781-5.
2006: Heidi Fodstad; Saïd Bendahhou; Jean-Sébastien Rougier; Päivi J Laitinen-Forsblom; Jacques Barhanin; Hugues Abriel; Laurent Schild; Kimmo Kontula; Heikki Swan
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.
Annals of medicine 2006;38(4):294-304.
2006: Kaisa Valli-Jaakola; Jorma J Palvimo; Marita Lipsanen-Nyman; Veikko Salomaa; Leena Peltonen; Kimmo Kontula; Camilla Schalin-Jäntti
A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity.
Hormone research 2006;66(2):61-9.
2006: Kimmo Kontula
[Finnish Medical Society Duodecim-125 years promoting health of Finns].
Duodecim; lääketieteellinen aikakauskirja 2006;122(1):4-6.
2005: Ville-Valtteri Välimäki; Kirsi Piippo; Stiina Välimäki; Eliisa Löyttyniemi; Kimmo Kontula; Matti J Välimäki
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.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2005;16(12):1633-40.
2005: Kimmo Kontula; Päivi J Laitinen; Annukka Lehtonen; Lauri Toivonen; Matti Viitasalo; Heikki Swan
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Cardiovascular research 2005;67(3):379-87.
2005: Md Shaheenul Islam; Olli T Raitakari; Markus Juonala; Mika Kähönen; Nina Hutri-Kähönen; Auni Collings; Katriina Aalto-Setälä; Kimmo Kontula; Jukka Marniemi; Jorma S A Viikari; Terho Lehtimäki
Apolipoprotein A-I/C-III/A-IV SstI and apolipoprotein B XbaI polymorphisms and their association with carotid artery intima-media thickness in the Finnish population. The Cardiovascular Risk in Young Finns Study.
Atherosclerosis 2005;180(1):79-86.
2005: Matti Viitasalo; Kristian J Paavonen; Heikki Swan; Kimmo Kontula; Lauri Toivonen
Effects of epinephrine on right ventricular monophasic action potentials in the LQT1 versus LQT2 form of long QT syndrome: preferential enhancement of "triangulation" in LQT1.
Pacing and clinical electrophysiology : PACE 2005;28(3):219-27.
2005: Heikki Swan; Päivi J Laitinen; Kimmo Kontula; Lauri Toivonen
Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations.
Journal of cardiovascular electrophysiology 2005;16(2):162-6.
2005: Tuula Hannila-Handelberg; Kimmo Kontula; Ilkka Tikkanen; Tuula Tikkanen; Frej Fyhrquist; Karri Helin; Heidi Fodstad; Kirsi Piippo; Helena E Miettinen; Jarmo Virtamo; Tom Krusius; Seppo Sarna; Ivan Gautschi; Laurent Schild; Timo P Hiltunen
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.
BMC medical genetics 2005;6():4.
2005: Kimmo Kontula
[Finnish type mutations leading to heart disorders].
Duodecim; lääketieteellinen aikakauskirja 2005;121(24):2665-79.
2005: Camilla Schalin-Jantti; Tiina Laine; Kaisa Valli-Jaakola; Tuula Lonnqvist; Kimmo Kontula; Matti J Valimaki
Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis.
Hormone research 2005;63(3):139-44.
2005: Nabil Sabri Enattah; Raimo Sulkava; Pirjo Halonen; Kimmo Kontula; Irma Järvelä
Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age.
Journal of the American Geriatrics Society 2005;53(1):79-82.
2004: Leena Halme; Ulla Turunen; Paulina Paavola-Sakki; Tiina Heliö; Maija Lappalainen; Markus Färkkilä; Kimmo Kontula; Heikki Repo
CARD15 frameshift mutation in patients with CROHN disease is associated with immune dysregulation.
Scandinavian journal of gastroenterology 2004;39(12):1243-9.
2004: Kenneth C Bilchick; Matti Viitasalo; Lasse Oikarinen; Barry Fetics; Gordon F Tomaselli; Heikki Swan; Päivi J Laitinen; Heikki Väänänen; Kimmo Kontula; Ronald D Berger
Temporal repolarization lability differences among genotyped patients with the long QT syndrome.
The American journal of cardiology 2004;94(10):1312-6.
2004: Heidi Fodstad; Heikki Swan; Muriel Auberson; Ivan Gautschi; Johannes Loffing; Laurent Schild; Kimmo Kontula
Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.
Journal of molecular and cellular cardiology 2004;37(2):593-602.
2004: Stephan Lehnart; Xander H T Wehrens; Päivi J Laitinen; Steven Reiken; Shi-Xian Deng; Zhenzhuang Cheng; Donald W Landry; Kimmo Kontula; Heikki Swan; Andrew R Marks
Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak.
Circulation 2004;109(25):3208-14.
2004: Kaisa Valli-Jaakola; Marita Lipsanen-Nyman; Laura J Oksanen; Anthony N Hollenberg; Kimmo Kontula; Christian Bjørbaek; Camilla Schalin-Jäntti
Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.
The Journal of clinical endocrinology and metabolism 2004;89(2):940-5.
2004: Päivi J Laitinen; Heikki Swan; Kirsi Piippo; Matti Viitasalo; Lauri Toivonen; Kimmo Kontula
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.
Annals of medicine 2004;36 Suppl 1():81-6.
2004: Heidi Fodstad; Heikki Swan; Päivi J Laitinen; Kirsi Piippo; Kristian J Paavonen; Matti Viitasalo; Lauri Toivonen; Kimmo Kontula
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.
Annals of medicine 2004;36 Suppl 1():53-63.
2003: Elina Suviolahti; Laura J Oksanen; Miina Ohman; Rita M Cantor; Martin Ridderstrale; Tiinamaija Tuomi; Jaakko Kaprio; Aila Rissanen; Pertti Mustajoki; Pekka Jousilahti; Erkki Vartiainen; Kaisa Silander; Riika Kilpikari; Veikko Salomaa; Leif Groop; Kimmo Kontula; Leena Peltonen; Päivi Pajukanta
The SLC6A14 gene shows evidence of association with obesity.
The Journal of clinical investigation 2003;112(11):1762-72.
2003: Päivi J Laitinen; Heikki Swan; Kimmo Kontula
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
European journal of human genetics : EJHG 2003;11(11):888-91.
2003: Kristian J Paavonen; Hugh Chapman; Päivi J Laitinen; Heidi Fodstad; Kirsi Piippo; Heikki Swan; Lauri Toivonen; Matti Viitasalo; Kimmo Kontula; Michael Pasternack
Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).
Cardiovascular research 2003;59(3):603-11.
2003: Philippe Lunetta; Antti Levo; Päivi J Laitinen; Heidi Fodstad; Kimmo Kontula; Antti Sajantila
Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.
International journal of legal medicine 2003;117(2):115-7.
2003: Tiina Heliö; Leena Halme; Maija Lappalainen; Heidi Fodstad; Paulina Paavola-Sakki; Ulla Turunen; Markus Färkkilä; Tom Krusius; Kimmo Kontula
CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn's disease.
Gut 2003;52(4):558-62.
2003: Paulina Paavola-Sakki; Vesa Ollikainen; Tiina Heliö; Leena Halme; Ulla Turunen; Päivi Lahermo; Maija Lappalainen; Markus Färkkilä; Kimmo Kontula
Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci.
European journal of human genetics : EJHG 2003;11(2):112-20.
2003: Lyly Teppo; Per-Henrik Groop; Ilkka Kaitila; Kimmo Kontula; Veli-Pekka Lehto; Aki Rovasalo; Olavi Ylikorkala
[Have you been feeling good?].
Duodecim; lääketieteellinen aikakauskirja 2003;119(23):2237-8.
2003: Camilla Schalin-Jäntti; Kaisa Valli-Jaakola; Laura J Oksanen; Eeva Martelin; K Laitinen; Tom Krusius; Pertti Mustajoki; Markku Heikinheimo; Kimmo Kontula
Melanocortin-3-receptor gene variants in morbid obesity.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 2003;27(1):70-4.
2002: Timo P Hiltunen; Tuula Hannila-Handelberg; Noora Petäjäniemi; Ilkka Kantola; Ilkka Tikkanen; Jarmo Virtamo; Ivan Gautschi; Laurent Schild; Kimmo Kontula
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.
Journal of hypertension 2002;20(12):2383-90.
2002: Matti Viitasalo; Lasse Oikarinen; Heikki Swan; Heikki Väänänen; Kathryn A Glatter; Päivi J Laitinen; Kimmo Kontula; Hal V Barron; Lauri Toivonen; Melvin M Scheinman
Ambulatory electrocardiographic evidence of transmural dispersion of repolarization in patients with long-QT syndrome type 1 and 2.
Circulation 2002;106(19):2473-8.
2002: Eeva Pietilä; Heidi Fodstad; Elmo Niskasaari; Päivi J Laitinen P; Heikki Swan; Markku Savolainen; Y Antero Kesäniemi; Kimmo Kontula; Heikki V Huikuri
Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women.
Journal of the American College of Cardiology 2002;40(3):511-4.
2002: Leena Halme; Ulla Turunen; Tiina Heliö; P Paavola; T Walle; Ari Miettinen; H Järvinen; Kimmo Kontula; Markus Färkkilä
Familial and sporadic inflammatory bowel disease: comparison of clinical features and serological markers in a genetically homogeneous population.
Scandinavian journal of gastroenterology 2002;37(6):692-8.
2002: Liisa Myllykangas; Tuomo Polvikoski; Karoliina Reunanen; Fabienne Wavrant De-Vrieze; Clare Ellis; Dena Hernandez; Raimo Sulkava; Kimmo Kontula; Auli Verkkoniemi; Irma-Leena Notkola; John Hardy; Jordi Perez-Tur; Matti Haltia; Pentti J Tienari
ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain.
American journal of medical genetics 2002;114(3):288-91.
2002: Matti Viitasalo; Lasse Oikarinen; Heikki Väänänen; Heikki Swan; Kirsi Piippo; Kimmo Kontula; Hal V Barron; Lauri Toivonen; Melvin M Scheinman
Differentiation between LQT1 and LQT2 patients and unaffected subjects using 24-hour electrocardiographic recordings.
The American journal of cardiology 2002;89(6):679-85.
2002: Andrew R Marks; silvia priori; Mirella Memmi; Kimmo Kontula; Päivi J Laitinen
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia.
Journal of cellular physiology 2002;190(1):1-6.
2001: A Salo; Raija Ylikoski; Auli Verkkoniemi; Tuomo Polvikoski; Kati Juva; Sari Rastas; Kimmo Kontula; K Kainulainen; Leena Niinistö; Irma-Leena Notkola; Raimo Sulkava
Does apolipoprotein E influence learning and memory in the nondemented oldest old?
International psychogeriatrics / IPA 2001;13(4):451-9.
2001: Liisa Myllykangas; Tuomo Polvikoski; Raimo Sulkava; Irma-Leena Notkola; Sari Rastas; Auli Verkkoniemi; Pentti J Tienari; Leena Niinistö; John Hardy; Jordi Pérez-Tur; Kimmo Kontula; Matti Haltia
Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: a population-based neuropathological study.
Annals of medicine 2001;33(7):486-92.
2001: Alpo F Vuorio; Katriina Aalto-Setälä; UM Koivisto; Hannu Turtola; H Nissen; Petri T Kovanen; Tatu A Miettinen; Helena Gylling; Hanna Oksanen; Kimmo Kontula
Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.
Annals of medicine 2001;33(6):410-21.
2001: Leena Halme; Tiina Heliö; J Mäkinen; Krister Höckerstedt; Markus Färkkilä; Kirsi Piippo; Tom Krusius; Kimmo Kontula
HFE haemochromatosis gene mutations in liver transplant patients.
Scandinavian journal of gastroenterology 2001;36(8):881-5.
2001: Kristian J Paavonen; Heikki Swan; Kirsi Piippo; Laura Hokkanen; Päivi J Laitinen; Matti Viitasalo; Lauri Toivonen; Kimmo Kontula
Response of the QT interval to mental and physical stress in types LQT1 and LQT2 of the long QT syndrome.
Heart (British Cardiac Society) 2001;86(1):39-44.
2001: Tuomo Polvikoski; Raimo Sulkava; Liisa Myllykangas; Irma-Leena Notkola; Leena Niinistö; Auli Verkkoniemi; K Kainulainen; Kimmo Kontula; Jordi Pérez-Tur; John Hardy; Matti Haltia
Prevalence of Alzheimer's disease in very elderly people: a prospective neuropathological study.
Neurology 2001;56(12):1690-6.
2001: P Paavola; Tiina Heliö; M Kiuru; Leena Halme; Ulla Turunen; Joseph D Terwilliger; A L Karvonen; R Julkunen; Seppo E Niemelä; Heimo Nurmi; Markus Färkkilä; Kimmo Kontula
Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21.
European journal of human genetics : EJHG 2001;9(5):328-34.
2001: Kirsi Piippo; S Holmström; Heikki Swan; Matti Viitasalo; M Raatikka; Lauri Toivonen; Kimmo Kontula
Effect of the antimalarial drug halofantrine in the long QT syndrome due to a mutation of the cardiac sodium channel gene SCN5A.
The American journal of cardiology 2001;87(7):909-11.
2001: Kirsi Piippo; Heikki Swan; Michael Pasternack; Hugh Chapman; Kristian J Paavonen; Matti Viitasalo; Lauri Toivonen; Kimmo Kontula
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.
Journal of the American College of Cardiology 2001;37(2):562-8.
2001: Päivi J Laitinen; Kevin Brown; Kirsi Piippo; Heikki Swan; Joseph M Devaney; B Brahmbhatt; Elizabeth A Donarum; M Marino; Natascia Tiso; Matti Viitasalo; Lauri Toivonen; Dietrich A Stephan; Kimmo Kontula
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
Circulation 2001;103(4):485-90.
2000: Markus Perola; K Kainulainen; Päivi Pajukanta; Joseph D Terwilliger; Tero Hiekkalinna; Pekka Ellonen; Jaakko Kaprio; Markku Koskenvuo; Kimmo Kontula; Leena Peltonen
Genome-wide scan of predisposing loci for increased diastolic blood pressure in Finnish siblings.
Journal of hypertension 2000;18(11):1579-85.
2000: Liisa Myllykangas; Tuomo Polvikoski; Raimo Sulkava; Auli Verkkoniemi; Pentti J Tienari; Leena Niinistö; Kimmo Kontula; John Hardy; Matti Haltia; Jordi Pérez-Tur
Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over.
Neuroscience letters 2000;292(3):195-8.
2000: Laura J Oksanen; Aila Tiitinen; Jaakko Kaprio; Hannu Koistinen; Sirkka-Liisa Karonen; Kimmo Kontula
No evidence for mutations of the leptin or leptin receptor genes in women with polycystic ovary syndrome.
Molecular human reproduction 2000;6(10):873-6.
2000: Kati Juva; Auli Verkkoniemi; Petteri Viramo; Tuomo Polvikoski; K Kainulainen; Kimmo Kontula; Raimo Sulkava
Apolipoprotein E, cognitive function, and dementia in a general population aged 85 years and over.
International psychogeriatrics / IPA 2000;12(3):379-87.
2000: Miina Ohman; Laura J Oksanen; Jaakko Kaprio; Markku Koskenvuo; Pertti Mustajoki; Aila Rissanen; J Salmi; Kimmo Kontula; Leena Peltonen
Genome-wide scan of obesity in Finnish sibpairs reveals linkage to chromosome Xq24.
The Journal of clinical endocrinology and metabolism 2000;85(9):3183-90.
2000: Hannele Laivuori; Risto Kaaja; Olavi Ylikorkala; Timo P Hiltunen; Kimmo Kontula
677 C-->T polymorphism of the methylenetetrahydrofolate reductase gene and preeclampsia.
Obstetrics and gynecology 2000;96(2):277-80.
2000: Jukka T Salonen; Tomi-Pekka Tuomainen; Kimmo Kontula
Role of C282Y mutation in haemochromatosis gene in development of type 2 diabetes in healthy men: prospective cohort study.
BMJ (Clinical research ed.) 2000;320(7251):1706-7.
2000: Päivi J Laitinen; Heidi Fodstad; Kirsi Piippo; Heikki Swan; Lauri Toivonen; Matti Viitasalo; Jaakko Kaprio; Kimmo Kontula
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.
Human mutation 2000;15(6):580-1.
2000: Kirsi Piippo; Päivi J Laitinen; Heikki Swan; Lauri Toivonen; Matti Viitasalo; Michael Pasternack; Kristian J Paavonen; Hugh Chapman; Kenneth T Wann; E Hirvelä; Antti Sajantila; Kimmo Kontula
Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns.
Journal of the American College of Cardiology 2000;35(7):1919-25.
2000: Alpo F Vuorio; Helena Gylling; Hannu Turtola; Kimmo Kontula; P Ketonen; Tatu A Miettinen
Stanol ester margarine alone and with simvastatin lowers serum cholesterol in families with familial hypercholesterolemia caused by the FH-North Karelia mutation.
Arteriosclerosis, thrombosis, and vascular biology 2000;20(2):500-6.
2000: Kati Juva; Auli Verkkoniemi; Petteri Viramo; Tuomo Polvikoski; K Kainulainen; Kimmo Kontula; Raimo Sulkava
APOE epsilon4 does not predict mortality, cognitive decline, or dementia in the oldest old.
Neurology 2000;54(2):412-5.
2000: Tiina Heliö; P Paavola; Leena Halme; Ulla Turunen; Markus Färkkilä; Kimmo Kontula
[What is known about genetic factors behind chronic inflammatory bowel diseases?].
Duodecim; lääketieteellinen aikakauskirja 2000;116(7):713-8.
2000: Kimmo Kontula; Markus Perola; T Hiltunen; K Kainulainen; L Palotie
[Genes and hypertension].
Duodecim; lääketieteellinen aikakauskirja 2000;116(16):1751-8.
2000: Heikki Swan; Matti Viitasalo; Lauri Toivonen; Kirsi Piippo; Kimmo Kontula
[Hereditary polymorphic ventricular tachycardia as a cause of syncopes and sudden cardiac deaths].
Duodecim; lääketieteellinen aikakauskirja 2000;116(6):589-94.
1999: Alpo F Vuorio; Kimmo Kontula; Hannu Turtola; Antti Sajantila
Post mortem molecularly defined familial hypercholesterolemia and sudden cardiac death of young men.
Forensic science international 1999;106(2):87-92.
1999: Alpo F Vuorio; L Paulin; J Saltevo; Kimmo Kontula
Single-nucleotide polymorphisms may cause erroneous results in primer-introduced restriction enzyme analyses: a case of molecular misdiagnosis of homozygous vs heterozygous familial hypercholesterolemia.
Molecular and cellular probes 1999;13(6):421-4.
1999: Heikki Swan; Kirsi Piippo; Matti Viitasalo; P Heikkilä; T Paavonen; K Kainulainen; J Kere; P Keto; Kimmo Kontula; Lauri Toivonen
Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.
Journal of the American College of Cardiology 1999;34(7):2035-42.
1999: Tomi-Pekka Tuomainen; Kimmo Kontula; Kristiina Nyyssönen; Timo A Lakka; Tiina Heliö; Jukka T Salonen
Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland.
Circulation 1999;100(12):1274-9.
1999: Leena Taittonen; Matti Uhari; Kimmo Kontula; K Kainulainen; H Miettinen; Juha Turtinen; Matti Nuutinen
Angiotensin converting enzyme gene insertion/deletion polymorphism, angiotensinogen gene polymorphisms, family history of hypertension, and childhood blood pressure.
American journal of hypertension 1999;12(9 Pt 1):858-66.
1999: Heikki Swan; Matti Viitasalo; Kirsi Piippo; Päivi J Laitinen; Kimmo Kontula; Lauri Toivonen
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
Journal of the American College of Cardiology 1999;34(3):823-9.
1999: Liisa Myllykangas; Tuomo Polvikoski; Raimo Sulkava; Auli Verkkoniemi; Richard Crook; Pentti J Tienari; A K Pusa; Leena Niinistö; P O'Brien; Kimmo Kontula; John Hardy; Matti Haltia; Jordi Pérez-Tur
Genetic association of alpha2-macroglobulin with Alzheimer's disease in a Finnish elderly population.
Annals of neurology 1999;46(3):382-90.
1999: Jouko Karjalainen; Urho M Kujala; A Stolt; M Mäntysaari; Matti Viitasalo; K Kainulainen; Kimmo Kontula
Angiotensinogen gene M235T polymorphism predicts left ventricular hypertrophy in endurance athletes.
Journal of the American College of Cardiology 1999;34(2):494-9.
1999: Kimmo Kontula; Alpo F Vuorio; H Turtola; P Saikku
Association of seropositivity for Chlamydia pneumoniae and coronary artery disease in heterozygous familial hypercholesterolaemia.
Lancet 1999;354(9172):46-7.
1999: K Kainulainen; Markus Perola; Joseph D Terwilliger; Jaakko Kaprio; Markku Koskenvuo; Ann-Christine Syvänen; E Vartiainen; Leena Peltonen; Kimmo Kontula
Evidence for involvement of the type 1 angiotensin II receptor locus in essential hypertension.
Hypertension 1999;33(3):844-9.
1999: Miina Ohman; Laura J Oksanen; K Kainulainen; O A Jänne; Jaakko Kaprio; Markku Koskenvuo; Pertti Mustajoki; Kimmo Kontula; Leena Peltonen
Testing of human homologues of murine obesity genes as candidate regions in Finnish obese sib pairs.
European journal of human genetics : EJHG 1999;7(2):117-24.
1999: Tiina Heliö; Ulla Wartiovaara; Leena Halme; Ulla Turunen; H Mikkola; Aarno Palotie; Markus Färkkilä; Kimmo Kontula
Arg506Gln factor V mutation and Val34Leu factor XIII polymorphism in Finnish patients with inflammatory bowel disease.
Scandinavian journal of gastroenterology 1999;34(2):170-4.
1998: Laura J Oksanen; J J Palvimo; O A Jänne; Kimmo Kontula
Functional analysis of the C(-188)A polymorphism of the human leptin promoter.
Human genetics 1998;103(4):527-8.
1998: Heikki Swan; Kristiina M Saarinen; Kimmo Kontula; Lauri Toivonen; Matti Viitasalo
Evaluation of QT interval duration and dispersion and proposed clinical criteria in diagnosis of long QT syndrome in patients with a genetically uniform type of LQT1.
Journal of the American College of Cardiology 1998;32(2):486-91.
1998: Laura J Oksanen; Jaakko Kaprio; Pertti Mustajoki; Kimmo Kontula
A common pentanucleotide polymorphism of the 3'-untranslated part of the leptin receptor gene generates a putative stem-loop motif in the mRNA and is associated with serum insulin levels in obese individuals.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 1998;22(7):634-40.
1998: Katriina Aalto-Setälä; Heikki Palomäki; H Miettinen; Alpo F Vuorio; Tuomo Kuusi; Raili Raininko; O Salonen; Markku Kaste; Kimmo Kontula
Genetic risk factors and ischaemic cerebrovascular disease: role of common variation of the genes encoding apolipoproteins and angiotensin-converting enzyme.
Annals of medicine 1998;30(2):224-33.
1998: Helena E Miettinen; Helena Gylling; Jukka Tenhunen; Jarmo Virtamo; Matti Jauhiainen; Juha Huttunen; I Kantola; Tatu A Miettinen; Kimmo Kontula
Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels.
Arteriosclerosis, thrombosis, and vascular biology 1998;18(4):591-8.
1998: Tiina Heliö; Markus Färkkilä; Leena Halme; M Karlsson; Aarno Palotie; Kimmo Kontula
[Genetic background and DNA diagnostics of hemochromatosis].
Duodecim; lääketieteellinen aikakauskirja 1998;114(14):1404-9.
1998: Kristiina M Saarinen; Heikki Swan; K Kainulainen; Lauri Toivonen; Matti Viitasalo; Kimmo Kontula
Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
Human mutation 1998;11(2):158-65.
1997: Alpo F Vuorio; Hannu Turtola; Kimmo Kontula
Neonatal diagnosis of familial hypercholesterolemia in newborns born to a parent with a molecularly defined heterozygous familial hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(11):3332-7.
1997: Alpo F Vuorio; Hannu Turtola; K M Piilahti; P Repo; T Kanninen; Kimmo Kontula
Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(11):3127-38.
1997: Helena E Miettinen; Matti Jauhiainen; Helena Gylling; Sonja Jaari; A Palomäki; Tatu A Miettinen; Kimmo Kontula
Apolipoprotein A-IFIN (Leu159-->Arg) mutation affects lecithin cholesterol acyltransferase activation and subclass distribution of HDL but not cholesterol efflux from fibroblasts.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(11):3021-32.
1997: Hannu Koistinen; Veikko Koivisto; Sture Andersson; Sirkka-Liisa Karonen; Kimmo Kontula; Laura J Oksanen; Kari Teramo
Leptin concentration in cord blood correlates with intrauterine growth.
The Journal of clinical endocrinology and metabolism 1997;82(10):3328-30.
1997: UM Koivisto; Helena Gylling; Tatu A Miettinen; Kimmo Kontula
Familial moderate hypercholesterolemia caused by Asp235-->Glu mutation of the LDL receptor gene and co-occurrence of a de novo deletion of the LDL receptor gene in the same family.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(7):1392-9.
1997: Laura J Oksanen; K Kainulainen; M Heiman; Pertti Mustajoki; R Kauppinen-Mäkelin; Kimmo Kontula
Novel polymorphism of the human ob gene promoter in lean and morbidly obese subjects.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 1997;21(6):489-94.
1997: Anu Suomalainen; A Majander; M Wallin; Kirsi Setälä; Kimmo Kontula; H Leinonen; T Salmi; Anders Paetau; Matti Haltia; Leena Valanne; J Lonnqvist; Leena Peltonen; Hannu Somer
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.
Neurology 1997;48(5):1244-53.
1997: Laura J Oksanen; Miina Ohman; M Heiman; K Kainulainen; Jaakko Kaprio; Pertti Mustajoki; Veikko Koivisto; Markku Koskenvuo; O A Jänne; Leena Peltonen; Kimmo Kontula
Markers for the gene ob and serum leptin levels in human morbid obesity.
Human genetics 1997;99(5):559-64.
1997: Alpo F Vuorio; Hannu Turtola; Kimmo Kontula
A novel point mutation (Pro84-->Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia.
Clinical genetics 1997;51(3):191-5.
1997: Alpo F Vuorio; L Paulin; Hannu Turtola; Kimmo Kontula
Deletions of the low density lipoprotein receptor gene underlying familial hypercholesterolaemia: screening by polymerase chain reaction using pooled DNA and blood samples.
Molecular and cellular probes 1997;11(1):65-70.
1997: Helena E Miettinen; Helena Gylling; Tatu A Miettinen; Jorma Viikari; L Paulin; Kimmo Kontula
Apolipoprotein A-IFin. Dominantly inherited hypoalphalipoproteinemia due to a single base substitution in the apolipoprotein A-I gene.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(1):83-90.
1997: Helena Gylling; Kimmo Kontula; UM Koivisto; Helena E Miettinen; Tatu A Miettinen
Polymorphisms of the genes encoding apoproteins A-I, B, C-III, and E and LDL receptor, and cholesterol and LDL metabolism during increased cholesterol intake. Common alleles of the apoprotein E gene show the greatest regulatory impact.
Arteriosclerosis, thrombosis, and vascular biology 1997;17(1):38-44.
1996: Laura J Oksanen; Pertti Mustajoki; Jaakko Kaprio; K Kainulainen; O Jänne; Leena Peltonen; Kimmo Kontula
Polymorphism of the beta 3-adrenergic receptor gene in morbid obesity.
International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity 1996;20(12):1055-61.
1996: Alpo F Vuorio; H Turtola; Kimmo Kontula
Arg 506 Gln factor V mutation (factor V Leiden) in patients with familial hypercholesterolaemia.
Thrombosis and haemostasis 1996;75(6):975-6.
1996: Kimmo Kontula; Christian Ehnholm
Regulatory mutations in human lipoprotein disorders and atherosclerosis.
Current opinion in lipidology 1996;7(2):64-8.
1996: U M Koivisto; Kimmo Kontula
A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
Human mutation 1996;8(4):326-32.
1995: Tuomo Polvikoski; R Sulkava; Matti Haltia; K Kainulainen; Alpo F Vuorio; Auli Verkkoniemi; Leena Niinistö; P Halonen; Kimmo Kontula
Apolipoprotein E, dementia, and cortical deposition of beta-amyloid protein.
The New England journal of medicine 1995;333(19):1242-7.
1995: U M Koivisto; Jorma S A Viikari; Kimmo Kontula
Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
American journal of human genetics 1995;57(4):789-97.
1995: K Kainulainen; Heikki Swan; H Miettinen; Matti Viitasalo; L Rovamo; Lauri Toivonen; Kimmo Kontula
Linkage of the long QT syndrome to the short arm of chromosome 11: use of five highly polymorphic markers towards more detailed localization of the mutant gene.
Human genetics 1995;96(4):395-400.
1995: E Sobel; J Louhija; R Sulkava; Z Davanipour; Kimmo Kontula; H Miettinen; Matti J Tikkanen; K Kainulainen; R Tilvis
Lack of association of apolipoprotein E allele epsilon 4 with late-onset Alzheimer's disease among Finnish centenarians.
Neurology 1995;45(5):903-7.
1995: H Miettinen; Helena Gylling; I Ulmanen; Tatu A Miettinen; Kimmo Kontula
Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency.
Arteriosclerosis, thrombosis, and vascular biology 1995;15(4):460-7.
1995: Kimmo Kontula; Antti Ylikorkala; H Miettinen; Alpo F Vuorio; R Kauppinen-Mäkelin; L Hämäläinen; Heikki Palomäki; Markku Kaste
Arg506Gln factor V mutation (factor V Leiden) in patients with ischaemic cerebrovascular disease and survivors of myocardial infarction.
Thrombosis and haemostasis 1995;73(4):558-60.
1995: Helena Gylling; Kimmo Kontula; Tatu A Miettinen
Cholesterol absorption and metabolism and LDL kinetics in healthy men with different apoprotein E phenotypes and apoprotein B Xba I and LDL receptor Pvu II genotypes.
Arteriosclerosis, thrombosis, and vascular biology 1995;15(2):208-13.
1995: Alpo F Vuorio; J P Ojala; S Sarna; Hannu Turtola; Matti J Tikkanen; Kimmo Kontula
Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low-density-lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment.
Journal of internal medicine 1995;237(1):43-8.
1994: U M Koivisto; Jorma J Palvimo; Olli A Jänne; Kimmo Kontula
A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(22):10526-30.
1994: Tiina Heliö; Aarno Palotie; Timo Sane; Matti J Tikkanen; Kimmo Kontula
No evidence for linkage between familial hypertriglyceridemia and apolipoprotein B, apolipoprotein C-III or lipoprotein lipase genes.
Human genetics 1994;94(3):271-8.
1994: Helena E Miettinen; K Korpela; L Hämäläinen; Kimmo Kontula
Polymorphisms of the apolipoprotein and angiotensin converting enzyme genes in young North Karelian patients with coronary heart disease.
Human genetics 1994;94(2):189-92.
1994: J Louhija; Helena E Miettinen; Kimmo Kontula; Matti J Tikkanen; Tatu A Miettinen; Reijo S Tilvis
Aging and genetic variation of plasma apolipoproteins. Relative loss of the apolipoprotein E4 phenotype in centenarians.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1994;14(7):1084-9.
1994: R J Kaaja; Kimmo Kontula; A Räihä; TJ Laatikainen
Treatment of cholestasis of pregnancy with peroral activated charcoal. A preliminary study.
Scandinavian journal of gastroenterology 1994;29(2):178-81.
1994: Kimmo Kontula; U M Koivisto; H Miettinen; Alpo F Vuorio
[The Finnish genes of coronary heart disease].
Duodecim; lääketieteellinen aikakauskirja 1994;110(7):721-9.
1993: P V Koivisto; U M Koivisto; Petri Kovanen; Helena Gylling; Tatu A Miettinen; Kimmo Kontula
Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1993;13(11):1680-8.
1993: U M Koivisto; L Hämäläinen; Marja-Riitta Taskinen; K Kettunen; Kimmo Kontula
Prevalence of familial hypercholesterolemia among young north Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction.
Journal of lipid research 1993;34(2):269-77.
1992: T Mäki; Leif C Andersson; Kimmo Kontula
Expression and function of beta-adrenergic receptors in human hematopoietic cell lines.
European journal of haematology 1992;49(5):263-8.
1992: Kimmo Kontula; U M Koivisto; P Koivisto; Hannu Turtola
Molecular genetics of familial hypercholesterolaemia: common and rare mutations of the low density lipoprotein receptor gene.
Annals of medicine 1992;24(5):363-7.
1992: U M Koivisto; Hannu Turtola; K Aalto-Setälä; B Top; R R Frants; Petri Kovanen; Ann-Christine Syvänen; Kimmo Kontula
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
The Journal of clinical investigation 1992;90(1):219-28.
1992: Kimmo Kontula; U M Koivisto; H Miettinen
The use of PCR in diagnosing lipoprotein disorders.
Annals of medicine 1992;24(3):195-9.
1992: P V Koivisto; U M Koivisto; Tatu A Miettinen; Kimmo Kontula
Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1992;12(5):584-92.
1992: H Tenkanen; P Koskinen; Jari Metso; M Baumann; M Lukka; R Kauppinen-Mäkelin; Kimmo Kontula; M R Taskinen; Matti Mänttäri; Vesa Manninen
A novel polymorphism of apolipoprotein A-IV is the result of an asparagine to serine substitution at residue 127.
Biochimica et biophysica acta 1992;1138(1):27-33.
1992: Markku S Nieminen; K J Mattila; K Aalto-Setälä; Tuomo Kuusi; Kimmo Kontula; R Kauppinen-Mäkelin; Christian Ehnholm; Matti Jauhiainen; M Valle; Marja-Riitta Taskinen
Lipoproteins and their genetic variation in subjects with and without angiographically verified coronary artery disease.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1992;12(1):58-69.
1991: J P Ojala; E Helve; Christian Ehnholm; K Aalto-Setälä; Kimmo Kontula; Matti J Tikkanen
Effect of apolipoprotein E polymorphism and XbaI polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hypercholesterolaemia.
Journal of internal medicine 1991;230(5):397-405.
1991: Helena Gylling; K Aalto-Setälä; Kimmo Kontula; Tatu A Miettinen
Serum low density lipoprotein cholesterol level and cholesterol absorption efficiency are influenced by apolipoprotein B and E polymorphism and by the FH-Helsinki mutation of the low density lipoprotein receptor gene in familial hypercholesterolemia.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1991;11(5):1368-75.
1991: K Aalto-Setälä; J Viikari; Hans K Akerblom; V Kuusela; Kimmo Kontula
DNA polymorphisms of the apolipoprotein B and A-I/C-III genes are associated with variations of serum low density lipoprotein cholesterol level in childhood.
Journal of lipid research 1991;32(9):1477-87.
1991: H Tenkanen; P Koshinen; Kimmo Kontula; K Aalto-Setälä; Matti Mänttäri; Vesa Manninen; S L Runeberg; M R Taskinen; Christian Ehnholm
Polymorphisms of the gene encoding cholesterol ester transfer protein and serum lipoprotein levels in subjects with and without coronary heart disease.
Human genetics 1991;87(5):574-8.
1991: K Aalto-Setälä; Kimmo Kontula; Matti Mänttäri; J Huttunen; Vesa Manninen; Petri Koskinen; H M Frick
DNA polymorphisms of apolipoprotein B and AI/CIII genes and response to gemfibrozil treatment.
Clinical pharmacology and therapeutics 1991;50(2):208-14.
1991: Markku Savolainen; T Korhonen; K Aalto-Setälä; Kimmo Kontula; Y Antero Kesäniemi
Screening for a prevalent LDL receptor mutation in patients with severe hypercholesterolaemia.
Human genetics 1991;87(2):125-8.
1991: E Heikkonen; T Mäki; Kimmo Kontula; R Ylikahri; Matti Härkönen
Physical exercise after alcohol intake: effect on plasma catecholamines and lymphocytic beta-adrenergic receptors.
Alcoholism, clinical and experimental research 1991;15(2):291-4.
1991: K Aalto-Setälä; Kimmo Kontula
Molecular genetics of familial hypercholesterolemia.
Advances in experimental medicine and biology 1991;285():33-7.
1990: Kimmo Kontula; K Aalto-Setälä; Tuomo Kuusi; L Hämäläinen; Ann-Christine Syvänen
Apolipoprotein E polymorphism determined by restriction enzyme analysis of DNA amplified by polymerase chain reaction: convenient alternative to phenotyping by isoelectric focusing.
Clinical chemistry 1990;36(12):2087-92.
1990: T Hämäläinen; Aarno Palotie; K Aalto-Setälä; Kimmo Kontula; Matti J Tikkanen
Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol.
Atherosclerosis 1990;82(3):177-83.
1990: M Keinänen; J P Ojala; E Helve; K Aalto-Setälä; Kimmo Kontula; Petri Kovanen
Use of polymerase chain reaction to detect heterozygous familial hypercholesterolemia.
Clinical chemistry 1990;36(6):900-3.
1990: T Mäki; E Heikkonen; T Härkönen; Kimmo Kontula; Matti Härkönen; R Ylikahri
Reduction of lymphocytic beta-adrenoceptor level in chronic alcoholics and rapid reversal after ethanol withdrawal.
European journal of clinical investigation 1990;20(3):313-6.
1990: T Mäki; Hannu Näveri; H Leinonen; Anssi Sovijärvi; B Lewko; Matti Härkönen; Kimmo Kontula
Effect of propranolol and pindolol on the up-regulation of lymphocytic beta adrenoceptors during acute submaximal physical exercise. A placebo-controlled double-blind study.
Journal of cardiovascular pharmacology 1990;15(4):544-51.
1990: Kimmo Kontula
Molecular basis of hyperlipidemias: lessons from the Finnish gene inheritage.
Annals of medicine 1990;22(5):303-5.
1990: T Mäki; Kimmo Kontula; Matti Härkönen
The beta-adrenergic system in man: physiological and pathophysiological response. Regulation of receptor density and functioning.
Scandinavian journal of clinical and laboratory investigation. Supplementum 1990;201():25-43.
1989: Tiina Alitalo; Kimmo Kontula; Riitta Koistinen; K Aalto-Setälä; M Julkunen; Olli A Jänne; Markku Seppala; Albert de La Chapelle
The gene encoding human low-molecular weight insulin-like growth-factor binding protein (IGF-BP25): regional localization to 7p12-p13 and description of a DNA polymorphism.
Human genetics 1989;83(4):335-8.
1989: T Mäki; Hannu Somer; Helena Pihko; M Lindlöf; Kimmo Kontula; Matti Härkönen
Lymphocytic beta-adrenergic receptors in X-linked muscular dystrophy.
Journal of the neurological sciences 1989;92(2-3):281-90.
1989: K Aalto-Setälä; E Helve; Petri Kovanen; Kimmo Kontula
Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.
The Journal of clinical investigation 1989;84(2):499-505.
1989: K Aalto-Setälä; Helena Gylling; E Helve; P Kovanen; Tatu A Miettinen; Hannu Turtola; Kimmo Kontula
Genetic polymorphism of the apolipoprotein B gene locus influences serum LDL cholesterol level in familial hypercholesterolemia.
Human genetics 1989;82(4):305-7.
1989: T Mäki; H Leinonen; Hannu Näveri; Anssi Sovijärvi; Kimmo Kontula; Matti Härkönen
Response of the beta-adrenergic system to maximal dynamic exercise in congestive heart failure secondary to idiopathic dilated cardiomyopathy.
The American journal of cardiology 1989;63(18):1348-53.
1989: E Heikkonen; T Mäki; Kimmo Kontula; R Ylikahri; Matti Härkönen
Effect of acute ethanol intake and hangover on the levels of plasma and urinary catecholamines and lymphocytic beta-adrenergic receptors.
Alcoholism, clinical and experimental research 1989;13(1):20-4.
1989: T Mäki; Matti Härkönen; Hannu Näveri; H Leinonen; Kimmo Kontula
[Adrenergic receptors].
Duodecim; lääketieteellinen aikakauskirja 1989;105(1):8-20.
1988: K Aalto-Setälä; Matti J Tikkanen; Marja-Riitta Taskinen; M Nieminen; P Holmberg; Kimmo Kontula
XbaI and c/g polymorphisms of the apolipoprotein B gene locus are associated with serum cholesterol and LDL-cholesterol levels in Finland.
Atherosclerosis 1988;74(1-2):47-54.
1988: M Julkunen; Riitta Koistinen; K Aalto-Setälä; Markku Seppala; Olli A Jänne; Kimmo Kontula
Primary structure of human insulin-like growth factor-binding protein/placental protein 12 and tissue-specific expression of its mRNA.
FEBS letters 1988;236(2):295-302.
1988: T Mäki; Hannu Näveri; Matti Härkönen; Kimmo Kontula
Propranolol attenuates exercise-induced increment in human lymphocytic beta-adrenergic receptors.
Scandinavian journal of clinical and laboratory investigation 1988;48(4):357-63.
1988: K Aalto-Setälä; Helena Gylling; Tatu A Miettinen; Kimmo Kontula
Identification of a deletion in the LDL receptor gene. A Finnish type of mutation.
FEBS letters 1988;230(1-2):31-4.
1987: K Aalto-Setälä; Kimmo Kontula; T Sane; M Nieminen; E Nikkilä
DNA polymorphisms of apolipoprotein A-I/C-III and insulin genes in familial hypertriglyceridemia and coronary heart disease.
Atherosclerosis 1987;66(1-2):145-52.
1986: Kimmo Kontula; K Aalto-Setälä; E Nikkilä
DNA, hyperlipidaemias and atherosclerosis.
Annals of clinical research 1986;18(5-6):242-9.