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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: van waning ji. 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.
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. 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.
Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
van Waning JI, Caliskan K, Michels M, Schinkel AFL, Hirsch A, Dalinghaus M, Hoedemaekers YM, Wessels MW, IJpma AS, Hofstra RMW, van Slegtenhorst MA, Majoor-Krakauer D. van Waning JI, et al. J Am Coll Cardiol. 2019 Apr 9;73(13):1601-1611. doi: 10.1016/j.jacc.2018.12.085. J Am Coll Cardiol. 2019. PMID: 30947911 Free article.
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.
van der Linde IHM, Hiemstra YL, Bökenkamp R, van Mil AM, Breuning MH, Ruivenkamp C, Ten Broeke SW, Veldkamp RF, van Waning JI, van Slegtenhorst MA, van Spaendonck-Zwarts KY, Lekanne Deprez RH, Herkert JC, Boven L, van der Zwaag PA, Jongbloed JDH, Bootsma M, Barge-Schaapveld DQCM. van der Linde IHM, et al. Among authors: van waning ji. Neth Heart J. 2017 Dec;25(12):675-681. doi: 10.1007/s12471-017-1037-5. Epub 2017 Sep 1. Neth Heart J. 2017. PMID: 28864942 Free PMC article.
State-of-the art review: Noncompaction cardiomyopathy in pediatric patients.
Rohde S, Muslem R, Kaya E, Dalinghaus M, van Waning JI, Majoor-Krakauer D, Towbin J, Caliskan K. Rohde S, et al. Among authors: van waning ji. Heart Fail Rev. 2022 Jan;27(1):15-28. doi: 10.1007/s10741-021-10089-7. Epub 2021 Mar 14. Heart Fail Rev. 2022. PMID: 33715140 Free PMC article. Review.
Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction.
Stöllberger C, Wegner C, Benatar A, Chin TK, Dangel J, Majoor-Krakauer D, Mondal TK, Sivanandam S, Silverman NH, van Waning J, Finsterer J. Stöllberger C, et al. Pediatr Cardiol. 2016 Jun;37(5):919-24. doi: 10.1007/s00246-016-1369-8. Epub 2016 Mar 31. Pediatr Cardiol. 2016. PMID: 27033242
Reply: Different Outcomes and Additional Gene Testing.
van Waning JI, Majoor-Krakauer D. van Waning JI, et al. J Am Coll Cardiol. 2018 Jun 19;71(24):2865-2866. doi: 10.1016/j.jacc.2018.04.010. J Am Coll Cardiol. 2018. PMID: 29903362 Free article. No abstract available.
11 results