دانلود مقالات ISI درباره Mybpc3 + ترجمه فارسی

تعیین پیشبینی پیشگویی ژنتیکی مبتنی بر فنوتیپ برای بیماران غیر مرتبط با کاردیومیوپاتی هیپرتروفی

Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

Keywords: AUC; area under the curve; DHPLC; denaturing high-performance liquid chromatography; Dx; diagnosis; HCM; hypertrophic cardiomyopathy; Hx; history; ICD; implantable cardioverter defibrillator; LVOT; left ventricular outflow tract; MLVWT; maximum left ventr

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2014 سفارش ترجمه

Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series

Keywords: Sudden death; Hypertrophic cardiomyopathy; MYBPC3; Truncating variants;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2018 سفارش ترجمه

Evaluation of a polymorphism in MYBPC3 in patients with anthracycline induced cardiotoxicity

Keywords: MYBPC3; Polymorphism; Anthracycline; Cardiotoxcity;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy

Keywords: Gene sequencing; Hypertrophic cardiomyopathy; MYBPC3; Mutation;

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2018 سفارش ترجمه

Significance of intronic and synonymous MYBPC3 gene variations in hypertrophic cardiomyopathy

Keywords: MYBPC3; Myosin binding protein-C3; SNP; Single nucleotide polymorphism; HCM; Hypertrophic cardiomyopathy; Compound heterozygosity; Myosin binding protein-C3; Single nucleotide polymorphism; Synonymous variation; Hypertrophic cardiomyopathy;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt

Keywords: NGS; next generation sequencing; HCM; hypertrophic cardiomyopathy; MYBPC3; myosin binding protein C; MYH7; myosin heavy chain 7; TNNT2; cardiac troponin T2; MYF; Magdi Yacoub Heart Foundation; BA; bibliotheca alexandrina; Genetics; Hypertrophic cardiomyop

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice

Keywords: cMyBP-C; Cardiac myosin binding protein-C (referring to the polypeptide); cTnI; Cardiac troponin I; E/A; Early/Atrial diastolic blood filling velocities; E′/A′; Early/Atrial diastolic tissue motion velocities; EF; Ejection fraction; HCM; Hypertrophic

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2015 سفارش ترجمه

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

Keywords: 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 pr

دانلود رایگان متن کامل مقاله ISI 41 صفحه سال انتشار : 2015 سفارش ترجمه

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

Keywords: MYBPC3; Cardiomyopathy; Left ventricular noncompaction; NGS; Molecular diagnosis

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy

Keywords: bp; base pair; DNA; deoxyribonucleic acid; dNTP; deoxynucleotide; EDTA; ethylenediaminetetraacetic acid; HCM; hypertrophic cardiomyopathy; Hg; mercury; LMM; light meromyosin domain; LV; left ventricle; LVEDD; left ventricular end-diastolic diameter; MYB

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations

Keywords: MicroRNA; Profiling; Heart; Hypertrophic cardiomyopathy; MYBPC3; TRPM3;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy

Keywords: Hypertrophic cardiomyopathy; MYBPC3; Gene rearrangement; Molecular diagnosis; MLPA;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Hypertrophic cardiomyopathy in the Amish community — What we may learn from it

Keywords: MYBPC3; Homozygote; Heterozygous carrier; Medical home; Cardiac death

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder

Keywords: ADHD; attention-deficit/hyperactivity disorder; MTS; methylphenidate transdermal system; SNP; Single Nucleotide Polymorphism; FERM; Protein 4.1, Ezrin, Radixin, Moesin; bpm; beats per minute; bp; Base Paur; VNTR; Variable Number Tandem Repeat; DSM-IV-TR;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2011 سفارش ترجمه

Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy

Keywords: Familial hypertrophic cardiomyopathy; Genotype; Mutation; MYBPC3; Phenotype;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2010 سفارش ترجمه

Malignant and benign mutations in familial cardiomyopathies: Insights into mutations linked to complex cardiovascular phenotypes

Keywords: ACTA; α-skeletal actin gene; ACTC; cardiac actin gene; ACTN2; α-actinin 2; ANKRD1; ankyrin repeat protein gene; βMHC; beta myosin heavy chain; CSRP3; muscle LIM protein gene; DCM; dilated cardiomyopathy; FHC; familial hypertrophic cardiomyopathy; HCM;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2010 سفارش ترجمه

Yield of Genetic Testing in Hypertrophic Cardiomyopathy

Keywords: DHPLC; denaturing high-performance liquid chromatography; HCM; hypertrophic cardiomyopathy; ICD; implantable cardioverter-defibrillator; LVWT; left ventricular wall thickness; MYBPC3; myosin binding protein C; MYH7; myosin heavy chain; SCD; sudden cardiac

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2005 سفارش ترجمه

Sarcomeric Genotyping in Hypertrophic Cardiomyopathy

Keywords: ACTC; actin; HCM; hypertrophic cardiomyopathy; LVWT; left ventricular wall thickness; MYBPC3; myosin binding protein C; MYH7; myosin heavy chain; MYL2; regulatory myosin light chain; MYL3; essential myosin light chain; TNNI3; troponin I; TNNT2; troponin T

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2005 سفارش ترجمه