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Items: 1 to 50 of 109

1.

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

van Lint FHM, Murray B, Tichnell C, Zwart R, Amat N, Lekanne Deprez RH, Dittmann S, Stallmeyer B, Calkins H, van der Smagt JJ, van den Wijngaard A, Dooijes D, van der Zwaag PA, Schulze-Bahr E, Judge DP, Jongbloed JDH, van Tintelen JP, James CA.

Circ Genom Precis Med. 2019 Aug;12(8):e002467. doi: 10.1161/CIRCGEN.119.002467. Epub 2019 Aug 6.

PMID:
31386562
2.

UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking.

Sammani A, Jansen M, Linschoten M, Bagheri A, de Jonge N, Kirkels H, van Laake LW, Vink A, van Tintelen JP, Dooijes D, Te Riele ASJM, Harakalova M, Baas AF, Asselbergs FW.

Neth Heart J. 2019 Sep;27(9):426-434. doi: 10.1007/s12471-019-1288-4.

3.

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Jansen M, Baas AF, van Spaendonck-Zwarts KY, Ummels AS, van den Wijngaard A, Jongbloed JDH, van Slegtenhorst MA, Lekanne Deprez RH, Wessels MW, Michels M, Houweling AC, Hoorntje ET, Helderman-van den Enden PJTM, Barge-Schaapveld DQCM, Peter van Tintelen J, van den Berg MP, Wilde AAM, Ploos van Amstel HK, Hennekam EAM, Asselbergs FW, Sijbrands EJG, Dooijes D.

Circ Genom Precis Med. 2019 May;12(5):e002436. doi: 10.1161/CIRCGEN.118.002436.

PMID:
31112426
4.

Evaluation of gene panels for inherited cardiac disease-is less more?

Dooijes D, Siemelink M, Baas AF.

Neth Heart J. 2019 Jun;27(6):297-298. doi: 10.1007/s12471-019-1279-5. No abstract available.

5.

The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM.

Piroddi N, Witjas-Paalberends ER, Ferrara C, Ferrantini C, Vitale G, Scellini B, Wijnker PJM, Sequiera V, Dooijes D, Dos Remedios C, Schlossarek S, Leung MC, Messer A, Ward DG, Biggeri A, Tesi C, Carrier L, Redwood CS, Marston SB, van der Velden J, Poggesi C.

J Gen Physiol. 2019 Jan 7;151(1):18-29. doi: 10.1085/jgp.201812160. Epub 2018 Dec 21.

6.

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.

JIMD Rep. 2019;45:99-104. doi: 10.1007/8904_2018_148. Epub 2018 Dec 20.

7.

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.

8.

Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).

Murray B, Hoorntje ET, Te Riele ASJM, Tichnell C, van der Heijden JF, Tandri H, van den Berg MP, Jongbloed JDH, Wilde AAM, Hauer RNW, Calkins H, Judge DP, James CA, van Tintelen JP, Dooijes D.

J Cardiovasc Electrophysiol. 2018 Jul;29(7):1004-1009. doi: 10.1111/jce.13621. Epub 2018 May 21.

9.

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.

van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D.

J Am Coll Cardiol. 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019.

10.

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS.

Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251.

PMID:
29053796
11.

Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy.

Te Rijdt WP, van der Klooster ZJ, Hoorntje ET, Jongbloed JDH, van der Zwaag PA, Asselbergs FW, Dooijes D, de Boer RA, van Tintelen JP, van den Berg MP, Vink A, Suurmeijer AJH.

Cardiovasc Pathol. 2017 Sep - Oct;30:23-26. doi: 10.1016/j.carpath.2017.05.004. Epub 2017 May 30.

12.

Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies.

Sepehrkhouy S, Gho JMIH, van Es R, Harakalova M, de Jonge N, Dooijes D, van der Smagt JJ, Buijsrogge MP, Hauer RNW, Goldschmeding R, de Weger RA, Asselbergs FW, Vink A.

Heart Rhythm. 2017 Jul;14(7):1024-1032. doi: 10.1016/j.hrthm.2017.03.034. Epub 2017 Mar 30.

PMID:
28365402
13.

Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy.

Linschoten M, Teske AJ, Baas AF, Vink A, Dooijes D, Baars HF, Asselbergs FW.

J Card Fail. 2017 Jun;23(6):476-479. doi: 10.1016/j.cardfail.2017.03.003. Epub 2017 Mar 14.

14.

Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation.

Bhonsale A, Te Riele ASJM, Sawant AC, Groeneweg JA, James CA, Murray B, Tichnell C, Mast TP, van der Pols MJ, Cramer MJM, Dooijes D, van der Heijden JF, Tandri H, van Tintelen JP, Judge DP, Hauer RNW, Calkins H.

Heart Rhythm. 2017 Jun;14(6):883-891. doi: 10.1016/j.hrthm.2017.02.013. Epub 2017 Feb 12.

15.

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4.

Wadman RI, Stam M, Gijzen M, Lemmink HH, Snoeck IN, Wijngaarde CA, Braun KP, Schoenmakers MA, van den Berg LH, Dooijes D, van der Pol WL.

J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):365-367. doi: 10.1136/jnnp-2016-314292. Epub 2017 Jan 20. No abstract available.

PMID:
28108522
16.

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers IC, Dooijes D, Vonken EP, van der Smagt JJ, Knoers NV, Koenen SV, van Herwaarden JA, Sieswerda GT.

Am J Med Genet A. 2017 Feb;173(2):519-523. doi: 10.1002/ajmg.a.38033. Epub 2016 Nov 7.

PMID:
28102592
17.

Evaluation of Structural Progression in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.

Mast TP, James CA, Calkins H, Teske AJ, Tichnell C, Murray B, Loh P, Russell SD, Velthuis BK, Judge DP, Dooijes D, Tedford RJ, van der Heijden JF, Tandri H, Hauer RN, Abraham TP, Doevendans PA, Te Riele AS, Cramer MJ.

JAMA Cardiol. 2017 Mar 1;2(3):293-302. doi: 10.1001/jamacardio.2016.5034.

PMID:
28097316
18.

Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation.

Visser M, Dooijes D, van der Smagt JJ, van der Heijden JF, Doevendans PA, Loh P, Asselbergs FW, Hassink RJ.

Heart Rhythm. 2017 Jul;14(7):1035-1040. doi: 10.1016/j.hrthm.2017.01.010. Epub 2017 Jan 11.

PMID:
28087426
19.

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.

Te Riele AS, Agullo-Pascual E, James CA, Leo-Macias A, Cerrone M, Zhang M, Lin X, Lin B, Sobreira NL, Amat-Alarcon N, Marsman RF, Murray B, Tichnell C, van der Heijden JF, Dooijes D, van Veen TA, Tandri H, Fowler SJ, Hauer RN, Tomaselli G, van den Berg MP, Taylor MR, Brun F, Sinagra G, Wilde AA, Mestroni L, Bezzina CR, Calkins H, Peter van Tintelen J, Bu L, Delmar M, Judge DP.

Cardiovasc Res. 2017 Jan;113(1):102-111. doi: 10.1093/cvr/cvw234. Erratum in: Cardiovasc Res. 2017 May 1;113(6):691.

20.

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.

Wadman RI, Stam M, Jansen MD, van der Weegen Y, Wijngaarde CA, Harschnitz O, Sodaar P, Braun KP, Dooijes D, Lemmink HH, van den Berg LH, van der Pol WL.

PLoS One. 2016 Nov 28;11(11):e0167087. doi: 10.1371/journal.pone.0167087. eCollection 2016.

21.

Influence of Genotype on Structural Atrial Abnormalities and Atrial Fibrillation or Flutter in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.

Bourfiss M, Te Riele AS, Mast TP, Cramer MJ, VAN DER Heijden JF, VAN Veen TA, Loh P, Dooijes D, Hauer RN, Velthuis BK.

J Cardiovasc Electrophysiol. 2016 Dec;27(12):1420-1428. doi: 10.1111/jce.13094. Epub 2016 Oct 6.

PMID:
27572111
22.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population: Clinical Characterization and Comparison With Adult-Onset Disease.

Te Riele ASJM, James CA, Sawant AC, Bhonsale A, Groeneweg JA, Mast TP, Murray B, Tichnell C, Dooijes D, van Tintelen JP, Judge DP, van der Heijden JF, Crosson J, Hauer RNW, Calkins H, Tandri H.

JACC Clin Electrophysiol. 2015 Dec;1(6):551-560. doi: 10.1016/j.jacep.2015.08.004. Epub 2015 Oct 22.

23.

Prolonged Electromechanical Interval Unmasks Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Subclinical Stage.

Mast TP, Teske AJ, Te Riele AS, Groeneweg JA, Van Der Heijden JF, Velthuis BK, Loh P, Doevendans PA, Van Veen TA, Dooijes D, De Bakker JM, Hauer RN, Cramer MJ.

J Cardiovasc Electrophysiol. 2016 Mar;27(3):303-14. doi: 10.1111/jce.12882. Epub 2016 Jan 14.

PMID:
26585103
24.

Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

te Riele AS, James CA, Groeneweg JA, Sawant AC, Kammers K, Murray B, Tichnell C, van der Heijden JF, Judge DP, Dooijes D, van Tintelen JP, Hauer RN, Calkins H, Tandri H.

Eur Heart J. 2016 Mar 1;37(9):755-63. doi: 10.1093/eurheartj/ehv387. Epub 2015 Aug 27.

PMID:
26314686
25.

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF.

Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.

PMID:
25845371
26.

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H.

Circ Cardiovasc Genet. 2015 Jun;8(3):437-46. doi: 10.1161/CIRCGENETICS.114.001003. Epub 2015 Mar 27.

PMID:
25820315
27.

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS.

PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015.

28.

A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes.

Harakalova M, Kummeling G, Sammani A, Linschoten M, Baas AF, van der Smagt J, Doevendans PA, van Tintelen JP, Dooijes D, Mokry M, Asselbergs FW.

Eur J Heart Fail. 2015 May;17(5):484-93. doi: 10.1002/ejhf.255. Epub 2015 Mar 2.

29.

Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.

Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, Murray B, te Riele AS, van den Berg MP, Bikker H, Atsma DE, de Groot NM, Houweling AC, van der Heijden JF, Russell SD, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Calkins H, Hauer RN.

Eur Heart J. 2015 Apr 7;36(14):847-55. doi: 10.1093/eurheartj/ehu509. Epub 2015 Jan 23.

PMID:
25616645
30.

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, Michels M, de Coo IF, Hoedemaekers YM, Dooijes D.

Eur J Hum Genet. 2015 Jul;23(7):922-8. doi: 10.1038/ejhg.2014.211. Epub 2014 Oct 22.

31.

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Groeneweg JA, Ummels A, Mulder M, Bikker H, van der Smagt JJ, van Mil AM, Homfray T, Post JG, Elvan A, van der Heijden JF, Houweling AC, Jongbloed JD, Wilde AA, van Tintelen JP, Hauer RN, Dooijes D.

Heart Rhythm. 2014 Nov;11(11):2010-7. doi: 10.1016/j.hrthm.2014.07.041. Epub 2014 Jul 31.

PMID:
25087486
32.

Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management.

Groeneweg JA, van der Heijden JF, Dooijes D, van Veen TA, van Tintelen JP, Hauer RN.

Neth Heart J. 2014 Aug;22(7-8):316-25. doi: 10.1007/s12471-014-0563-7.

33.

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

van der Pol WL, Leijenaar JF, Spliet WG, Lavrijsen SW, Jansen NJ, Braun KP, Mulder M, Timmers-Raaijmakers B, Ratsma K, Dooijes D, van Haelst MM.

Mol Genet Genomic Med. 2014 Mar;2(2):134-7. doi: 10.1002/mgg3.52. Epub 2013 Dec 12.

34.

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.

van Dijk SJ, Boontje NM, Heymans MW, Ten Cate FJ, Michels M, Dos Remedios C, Dooijes D, van Slegtenhorst MA, van der Velden J, Stienen GJ.

Pflugers Arch. 2014 Aug;466(8):1619-33. doi: 10.1007/s00424-013-1391-0. Epub 2013 Nov 2.

PMID:
24186209
35.

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AA, Bezzina CR.

J Am Coll Cardiol. 2014 Jan 28;63(3):259-66. doi: 10.1016/j.jacc.2013.07.091. Epub 2013 Sep 25.

36.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.

Groeneweg JA, van der Zwaag PA, Olde Nordkamp LR, Bikker H, Jongbloed JD, Jongbloed R, Wiesfeld AC, Cox MG, van der Heijden JF, Atsma DE, de Boer K, Doevendans PA, Vink A, van Veen TA, Dooijes D, van den Berg MP, Wilde AA, van Tintelen JP, Hauer RN.

Am J Cardiol. 2013 Oct 15;112(8):1197-206. doi: 10.1016/j.amjcard.2013.06.017. Epub 2013 Jul 19.

PMID:
23871674
37.

A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.

van Gaalen J, Vermeer S, van Veluw M, van de Warrenburg BP, Dooijes D.

Mov Disord. 2013 Nov;28(13):1902-3. doi: 10.1002/mds.25572. Epub 2013 Jul 12. No abstract available.

PMID:
23853068
38.

Malignant arrhythmogenic right ventricular dysplasia/cardiomyopathy with a normal 12-lead electrocardiogram: a rare but underrecognized clinical entity.

te Riele AS, James CA, Bhonsale A, Groeneweg JA, Camm CF, Murray B, Tichnell C, van der Heijden JF, Dooijes D, Judge DP, Hauer RN, Tandri H, Calkins H.

Heart Rhythm. 2013 Oct;10(10):1484-91. doi: 10.1016/j.hrthm.2013.06.022. Epub 2013 Jun 29.

PMID:
23816439
39.

Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies.

van der Smagt JJ, Vink A, Kirkels JH, Nelen M, ter Heide H, Molenschot MM, Weger RA, Schellekens PA, Hoogendijk J, Dooijes D.

Clin Genet. 2014 Apr;85(4):381-5. doi: 10.1111/cge.12169. Epub 2013 May 13.

PMID:
23590293
40.

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.

Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MA, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels CE.

Clin Genet. 2014 Feb;85(2):194-7. doi: 10.1111/cge.12125. Epub 2013 Apr 5. No abstract available.

PMID:
23557072
41.

Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?

Groeneweg JA, van der Zwaag PA, Jongbloed JD, Cox MG, Vreeker A, de Boer RA, van der Heijden JF, van Veen TA, McKenna WJ, van Tintelen JP, Dooijes D, Hauer RN.

Heart Rhythm. 2013 Apr;10(4):548-59. doi: 10.1016/j.hrthm.2012.12.020. Epub 2012 Dec 25.

PMID:
23270881
42.

Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy.

Noorman M, Hakim S, Kessler E, Groeneweg JA, Cox MG, Asimaki A, van Rijen HV, van Stuijvenberg L, Chkourko H, van der Heyden MA, Vos MA, de Jonge N, van der Smagt JJ, Dooijes D, Vink A, de Weger RA, Varro A, de Bakker JM, Saffitz JE, Hund TJ, Mohler PJ, Delmar M, Hauer RN, van Veen TA.

Heart Rhythm. 2013 Mar;10(3):412-9. doi: 10.1016/j.hrthm.2012.11.018. Epub 2012 Nov 23.

43.

Genetic overlap between apparently sporadic motor neuron diseases.

van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

PLoS One. 2012;7(11):e48983. doi: 10.1371/journal.pone.0048983. Epub 2012 Nov 14.

44.

Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.

van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA.

Cardiology. 2012;123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7.

PMID:
23147395
45.

End stage of arrhythmogenic cardiomyopathy with severe involvement of the interventricular septum.

Noorman M, Groeneweg JA, Asimaki A, Rizzo S, Papegaaij M, van Stuijvenberg L, de Jonge N, Dooijes D, Basso C, Saffitz JE, van Veen TA, Vink A, Hauer RN.

Heart Rhythm. 2013 Feb;10(2):283-9. doi: 10.1016/j.hrthm.2012.10.029. Epub 2012 Oct 18.

PMID:
23085127
46.

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy.

Roberts JD, Herkert JC, Rutberg J, Nikkel SM, Wiesfeld AC, Dooijes D, Gow RM, van Tintelen JP, Gollob MH.

Clin Genet. 2013 May;83(5):452-6. doi: 10.1111/j.1399-0004.2012.01950.x. Epub 2012 Sep 10.

PMID:
22889254
47.

Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy.

Hoedemaekers YM, Cohen-Overbeek TE, Frohn-Mulder IM, Dooijes D, Majoor-Krakauer DF.

Ultrasound Obstet Gynecol. 2013 Mar;41(3):336-9. doi: 10.1002/uog.12279.

48.

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.

van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH.

Neurology. 2012 Aug 28;79(9):878-82. doi: 10.1212/WNL.0b013e3182661d14. Epub 2012 Jul 25.

PMID:
22843265
49.

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH.

Hum Mol Genet. 2012 Sep 1;21(17):3776-84. doi: 10.1093/hmg/dds199. Epub 2012 May 29.

PMID:
22645277
50.

The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.

Kolder IC, Michels M, Christiaans I, Ten Cate FJ, Majoor-Krakauer D, Danser AH, Lekanne Deprez RH, Tanck M, Wilde AA, Bezzina CR, Dooijes D.

Eur J Hum Genet. 2012 Oct;20(10):1071-7. doi: 10.1038/ejhg.2012.48. Epub 2012 May 9.

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