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Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Kühnisch J, Theisen S, Dartsch J, Fritsche-Guenther R, Kirchner M, Obermayer B, Bauer A, Kahlert AK, Rothe M, Beule D, Heuser A, Mertins P, Kirwan JA, Berndt N, MacRae CA, Hubner N, Klaassen S. Kühnisch J, et al. Among authors: macrae ca. Cardiovasc Res. 2024 Feb 17;119(18):2902-2916. doi: 10.1093/cvr/cvad154. Cardiovasc Res. 2024. PMID: 37842925 Free PMC article.
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S. Arndt AK, et al. Among authors: macrae ca. Am J Hum Genet. 2013 Jul 11;93(1):67-77. doi: 10.1016/j.ajhg.2013.05.015. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768516 Free PMC article.
Reponse to De Leeuw and Houge.
Arndt AK, Macrae CA, Klaassen S. Arndt AK, et al. Among authors: macrae ca. Am J Hum Genet. 2014 Jan 2;94(1):154-5. doi: 10.1016/j.ajhg.2013.11.011. Am J Hum Genet. 2014. PMID: 24387996 Free PMC article. No abstract available.
RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, Maatz H, Schulz H, Li S, Parrish AM, Dauksaite V, Vakeel P, Klaassen S, Gerull B, Thierfelder L, Regitz-Zagrosek V, Hacker TA, Saupe KW, Dec GW, Ellinor PT, MacRae CA, Spallek B, Fischer R, Perrot A, Özcelik C, Saar K, Hubner N, Gotthardt M. Guo W, et al. Among authors: macrae ca. Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693. Nat Med. 2012. PMID: 22466703 Free PMC article.
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
Valente AM, Lakdawala NK, Powell AJ, Evans SP, Cirino AL, Orav EJ, MacRae CA, Colan SD, Ho CY. Valente AM, et al. Among authors: macrae ca. Circ Cardiovasc Genet. 2013 Jun;6(3):230-7. doi: 10.1161/CIRCGENETICS.113.000037. Epub 2013 May 20. Circ Cardiovasc Genet. 2013. PMID: 23690394 Free PMC article.
Clinically relevant functional annotation of genotype.
MacRae CA, Vasan RS. MacRae CA, et al. Circ Cardiovasc Genet. 2014 Feb;7(1):2-3. doi: 10.1161/CIRCGENETICS.114.000506. Circ Cardiovasc Genet. 2014. PMID: 24550428 Free PMC article. No abstract available.
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
Hayashi K, Teramoto R, Nomura A, Asano Y, Beerens M, Kurata Y, Kobayashi I, Fujino N, Furusho H, Sakata K, Onoue K, Chiang DY, Kiviniemi TO, Buys E, Sips P, Burch ML, Zhao Y, Kelly AE, Namura M, Kita Y, Tsuchiya T, Kaku B, Oe K, Takeda Y, Konno T, Inoue M, Fujita T, Kato T, Funada A, Tada H, Hodatsu A, Nakanishi C, Sakamoto Y, Tsuda T, Nagata Y, Tanaka Y, Okada H, Usuda K, Cui S, Saito Y, MacRae CA, Takashima S, Yamagishi M, Kawashiri MA, Takamura M. Hayashi K, et al. Among authors: macrae ca. Cardiovasc Res. 2020 Nov 1;116(13):2116-2130. doi: 10.1093/cvr/cvaa010. Cardiovasc Res. 2020. PMID: 31977013 Free PMC article.
358 results