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- Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum.
- Bogarapu S1, Bleyl SB, Calhoun A, Viskochil D, Saarel EV, Everitt MD, Frank DU.Author information 1Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.AbstractThe important roles that T-box genes play in the morphogenesis of the heart and its conduction system has long been established, and a number of disorders are linked to mutations in these T-box genes. Holt-Oram syndrome (HOS), the classic heart and hand syndrome, is clinically typified by radial ray upper limb abnormalities and cardiac malformations, and is caused by mutations involving TBX5. Another member of the T-box gene family, TBX3, is found in close proximity to TBX5 on chromosome 12q24. Mutations in TBX3 cause ulnar-mammary syndrome (UMS), which is distinguished by upper limb malformations affecting the ulnar ray, apocrine, and mammary gland hypoplasia, and genital defects. While disorders involving isolated mutations of TBX5 and TBX3 have been well described, contiguous deletions of these T-box genes remain exceptional. We report on a patient with features of both HOS and UMS consisting of bilateral symmetric limb malformations, congenital cardiac defects, and rapidly progressive cardiac conduction disease. © 2014 Wiley Periodicals, Inc.
- American journal of medical genetics. Part A.Am J Med Genet A.2014 May;164(5):1304-9. doi: 10.1002/ajmg.a.36447. Epub 2014 Mar 24.
- The important roles that T-box genes play in the morphogenesis of the heart and its conduction system has long been established, and a number of disorders are linked to mutations in these T-box genes. Holt-Oram syndrome (HOS), the classic heart and hand syndrome, is clinically typified by radial ray
- PMID 24664963
- Visual or computer-based measurements: important for interpretation of athletes' ECG.
- Berge HM1, Steine K, Andersen TE, Solberg EE, Gjesdal K.Author information 1Oslo Sports Trauma Research Center, The Norwegian School of Sport Sciences, , Oslo, Norway.AbstractBACKGROUND: ECG is recommended for preparticipation health examination in athletes. Owing to a lack of consensus on how to read and interpret athletes' ECGs, different criteria for abnormality are used.
- British journal of sports medicine.Br J Sports Med.2014 May;48(9):761-7. doi: 10.1136/bjsports-2014-093412. Epub 2014 Feb 21.
- BACKGROUND: ECG is recommended for preparticipation health examination in athletes. Owing to a lack of consensus on how to read and interpret athletes' ECGs, different criteria for abnormality are used.AIMS: To compare the prevalence of abnormal ECGs and test the correlation between visual and compu
- PMID 24563390
- 細胞と組織階層を繋ぐ新たな心臓興奮伝導機構 : Electric Field機構 (解説特集 多階層生体機能学の創成に向けたシミュレーション研究の成果と進展)
- 津元 国親,倉智 嘉久
- 生体医工学 = Transactions of Japanese Society for Medical and Biological Engineering : 日本エム・イー学会誌 53(3), 138-143, 2015-06
- NAID 40020563903
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- 石川 泰輔,蒔田 直昌
- 循環器内科 77(4), 360-365, 2015-04
- NAID 40020456002
- FPGAを用いた心臓興奮伝導シミュレータ (非線形問題)
- 多田 潤矢,北島 博之
- 電子情報通信学会技術研究報告 = IEICE technical report : 信学技報 114(484), 69-72, 2015-03-03
- NAID 40020431487
- Have you ever wondered what causes your heart to beat? Learn about the four steps of cardiac conduction, the rate at which the heart conducts electrical impulses. ... Cardiac Conduction Have you ever wondered what ...
- Overview The cardiac conduction system is a group of specialized cardiac muscle cells in the walls of the heart that send signals to the heart muscle causing it to contract. The main components of the cardiac conduction ...