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Items: 1 to 20 of 240

1.

Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy.

Te Rijdt WP, Asimaki A, Jongbloed JDH, Hoorntje ET, Lazzarini E, van der Zwaag PA, de Boer RA, van Tintelen JP, Saffitz JE, van den Berg MP, Suurmeijer AJH.

Cardiovasc Pathol. 2018 Dec 21;40:2-6. doi: 10.1016/j.carpath.2018.12.006. [Epub ahead of print]

PMID:
30763825
2.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jan 29. doi: 10.1038/s41436-018-0368-y. [Epub ahead of print]

PMID:
30696996
3.

Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.

Brazel DM, Jiang Y, Hughey JM, Turcot V, Zhan X, Gong J, Batini C, Weissenkampen JD, Liu M; CHD Exome+ Consortium; Consortium for Genetics of Smoking Behaviour, Barnes DR, Bertelsen S, Chou YL, Erzurumluoglu AM, Faul JD, Haessler J, Hammerschlag AR, Hsu C, Kapoor M, Lai D, Le N, de Leeuw CA, Loukola A, Mangino M, Melbourne CA, Pistis G, Qaiser B, Rohde R, Shao Y, Stringham H, Wetherill L, Zhao W, Agrawal A, Bierut L, Chen C, Eaton CB, Goate A, Haiman C, Heath A, Iacono WG, Martin NG, Polderman TJ, Reiner A, Rice J, Schlessinger D, Scholte HS, Smith JA, Tardif JC, Tindle HA, van der Leij AR, Boehnke M, Chang-Claude J, Cucca F, David SP, Foroud T, Howson JMM, Kardia SLR, Kooperberg C, Laakso M, Lettre G, Madden P, McGue M, North K, Posthuma D, Spector T, Stram D, Tobin MD, Weir DR, Kaprio J, Abecasis GR, Liu DJ, Vrieze S.

Biol Psychiatry. 2018 Dec 6. pii: S0006-3223(18)32056-0. doi: 10.1016/j.biopsych.2018.11.024. [Epub ahead of print]

PMID:
30679032
4.

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.

Erzurumluoglu AM, Liu M, Jackson VE, Barnes DR, Datta G, Melbourne CA, Young R, Batini C, Surendran P, Jiang T, Adnan SD, Afaq S, Agrawal A, Altmaier E, Antoniou AC, Asselbergs FW, Baumbach C, Bierut L, Bertelsen S, Boehnke M, Bots ML, Brazel DM, Chambers JC, Chang-Claude J, Chen C, Corley J, Chou YL, David SP, de Boer RA, de Leeuw CA, Dennis JG, Dominiczak AF, Dunning AM, Easton DF, Eaton C, Elliott P, Evangelou E, Faul JD, Foroud T, Goate A, Gong J, Grabe HJ, Haessler J, Haiman C, Hallmans G, Hammerschlag AR, Harris SE, Hattersley A, Heath A, Hsu C, Iacono WG, Kanoni S, Kapoor M, Kaprio J, Kardia SL, Karpe F, Kontto J, Kooner JS, Kooperberg C, Kuulasmaa K, Laakso M, Lai D, Langenberg C, Le N, Lettre G, Loukola A, Luan J, Madden PAF, Mangino M, Marioni RE, Marouli E, Marten J, Martin NG, McGue M, Michailidou K, Mihailov E, Moayyeri A, Moitry M, Müller-Nurasyid M, Naheed A, Nauck M, Neville MJ, Nielsen SF, North K, Perola M, Pharoah PDP, Pistis G, Polderman TJ, Posthuma D, Poulter N, Qaiser B, Rasheed A, Reiner A, Renström F, Rice J, Rohde R, Rolandsson O, Samani NJ, Samuel M, Schlessinger D, Scholte SH, Scott RA, Sever P, Shao Y, Shrine N, Smith JA, Starr JM, Stirrups K, Stram D, Stringham HM, Tachmazidou I, Tardif JC, Thompson DJ, Tindle HA, Tragante V, Trompet S, Turcot V, Tyrrell J, Vaartjes I, van der Leij AR, van der Meer P, Varga TV, Verweij N, Völzke H, Wareham NJ, Warren HR, Weir DR, Weiss S, Wetherill L, Yaghootkar H, Yavas E, Jiang Y, Chen F, Zhan X, Zhang W, Zhao W, Zhao W, Zhou K, Amouyel P, Blankenberg S, Caulfield MJ, Chowdhury R, Cucca F, Deary IJ, Deloukas P, Di Angelantonio E, Ferrario M, Ferrières J, Franks PW, Frayling TM, Frossard P, Hall IP, Hayward C, Jansson JH, Jukema JW, Kee F, Männistö S, Metspalu A, Munroe PB, Nordestgaard BG, Palmer CNA, Salomaa V, Sattar N, Spector T, Strachan DP; Understanding Society Scientific Group, EPIC-CVD, GSCAN, Consortium for Genetics of Smoking Behaviour, CHD Exome+ consortium, van der Harst P, Zeggini E, Saleheen D, Butterworth AS, Wain LV, Abecasis GR, Danesh J, Tobin MD, Vrieze S, Liu DJ, Howson JMM.

Mol Psychiatry. 2019 Jan 7. doi: 10.1038/s41380-018-0313-0. [Epub ahead of print]

PMID:
30617275
5.

Prevalence and cardiac phenotype of patients with a phospholamban mutation.

Hof IE, van der Heijden JF, Kranias EG, Sanoudou D, de Boer RA, van Tintelen JP, van der Zwaag PA, Doevendans PA.

Neth Heart J. 2019 Feb;27(2):64-69. doi: 10.1007/s12471-018-1211-4. Review.

PMID:
30547415
6.

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Qualls AE, Donkervoort S, Herkert JC, D'gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB.

Muscle Nerve. 2019 Mar;59(3):357-362. doi: 10.1002/mus.26378. Epub 2018 Nov 28.

PMID:
30412272
7.

Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases.

Nannenberg EA, van Rijsingen IAW, van der Zwaag PA, van den Berg MP, van Tintelen JP, Tanck MWT, Ackerman MJ, Wilde AAM, Christiaans I.

Circ Genom Precis Med. 2018 Oct;11(10):e001797. doi: 10.1161/CIRCGEN.117.001797.

PMID:
30354299
8.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2018 Nov 8. doi: 10.1038/s41436-018-0330-z. [Epub ahead of print] Erratum in: Genet Med. 2019 Jan 29;:.

PMID:
30349098
9.

Author Correction: Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome.

Zhernakova DV, Le TH, Kurilshikov A, Atanasovska B, Bonder MJ, Sanna S, Claringbould A, Võsa U, Deelen P, Franke L, de Boer RA, Kuipers F, Netea MG, Hofker MH, Wijmenga C, Zhernakova A, Fu J; LifeLines cohort study; BIOS consortium.

Nat Genet. 2018 Dec;50(12):1752. doi: 10.1038/s41588-018-0275-9.

PMID:
30341443
10.

Heart failure and diabetes: metabolic alterations and therapeutic interventions: a state-of-the-art review from the Translational Research Committee of the Heart Failure Association-European Society of Cardiology.

Maack C, Lehrke M, Backs J, Heinzel FR, Hulot JS, Marx N, Paulus WJ, Rossignol P, Taegtmeyer H, Bauersachs J, Bayes-Genis A, Brutsaert D, Bugger H, Clarke K, Cosentino F, De Keulenaer G, Dei Cas A, González A, Huelsmann M, Iaccarino G, Lunde IG, Lyon AR, Pollesello P, Rena G, Riksen NP, Rosano G, Staels B, van Laake LW, Wanner C, Farmakis D, Filippatos G, Ruschitzka F, Seferovic P, de Boer RA, Heymans S.

Eur Heart J. 2018 Dec 21;39(48):4243-4254. doi: 10.1093/eurheartj/ehy596. No abstract available.

11.

Individual variations in cardiovascular-disease-related protein levels are driven by genetics and gut microbiome.

Zhernakova DV, Le TH, Kurilshikov A, Atanasovska B, Bonder MJ, Sanna S, Claringbould A, Võsa U, Deelen P, Franke L, de Boer RA, Kuipers F, Netea MG, Hofker MH, Wijmenga C, Zhernakova A, Fu J; LifeLines cohort study; BIOS consortium.

Nat Genet. 2018 Nov;50(11):1524-1532. doi: 10.1038/s41588-018-0224-7. Epub 2018 Sep 24. Erratum in: Nat Genet. 2018 Oct 19;:.

PMID:
30250126
12.

Prediction of Extensive Myocardial Fibrosis in Nonhigh Risk Patients With Hypertrophic Cardiomyopathy.

Gommans DHF, Cramer GE, Fouraux MA, Bakker J, Michels M, Dieker HJ, Timmermans J, Marcelis CLM, Verheugt FWA, de Boer MJ, Kofflard MJM, de Boer RA, Brouwer MA.

Am J Cardiol. 2018 Aug 1;122(3):483-489. doi: 10.1016/j.amjcard.2018.04.020. Epub 2018 May 1.

13.

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Hoorntje ET, Posafalvi A, Syrris P, van der Velde KJ, Bolling MC, Protonotarios A, Boven LG, Amat-Codina N, Groeneweg JA, Wilde AA, Sobreira N, Calkins H, Hauer RNW, Jonkman MF, McKenna WJ, Elliott PM, Sinke RJ, van den Berg MP, Chelko SP, James CA, van Tintelen JP, Judge DP, Jongbloed JDH.

PLoS One. 2018 Aug 30;13(8):e0203078. doi: 10.1371/journal.pone.0203078. eCollection 2018.

14.

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

Prins BP, Mead TJ, Brody JA, Sveinbjornsson G, Ntalla I, Bihlmeyer NA, van den Berg M, Bork-Jensen J, Cappellani S, Van Duijvenboden S, Klena NT, Gabriel GC, Liu X, Gulec C, Grarup N, Haessler J, Hall LM, Iorio A, Isaacs A, Li-Gao R, Lin H, Liu CT, Lyytikäinen LP, Marten J, Mei H, Müller-Nurasyid M, Orini M, Padmanabhan S, Radmanesh F, Ramirez J, Robino A, Schwartz M, van Setten J, Smith AV, Verweij N, Warren HR, Weiss S, Alonso A, Arnar DO, Bots ML, de Boer RA, Dominiczak AF, Eijgelsheim M, Ellinor PT, Guo X, Felix SB, Harris TB, Hayward C, Heckbert SR, Huang PL, Jukema JW, Kähönen M, Kors JA, Lambiase PD, Launer LJ, Li M, Linneberg A, Nelson CP, Pedersen O, Perez M, Peters A, Polasek O, Psaty BM, Raitakari OT, Rice KM, Rotter JI, Sinner MF, Soliman EZ, Spector TD, Strauch K, Thorsteinsdottir U, Tinker A, Trompet S, Uitterlinden A, Vaartjes I, van der Meer P, Völker U, Völzke H, Waldenberger M, Wilson JG, Xie Z, Asselbergs FW, Dörr M, van Duijn CM, Gasparini P, Gudbjartsson DF, Gudnason V, Hansen T, Kääb S, Kanters JK, Kooperberg C, Lehtimäki T, Lin HJ, Lubitz SA, Mook-Kanamori DO, Conti FJ, Newton-Cheh CH, Rosand J, Rudan I, Samani NJ, Sinagra G, Smith BH, Holm H, Stricker BH, Ulivi S, Sotoodehnia N, Apte SS, van der Harst P, Stefansson K, Munroe PB, Arking DE, Lo CW, Jamshidi Y.

Genome Biol. 2018 Jul 17;19(1):87. doi: 10.1186/s13059-018-1457-6.

15.

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thüsen JH, Brosens E, Christiaans I, Dooijes D, Helderman-van den Enden ATJM, Lekanne Deprez RH, Michels M, van Mil AM, Oldenburg RA, van der Smagt JJ, van den Wijngaard A, Wessels MW, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, van de Laar IMBH.

Eur J Hum Genet. 2018 Nov;26(11):1603-1610. doi: 10.1038/s41431-018-0208-1. Epub 2018 Jul 9.

16.

ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.

Bihlmeyer NA, Brody JA, Smith AV, Warren HR, Lin H, Isaacs A, Liu CT, Marten J, Radmanesh F, Hall LM, Grarup N, Mei H, Müller-Nurasyid M, Huffman JE, Verweij N, Guo X, Yao J, Li-Gao R, van den Berg M, Weiss S, Prins BP, van Setten J, Haessler J, Lyytikäinen LP, Li M, Alonso A, Soliman EZ, Bis JC, Austin T, Chen YI, Psaty BM, Harrris TB, Launer LJ, Padmanabhan S, Dominiczak A, Huang PL, Xie Z, Ellinor PT, Kors JA, Campbell A, Murray AD, Nelson CP, Tobin MD, Bork-Jensen J, Hansen T, Pedersen O, Linneberg A, Sinner MF, Peters A, Waldenberger M, Meitinger T, Perz S, Kolcic I, Rudan I, de Boer RA, van der Meer P, Lin HJ, Taylor KD, de Mutsert R, Trompet S, Jukema JW, Maan AC, Stricker BHC, Rivadeneira F, Uitterlinden A, Völker U, Homuth G, Völzke H, Felix SB, Mangino M, Spector TD, Bots ML, Perez M, Raitakari OT, Kähönen M, Mononen N, Gudnason V, Munroe PB, Lubitz SA, van Duijn CM, Newton-Cheh CH, Hayward C, Rosand J, Samani NJ, Kanters JK, Wilson JG, Kääb S, Polasek O, van der Harst P, Heckbert SR, Rotter JI, Mook-Kanamori DO, Eijgelsheim M, Dörr M, Jamshidi Y, Asselbergs FW, Kooperberg C, Lehtimäki T, Arking DE, Sotoodehnia N.

Circ Genom Precis Med. 2018 Jan;11(1):e001758. doi: 10.1161/CIRCGEN.117.001758. Erratum in: Circ Genom Precis Med. 2018 Sep;11(9):e000050.

17.

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.

Yenamandra VK, van den Akker PC, Lemmink HH, Jan SZ, Diercks GFH, Vermeer M, van den Berg MP, van der Meer P, Pasmooij AMG, Sinke RJ, Jonkman MF, Bolling MC.

Br J Dermatol. 2018 Nov;179(5):1181-1183. doi: 10.1111/bjd.16797. Epub 2018 Aug 14. No abstract available.

PMID:
29779254
18.

Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.

Lin H, van Setten J, Smith AV, Bihlmeyer NA, Warren HR, Brody JA, Radmanesh F, Hall L, Grarup N, Müller-Nurasyid M, Boutin T, Verweij N, Lin HJ, Li-Gao R, van den Berg ME, Marten J, Weiss S, Prins BP, Haessler J, Lyytikäinen LP, Mei H, Harris TB, Launer LJ, Li M, Alonso A, Soliman EZ, Connell JM, Huang PL, Weng LC, Jameson HS, Hucker W, Hanley A, Tucker NR, Chen YI, Bis JC, Rice KM, Sitlani CM, Kors JA, Xie Z, Wen C, Magnani JW, Nelson CP, Kanters JK, Sinner MF, Strauch K, Peters A, Waldenberger M, Meitinger T, Bork-Jensen J, Pedersen O, Linneberg A, Rudan I, de Boer RA, van der Meer P, Yao J, Guo X, Taylor KD, Sotoodehnia N, Rotter JI, Mook-Kanamori DO, Trompet S, Rivadeneira F, Uitterlinden A, Eijgelsheim M, Padmanabhan S, Smith BH, Völzke H, Felix SB, Homuth G, Völker U, Mangino M, Spector TD, Bots ML, Perez M, Kähönen M, Raitakari OT, Gudnason V, Arking DE, Munroe PB, Psaty BM, van Duijn CM, Benjamin EJ, Rosand J, Samani NJ, Hansen T, Kääb S, Polasek O, van der Harst P, Heckbert SR, Jukema JW, Stricker BH, Hayward C, Dörr M, Jamshidi Y, Asselbergs FW, Kooperberg C, Lehtimäki T, Wilson JG, Ellinor PT, Lubitz SA, Isaacs A.

Circ Genom Precis Med. 2018 May;11(5):e002037. doi: 10.1161/CIRCGEN.117.002037.

PMID:
29748316
19.

A common co-morbidity modulates disease expression and treatment efficacy in inherited cardiac sodium channelopathy.

Rivaud MR, Jansen JA, Postema PG, Nannenberg EA, Mizusawa Y, van der Nagel R, Wolswinkel R, van der Made I, Marchal GA, Rajamani S, Belardinelli L, van Tintelen JP, Tanck MWT, van der Wal AC, de Bakker JMT, van Rijen HV, Creemers EE, Wilde AAM, van den Berg MP, van Veen TAB, Bezzina CR, Remme CA.

Eur Heart J. 2018 Aug 14;39(31):2898-2907. doi: 10.1093/eurheartj/ehy247.

PMID:
29718149
20.

SCN5A mutation type and topology are associated with the risk of ventricular arrhythmia by sodium channel blockers.

Amin AS, Reckman YJ, Arbelo E, Spanjaart AM, Postema PG, Tadros R, Tanck MW, Van den Berg MP, Wilde AAM, Tan HL.

Int J Cardiol. 2018 Sep 1;266:128-132. doi: 10.1016/j.ijcard.2017.09.010. Epub 2018 Apr 30.

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