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Page 1
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: mulder b. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Low J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF; UK10K Consortium; Wilson DI, Mital S, Hurles ME. Al Turki S, et al. Among authors: mulder b. Am J Hum Genet. 2014 Apr 3;94(4):574-85. doi: 10.1016/j.ajhg.2014.03.007. Am J Hum Genet. 2014. PMID: 24702954 Free PMC article.
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR; UK10K Consortium; Wilson DI, Mital S, Hurles ME. Al Turki S, et al. Among authors: mulder b. Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863274 Free PMC article. No abstract available.
2020 ESC Guidelines for the management of adult congenital heart disease.
Baumgartner H, De Backer J, Babu-Narayan SV, Budts W, Chessa M, Diller GP, Lung B, Kluin J, Lang IM, Meijboom F, Moons P, Mulder BJM, Oechslin E, Roos-Hesselink JW, Schwerzmann M, Sondergaard L, Zeppenfeld K; ESC Scientific Document Group. Baumgartner H, et al. Among authors: mulder bjm. Eur Heart J. 2021 Feb 11;42(6):563-645. doi: 10.1093/eurheartj/ehaa554. Eur Heart J. 2021. PMID: 32860028 No abstract available.
Cerebrovascular accidents in adult patients with congenital heart disease.
Hoffmann A, Chockalingam P, Balint OH, Dadashev A, Dimopoulos K, Engel R, Schmid M, Schwerzmann M, Gatzoulis MA, Mulder B, Oechslin E. Hoffmann A, et al. Among authors: mulder b. Heart. 2010 Aug;96(15):1223-6. doi: 10.1136/hrt.2010.196147. Heart. 2010. PMID: 20639238
Past and current cause-specific mortality in Eisenmenger syndrome.
Hjortshøj CMS, Kempny A, Jensen AS, Sørensen K, Nagy E, Dellborg M, Johansson B, Rudiene V, Hong G, Opotowsky AR, Budts W, Mulder BJ, Tomkiewicz-Pajak L, D'Alto M, Prokšelj K, Diller GP, Dimopoulos K, Estensen ME, Holmstrøm H, Turanlahti M, Thilén U, Gatzoulis MA, Søndergaard L. Hjortshøj CMS, et al. Among authors: mulder bj. Eur Heart J. 2017 Jul 7;38(26):2060-2067. doi: 10.1093/eurheartj/ehx201. Eur Heart J. 2017. PMID: 28430906 Free article.
European Society of Cardiology: Cardiovascular Disease Statistics 2019.
Timmis A, Townsend N, Gale CP, Torbica A, Lettino M, Petersen SE, Mossialos EA, Maggioni AP, Kazakiewicz D, May HT, De Smedt D, Flather M, Zuhlke L, Beltrame JF, Huculeci R, Tavazzi L, Hindricks G, Bax J, Casadei B, Achenbach S, Wright L, Vardas P; European Society of Cardiology. Timmis A, et al. Eur Heart J. 2020 Jan 1;41(1):12-85. doi: 10.1093/eurheartj/ehz859. Eur Heart J. 2020. PMID: 31820000 Free article.
Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome: A Multicenter Study.
Kempny A, Hjortshøj CS, Gu H, Li W, Opotowsky AR, Landzberg MJ, Jensen AS, Søndergaard L, Estensen ME, Thilén U, Budts W, Mulder BJ, Blok I, Tomkiewicz-Pająk L, Szostek K, D'Alto M, Scognamiglio G, Prokšelj K, Diller GP, Dimopoulos K, Wort SJ, Gatzoulis MA. Kempny A, et al. Circulation. 2017 Apr 11;135(15):1432-1440. doi: 10.1161/CIRCULATIONAHA.116.023033. Epub 2016 Dec 15. Circulation. 2017. PMID: 27979875 Free article.
795 results