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Elsevier电子期刊(88)

在“Elsevier电子期刊”中，命中：88条，耗时：小于0.01 秒

在所有数据库中总计命中：88条

1.Nueva mutación fundadora en MYBPC3: comparación fenotípica con la mutación de MYBPC3 más frecuente en España

作者：Marí ; a Sabater-Molina^a ; ^{mariasm79es@hotmail.com} ; Daniel Saura^b ; Esperanza Garcí ; a-Molina Sá ; ez^a ; Josefa Gonzá ; lez-Carrillo^b ; Luis Polo^c ; Inmaculada Pé ; rez-Sá ; nchez^a ; Marí ; a del Carmen Olmo^b ; Marí ; a José ; Oliva-Sandoval^b ; Roberto Barriales-Villa^d ; Pablo Carbonell^e ; Domigo Pascual-Figal^b ; Juan R. Gimeno^b

关键词：Miocardiopatía ; Hipertrofia ; Mutació ; n en MYBPC3 ; Muerte sú ; bita ; Proteí ; na truncada

刊名：Revista Española de Cardiología

出版年：2017

2.A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain

关键词：Cardiomyopathy ; Hypertrophy ; MYBPC3 mutation ; Sudden death ; Truncated protein

刊名：Revista Española de Cardiología (English Edition)

出版年：2017

3.A Long Term Follow-up Study of Carriers of Hypertrophic Cardiomyopathy Mutations

作者：Don R McTaggart ; MBBS ; FRACP ; FCSANZ^a ; ^{dmctaggart2@bigpond.com} ; Kathryn J Ogden ; MBBS ; FRACGP ; MPH^b ; Jessica A Marathe ; BMedSc ; MBBS^c

关键词：Hypertrophic cardiomyopathy ; Carriers ; Long-term follow-up ; Clinical genetics

刊名：Heart, Lung and Circulation

出版年：2017

4.MYBPC3 hypertrophic cardiomyopathy can be detected by using advanced ECG in children and young adults

作者：E. Fernlund ; MD ; PhD^a ; ^b ; ^{eva.fernlund@med.lu.se" class="auth_mail" title="E-mail the corresponding author} ; ^{eva.fernlund@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; P. Liuba ; MD ; PhD^a ; J. Carlson ; MSc^c ; P.G. Platonov ; MD ; PhD^c ; T.T. Schlegel ; MD^d ; ^e

关键词：Sudden cardiac death ; Spatial QRS-T angle ; Vectorcardiogram

刊名：Journal of Electrocardiology

出版年：2016

5.Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue

作者：Paul J.M. Wijnker^a ; ^b ; ^c ; Felix W. Friedrich^a ; ^b ; Alexander Dutsch^a ; ^b ; Silke Reischmann^a ; ^b ; Alexandra Eder^a ; ^b ; Ingra Mannhardt^a ; ^b ; Giulia Mearini^a ; ^b ; Thomas Eschenhagen^a ; ^b ; Jolanda van der Velden^c ; Lucie Carrier^a ; ^b ; ^{l.carrier@uke.de" class="auth_mail" title="E-mail the corresponding author}

关键词：Cardiac myosin-binding protein-C ; Engineered heart tissue ; Haploinsufficiency ; Hypertrophic cardiomyopathy ; Missense mutation ; Truncating mutation

刊名：Journal of Molecular and Cellular Cardiology

出版年：2016

6.Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes

作者：James W. McNamara^a ; ^{jmcn6970@uni.sydney.edu.au" class="auth_mail" title="E-mail the corresponding author} ; Amy Li^a ; Nicola J. Smith^b ; Sean Lal^a ; Robert M. Graham^b ; Kristina Bezold Kooiker^c ; ¹ ; Sabine J. van Dijk^d ; ¹ ; Cristobal G. dos Remedios^a ; Samantha P. Harris^d ; ¹ ; Roger Cooke^e

关键词：SRX ; super-relaxed state ; DRX ; disordered-relaxed state ; cMyBP-C ; cardiac myosin binding protein-C ; MYBPC3/Mybpc3 ; cardiac myosin binding protein-C gene in human/mouse ; HCM ; hypertrophic cardiomyopathy ; MOPS ; 3-(N-morpholino) propanesulfonic acid ; DTT ; dithiothreitol ; BDM ; 2 ; 3-butanedione monoxime ; mATP ; 2&prime ; -(or-3&prime ; )&ndash ; O&ndash ; (N-methylanthraniloyl) adenosine 5-triphosphate

刊名：Journal of Molecular and Cellular Cardiology

出版年：2016

7.Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology

作者：Lucie Carrier ; ^{l.carrier@uke.de" class="auth_mail" title="E-mail the corresponding author} ; Giulia Mearini ; Konstantina Stathopoulou ; Friederike Cuello

关键词：AAV ; adeno-associated virus ; AON ; antisense oligonucleotide ; bp ; base pair ; Ca2+ ; ; calcium ; CaMKII ; Ca2+/calmodulin-dependent kinase II ; Chr ; chromosome ; CK2 ; casein kinase 2 ; CMH4 ; hypertrophic cardiomyopathy ; locus 4 ; cMyBP-C ; cardiac myosin-binding protein C ; CRISPR ; clustered regularly interspaced short palindromic repeats ; DCM ; dilated cardiomyopathy ; EHT ; engineered heart tissue ; GSK3尾 ; glycogen-synthase kinase isoform 3尾 ; HCM ; hypertrophic cardiomyopathy ; iPSC ; induced-pluripotent st

刊名：Gene

出版年：2015

8.Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes

作者：Andre Monteiro da Rocha ; DVM PhD^a ; ^b ; Guadalupe Guerrero-Serna ; PhD^a ; Adam Helms ; MD^a ; Carly Luzod^a ; Sergey Mironov ; PhD^a ; Mark Russell ; MD^c ; José ; Jalife ; MD^a ; Sharlene M. Day ; MD^a ; Gary D. Smith ; PhD^b ; ^{smithgd@umich.edu" class="auth_mail" title="E-mail the corresponding author} ; Todd J. Herron ; PhD^a ; ^{toddherr@umich.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Cardiomyopathy ; Hypertrophy ; Stem cells ; Cardiac differentiation ; Optical mapping ; Stem cell derived cardiomyocytes

刊名：Journal of Molecular and Cellular Cardiology

出版年：2016

9.Luces y sombras en el diagnóstico genético de la miocardiopatía hipertrófica

作者：Juan Gó ; mez^a ; Juliá ; n R. Reguero^b ; Eliecer Coto^a ; ^c ; ^{eliecer.coto@sespa.es" class="auth_mail" title="E-mail the corresponding author}

关键词：Miocardiopatí ; a hipertró ; fica ; Secuenciació ; n masiva ; Variantes de significado incierto ; Filamina C

刊名：Revista Española de Cardiología

出版年：2016

10.The Ups and Downs of Genetic Diagnosis of Hypertrophic Cardiomyopathy

作者：Juan Gó ; mez^a ; Juliá ; n R. Reguero^b ; Eliecer Coto^a ; ^c ; ^{eliecer.coto@sespa.es" class="auth_mail" title="E-mail the corresponding author}

关键词：Hypertrophic cardiomyopathy ; Massive sequencing ; Variant of uncertain significance ; Filamin C

刊名：Revista Española de Cardiología (English Edition)

出版年：2016

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