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Year Number of Results
1989 1
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1997 3
1998 1
2000 2
2001 2
2002 3
2003 5
2004 1
2005 3
2006 1
2007 5
2008 5
2009 12
2010 10
2011 5
2012 11
2013 13
2014 8
2015 9
2016 5
2017 10
2018 6
2019 7
2020 3
2021 3
2022 4
2023 12
2024 5

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137 results

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Page 1
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Among authors: dooijes d. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Bourfiss M, van Vugt M, Alasiri AI, Ruijsink B, van Setten J, Schmidt AF, Dooijes D, Puyol-Antón E, Velthuis BK, van Tintelen JP, Te Riele ASJM, Baas AF, Asselbergs FW. Bourfiss M, et al. Among authors: dooijes d. Circ Genom Precis Med. 2022 Dec;15(6):e003704. doi: 10.1161/CIRCGEN.122.003704. Epub 2022 Oct 20. Circ Genom Precis Med. 2022. PMID: 36264615 Free PMC article.
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. van Waning JI, et al. Among authors: dooijes d. J Am Coll Cardiol. 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019. J Am Coll Cardiol. 2018. PMID: 29447731 Free article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC 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 Free PMC article.
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. Groeneweg JA, et al. Among authors: dooijes d. Circ Cardiovasc Genet. 2015 Jun;8(3):437-46. doi: 10.1161/CIRCGENETICS.114.001003. Epub 2015 Mar 27. Circ Cardiovasc Genet. 2015. PMID: 25820315
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 novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.
Carrick RT, Gasperetti A, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Dooijes D, Syrris P, Cannie D, Tichnell C, Gilotra NA, Cappelletto C, Medo K, Saguner AM, Duru F, Hylind RJ, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Compagnucci P, Casella M, Conte G, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Schulze-Bahr E, Dittman S, Carruth ED, Young K, Qureshi M, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott P, Calkins H, Wu KC, James CA. Carrick RT, et al. Among authors: dooijes d. Eur Heart J. 2024 Aug 21;45(32):2968-2979. doi: 10.1093/eurheartj/ehae409. Eur Heart J. 2024. PMID: 39011630 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.
137 results