University of Groningen. Inherited cardiomyopathies Tintelen, Johannes Peter van
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1 University of Groningen Inherited cardiomyopathies Tintelen, Johannes Peter van IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below. Document Version Publisher's PDF, also known as Version of record Publication date: 2008 Link to publication in University of Groningen/UMCG research database Citation for published version (APA): Tintelen, J. P. V. (2008). Inherited cardiomyopathies s.n. Copyright Other than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons). Take-down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. Downloaded from the University of Groningen/UMCG research database (Pure): For technical reasons the number of authors shown on this cover page is limited to 10 maximum. Download date:
2 List of publications Cox MGPJ, Nelen MR, Wilde AAM, Wiesfeld AC, van der Smagt JJ, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JMT, Hauer RNW. Activation Delay and VT Parameters in Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy: Toward Improvement of Diagnostic ECG Criteria. Accepted J Cardiovasc Electrophysiol. Hendriks KSWH, Hendriks MMWB, Bernie E, Grosfeld FJM, Wilde AAM, van den Bout J, Smets EMA, van Tintelen JP, ten Kroode HFJ, van Langen IM. Familial Disease with a Risk of Sudden Death: A longitudinal study of the psychological consequences of predictive testing for Long QT Syndrome. Accepted Heart Rhythm. Aalberts JJJ, van den Berg MP, Bergman J, du Marchie Sarvaas GJ, van Unen H, Pals G, Boonstra PW, van Tintelen JP. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Accepted Neth Heart J. van Spaendonck-Zwarts KY, van den Berg MP, van Tintelen JP. DNA analysis in inherited cardiomyopathies: current status and clinical relevance. PACE. 2008; 31:S46-S49. van Tintelen JP, Hofstra RMW, Katerberg H, Rossenbacker T, Wiesfeld ACP, du Marchie Sarvaas GJ, Wilde AAM, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP. High Yield of LMNA Mutations in Patients with Dilated Cardiomyopathy and/or Conduction Disease Referred to Cardiogenetics Outpatient Clinics. Am Heart J. 2007; 154; Wiesfeld ACP, van Tintelen JP, van den Berg MP. Cardiogenetica. Patient Care. 2007; 34: Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, Postma AV, van Langen I, Mannens MM, Wilde AA. Expanding Spectrum of Human RyR2-related Disease: New Electrocardiographic, Structural and Genetic features. Circulation. 2007; 116: Bergman JEH, Veenstra-Knol HE, van Essen AJ, den Dunnen W, van den Wijngaard A, van Tintelen JP. Two related Dutch families with cardioskeletal myopathy caused by a novel Ser13Phe mutation in the desmin gene. Eur J Med Genet. 2007; 50: Hoedemaekers E, Jaspers JP, van Tintelen JP. The infl uence of coping styles and perceived control on emotional distress in persons at risk for a hereditary heart disease. Am J Med Genet 2007; 143A: van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJH, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CHCM, Hofstra RMW, Pinto YM. Severe myocardial fi brosis caused by a deletion of the 5 end of the lamin A/C gene. J Am Coll Cardiol. 2007; 49:
3 Wiesfeld ACP, van den Berg MP, van Tintelen JP, van Veldhuisen DJ. Cardiogenetica: het belang van identifi catie van patienten met een genetische hartaandoening. Ned Tijdschr Geneeskd. 2007; 151: van Tintelen JP, Hofstra RM, Wiesfeld AC, van den Berg MP, Hauer RN, Jongbloed JD. Molecular genetics of Arrhythmogenic Right Ventricular Cardiomyopathy: emerging horizon? Curr Opin Cardiol. 2007; 22: van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. Plakophilin-2 mutations are the major determinant of familial Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy. Circulation. 2006; 113: Hermans JF, Christiaans I, van Tintelen JP, Wilde AA, Pinto YM. GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands. Neth Heart J. 2006; 14: Schoonderwoerd BA, Wiesfeld AC, Wilde AA, van den Heuvel F, van Tintelen JP, van den Berg MP, van Veldhuisen DJ, van Gelder IC. A family with Andersen-Tawil syndrome and dilated cardiomyopathy. Heart Rhythm. 2006; 3: Lorsheyd A, Cramer MJ, Velthuis BK, Vonken EJP, van der Smagt J, van Tintelen P, Hauer RNW. Familial Occurrence of Isolated Non-Compaction Cardiomyopathy. Eur J Heart Fail. 2006; 8: van den Berg MP, van Tintelen JP. Quantifi cation of repolarization morphology in the long QT-syndrome in the genomic era. Heart Rhythm. 2006; 3: van Berlo JH, de Voogt WG, van der Kooi AJ, van Tintelen JP, Bonne G, Yaou RB, Duboc D, Rossenbacker T, Heidbüchel H, de Visser M, Crijns HJ, Pinto YM. Metaanalysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med. 2005; 83: Meijboom LJ, Timmermans J, van Tintelen JP, Nollen GJ, De Backer J, van den Berg MP, Boers GH, Mulder BJM. Evaluation of left ventricular dimensions and function in Marfan s Syndrome without signifi cant valvular regurgitation. Am J Cardiol. 2005; 95: Hendriks KSWH, Grosfeld FJM, Wilde AAM, van den Bout J, van Langen IM, van Tintelen JP, ten Kroode HFJ High distress in parents whose children undergo predictive genetic testing for long QT syndrome. Community Genet. 2005; 8: van Straaten HL, van Tintelen JP, Trijbels JM, van den Heuvel LP, Troost D, Rozemuller JM, Duran M, de Vries LS, Schülke M, Barth PG. Neonatal lactic acidosis, complex I/IV defi ciency and fetal brain disruption. Neuropediatrics. 2005; 36:
4 Beaufort-Krol GCM, van den Berg MP, Wilde AA, van Tintelen JP, Viersma JW, Bezzina CR, Bink-Boelkens MT. Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. J Am Coll Cardiol. 2005; 46: Wiesfeld ACP, Hemels ME, van Tintelen JP, van den Berg MP, van Veldhuisen DJ, van Gelder IC. Genetic aspects of atrial fi brillation. Cardiovasc Res. 2005; 67: Hendriks KS, van Langen IM, van Tintelen JP, Grosfeld FJ, Wilde AA, ten Kroode HF. An extended family suddenly confronted with a life threatening hereditary arrhythmia. Neth Heart J. 2005; 13: Hendriks KS, Grosfeld FJ, van Tintelen JP, van Langen IM, Wilde AA, van den Bout J, ten Kroode HF. Can parents adjust to the idea that their child is at risk for a sudden death? Psychological impact of risk for Long QT Syndrome. Am J Med Genet. 2005; 138A: Hoedemaekers E, Jaspers JP, van Tintelen P. De invloed van copingstijl en ervaren controle op psychisch welbevinden bij adviesvragers van een erfelijke hartaandoening. Gedrag en gezondheid. 2005; 33: Engelbert RH, Uiterwaal CS, van de Putte E, Helders PJ, Sakkers RJ, van Tintelen P, Bank RA Pediatric generalized joint hypomobility and musculoskeletal complaints; a new entity? Clinical, biochemical, and osseal characteristics. Pediatrics. 2004; 113: van den Berg MP, van Tintelen JP, van Dessel PF, van Veldhuisen DJ. Implanteerbare cardioverterende defi brillator bij de behandeling van 2 patiënten met een verhoogde kans op plotse hartdood. Ned Tijdschr Geneeskd. 2004; 148: van der Harst P, Wiesfeld AC, van Gelder IC, van Tintelen JP, Suurmeijer AJ, van Veldhuisen DJ. Aritmogene rechterventrikelcardiomyopathie: verschillende uitingen als voorbode van mogelijk te voorkomen plotse hartdood. Ned Tijdschr Geneeskd. 2004; 148: Groenewegen WA, Bezzina CR, van Tintelen JP, Hoorntje TM, Mannens MM, Wilde AA, Jongsma HJ, Rook MB A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 inactivation kinetics. Cardiovasc Res. 2003; 57: Conrath CE, Wilde AA, Jongbloed RJ, Alders M, van Langen IM, van Tintelen JP, Doevendans PA, Opthof T. Gender differences in the long QT syndrome: effects of beta-adrenoceptor blockade. Cardiovasc Res. 2002; 53: Littooij AS, Hochstenbach R, Sinke RJ, van Tintelen P, Giltay JC. Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow up. Am J Med Genet. 2002; 109:
5 van den Berg MP, Viersma JW, Beaufort-Krol GCM, Bink-Boelkens MThE, Bezzina CR, Veldkamp MW, Brouwer J, Haaksma J, van Tintelen JP, van Langen IM, Wouda WW, Wilde AA. A large family characterised by noctural sudden death. Neth Heart J. 2002; 10: Sikkens EH, de Walle HEK, Reefhuis J, van Tintelen JP, van Essen AJ. Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern Netherlands. Am J Med Genet. 2002; 112: Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen P, van den Berg MP, Wilde AA, Balser JR. A novel sodium channel mutation causes isolated cardiac conduction disease. Nature. 2001; 409: van den Berg MP, van Tintelen JP. Nieuwe inzichten in het congenitale lange QTsyndroom. Hartbulletin. 2001; 32: de Pater JM, van Tintelen JP, Stigter R, Brouwers HA, Scheres JM. Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorfi sm, but trisomy 17p. Genet Couns. 2000; 11: ten Kroode HF, van Langen IM, Hendriks KS, van Tintelen JP, Grosveld FJ, Wilde AA. Het lang QT-intervalsyndroom en erfelijkheidsonderzoek: psychische reacties in drie generaties van een familie. Ned Tijdschr Geneeskd. 2000; 144: Brunner HG, van Tintelen JP, de Boer RJ. Bohring syndrome. Am J Med Genet. 2000; 92: London B, Wilde AA, Mannens MM, Alders M, van der Lip K, Hoorntje TM, Sreeram N, van Tintelen P, van der Wal A. A Knockout May Not Always Be a Knockout; Response. Circulation. 2000; 102 e122. Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ. KCNQ1 and HERG missense mutations in Dutch Long -QT families. Hum Mutat. 1999; 13: Wilde AA, Jongbloed RJ, Doevendans PA, Duren DR, Hauer RN, van Langen IM, van Tintelen JP, Smeets HJ, Meyer H, Geelen JL. Auditory stimuli as a trigger for arrythmic events differentiate HERG-related (LQTS2) patients from KvLQT1-related patients (LQTS1). J Am Coll Cardiol. 1999; 33: Van Langen IM, van Tintelen JP. Klinisch-genetisch onderzoek in de cardiologie, deel 1 Cardiologie. 1999; 6:13-22 Van Langen IM, van Tintelen JP. Klinisch-genetisch onderzoek in de cardiologie, deel 2 Cardiologie. 1999; 6:
6 Wilde AAM, van Langen IM, Mannens MMAM,Doevendans PAFM, van Veldhuisen DJ, van Tintelen JP, Smeets H. Hypertrofi sche cardiomyopathie; bij wie en waarom genetisch onderzoek. Tijdschrift voor Cardiologie. 1999; 11:1-4. Wilde AAM, van Langen IM, Mannens MMAM, Doevendans PAFM, van Veldhuisen DJ, van Tintelen JP, Smeets H Analyse génétique dans la cardiomyopathie ischémique: quels patients et pourquoi? Journal de Cardiologie. 1999; 11:1-4. Wilde AA, van Langen IM, van Tintelen JP, Hauer RN. Presymptomatisch onderzoek na plotselinge hartdood in de familie. Ned Tijdschr Geneeskd. 1999; 143: Conrath CE, Jongbloed RJE, van Langen IM, van Tintelen JP, Hauer RNW, Robles de Medina EO, Duren DR, Hoorntje TM, Lubbers LJ, Doevendans PAFM, Mannens MMAM, Geelen JLMC, Smeets HJM, Wilde AAM. Gene-specifi c distribution of cardiac events in LQTS1 and LQTS2. Cardiologie. 1999; 6: Hoorntje T, Alders M, van Tintelen P, van der Lip K, Sreeram N, van der Wal A, Mannens M, Wilde A. Homozygous premature truncation of the HERG protein: the human HERG knockout. Circulation. 1999;100: van Tintelen JP, Beemer FA. Gedisproportioneerde lengtegroei in de JGZ-praktijk Tijdschr voor Jeugdgezondheidszorg. 1997; 5:
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