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133 results

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Page 1
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Niskanen JE, Ohlsson Å, Ljungvall I, Drögemüller M, Ernst RF, Dooijes D, van Deutekom HWM, van Tintelen JP, Snijders Blok CJB, van Vugt M, van Setten J, Asselbergs FW, Petrič AD, Salonen M, Hundi S, Hörtenhuber M; DoGA consortium; Kere J, Pyle WG, Donner J, Postma AV, Leeb T, Andersson G, Hytönen MK, Häggström J, Wiberg M, Friederich J, Eberhard J, Harakalova M, van Steenbeek FG, Wess G, Lohi H. Niskanen JE, et al. Among authors: dooijes d. Genome Med. 2023 Sep 18;15(1):73. doi: 10.1186/s13073-023-01221-3. Genome Med. 2023. PMID: 37723491 Free PMC article.
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Nagyova E, Hoorntje ET, Te Rijdt WP, Bosman LP, Syrris P, Protonotarios A, Elliott PM, Tsatsopoulou A, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Wada Y, Horie M, Mogensen J, Christensen AH, Gerull B, Song L, Yao Y, Fan S, Saguner AM, Duru F, Koskenvuo JW, Cruz Marino T, Tichnell C, Judge DP, Dooijes D, Lekanne Deprez RH, Basso C, Pilichou K, Bauce B, Wilde AAM, Charron P, Fressart V, van der Heijden JF, van den Berg MP, Asselbergs FW, James CA, Jongbloed JDH, Harakalova M, van Tintelen JP. Nagyova E, et al. Among authors: dooijes d. J Cardiovasc Transl Res. 2023 Dec;16(6):1276-1286. doi: 10.1007/s12265-023-10403-8. Epub 2023 Jul 7. J Cardiovasc Transl Res. 2023. PMID: 37418234 Free PMC article.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: dooijes d. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis.
Tazelaar GHP, Hop PJ, Seelen M, van Vugt JJFA, van Rheenen W, Kool L, van Eijk KR, Gijzen M, Dooijes D, Moisse M, Calvo A, Moglia C, Brunetti M, Canosa A, Nordin A, Pardina JSM, Ravits J, Al-Chalabi A, Chio A, McLaughlin RL, Hardiman O, Van Damme P, de Carvalho M, Neuwirth C, Weber M, Andersen PM, van den Berg LH, Veldink JH, van Es MA. Tazelaar GHP, et al. Among authors: dooijes d. Neurobiol Aging. 2023 Feb;122:76-87. doi: 10.1016/j.neurobiolaging.2022.11.010. Epub 2022 Nov 17. Neurobiol Aging. 2023. PMID: 36521271 Free article.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Among authors: dooijes d. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Verheul LM, van der Ree MH, Groeneveld SA, Mulder BA, Christiaans I, Kapel GFL, Alings M, Bootsma M, Barge-Schaapveld DQCM, Balt JC, Yap SC, Krapels IPC, Ter Bekke RMA, Volders PGA, van der Crabben SN, Postema PG, Wilde AAM, Dooijes D, Baas AF, Hassink RJ. Verheul LM, et al. Among authors: dooijes d. Europace. 2023 Nov 2;25(11):euad336. doi: 10.1093/europace/euad336. Europace. 2023. PMID: 37967257 Free PMC article.
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.
Jansen M, de Brouwer R, Hassanzada F, Schoemaker AE, Schmidt AF, Kooijman-Reumerman MD, Bracun V, Slieker MG, Dooijes D, Vermeer AMC, Wilde AAM, Amin AS, Lekanne Deprez RH, Herkert JC, Christiaans I, de Boer RA, Jongbloed JDH, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: dooijes d. JACC Heart Fail. 2024 Jan;12(1):134-147. doi: 10.1016/j.jchf.2023.07.007. Epub 2023 Aug 9. JACC Heart Fail. 2024. PMID: 37565978
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA, Piers SRD, Wessels MW, Houweling AC, Bökenkamp R, Bootsma M, Bosman LP, Evertz R, Hellebrekers DMEI, Hoedemaekers YM, Knijnenburg J, Lekanne Deprez R, van Mil AM, Te Riele ASJM, van Slegtenhorst MA, Wilde AAM, Yap SC, Dooijes D, Koopmann TT, van Tintelen JP, Barge-Schaapveld DQCM; European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart. Bos TA, et al. Among authors: dooijes d. Neth Heart J. 2023 Aug;31(7-8):315-323. doi: 10.1007/s12471-023-01791-2. Epub 2023 Jul 28. Neth Heart J. 2023. PMID: 37505369 Free PMC article.
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers.
Jansen M, Schmidt AF, Jans JJM, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Lekanne Deprez RH, Wilde AAM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: dooijes d. J Cardiovasc Transl Res. 2023 Dec;16(6):1267-1275. doi: 10.1007/s12265-023-10398-2. Epub 2023 Jun 6. J Cardiovasc Transl Res. 2023. PMID: 37278928 Free PMC article.
133 results