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The pathogenesis of familial hypertrophic cardiomyopathy: Early and evolving effects from an α-cardiac myosin heavy chain missense mutation.
- Published in:
- Nature Medicine, 1999, v. 5, n. 3, p. 327, doi. 10.1038/6549
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- Publication type:
- Article
Multi-Omics Profiling of Hypertrophic Cardiomyopathy Reveals Altered Mechanisms in Mitochondrial Dynamics and Excitation–Contraction Coupling.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4724, doi. 10.3390/ijms24054724
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- Publication type:
- Article
The imperative to invest in science has never been greater.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 9, p. 3680, doi. 10.1172/JCI77894
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- Publication type:
- Article
A common genetic variant within SCN10A modulates cardiac SCN5A expression.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 4, p. 1844, doi. 10.1172/JCI73140
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- Publication type:
- Article
5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1364, doi. 10.1172/JCI70108
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- Publication type:
- Article
A conversation with Christine Seidman. Interview by Ushma S. Neill.
- Published in:
- 2013
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- Publication type:
- Biography
Deletion of thioredoxin-interacting protein in mice impairs mitochondrial function but protects the myocardium from ischemia-reperfusion injury.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 1, p. 267, doi. 10.1172/JCI44927
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- Publication type:
- Article
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.
- Published in:
- 2010
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- Publication type:
- journal article
Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.
- Published in:
- 2010
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- Publication type:
- journal article
A tribute to Ketty Schwartz.
- Published in:
- 2008
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- Publication type:
- Obituary
Eya4-deficient mice are a model for heritable otitis media.
- Published in:
- 2008
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- Publication type:
- journal article
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, n. 7, p. 1814, doi. 10.1172/JCI31080
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- Publication type:
- Article
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
- Published in:
- Journal of Clinical Investigation, 2007, v. 117, p. 1814, doi. 10.1172/JCI31080
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- Publication type:
- Article
Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage.
- Published in:
- 2007
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- Publication type:
- journal article
Genetic causes of human heart failure.
- Published in:
- Journal of Clinical Investigation, 2005, v. 115, n. 3, p. 518, doi. 10.1172/JCI200524351
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- Publication type:
- Article
Mechanism based therapies enable personalised treatment of hypertrophic cardiomyopathy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-26889-2
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- Publication type:
- Article
Different Transcriptomic Response to T. cruzi Infection in hiPSC-Derived Cardiomyocytes From Chagas Disease Patients With and Without Chronic Cardiomyopathy.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2022, v. 12, p. 1, doi. 10.3389/fcimb.2022.904747
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- Publication type:
- Article
Identification of genetic loci associated with paralysis, inflammation and weight loss in mouse experimental autoimmune encephalomyelitis.
- Published in:
- International Immunology, 2001, v. 13, n. 3, p. 257, doi. 10.1093/intimm/13.3.257
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- Publication type:
- Article
A One-Page Summary Report of Genome Sequencing for the Healthy Adult.
- Published in:
- Public Health Genomics, 2015, v. 18, n. 2, p. 123, doi. 10.1159/000370102
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- Publication type:
- Article
An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: Applications in mice with bone property altering Lrp5 mutations.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 10, p. 2081, doi. 10.1002/jbmr.1946
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- Publication type:
- Article
Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis.
- Published in:
- Nature Genetics, 2012, v. 44, n. 3, p. 343, doi. 10.1038/ng.1068
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- Publication type:
- Article
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 10, p. 996, doi. 10.1038/ng.934
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- Publication type:
- Article
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.
- Published in:
- Nature Genetics, 2005, v. 37, n. 4, p. 418, doi. 10.1038/ng1527
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- Publication type:
- Article
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
- Published in:
- Nature Genetics, 2002, v. 30, n. 2, p. 201, doi. 10.1038/ng815
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- Publication type:
- Article
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection.
- Published in:
- Nature Methods, 2009, v. 6, n. 7, p. 507, doi. 10.1038/nmeth.1343
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- Publication type:
- Article
Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.
- Published in:
- Scientific Reports, 2016, p. 25863, doi. 10.1038/srep25863
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- Publication type:
- Article
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.
- Published in:
- Scientific Reports, 2016, p. 22235, doi. 10.1038/srep22235
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- Publication type:
- Article
Genome-Wide Assessment for Genetic Variants Associated with Ventricular Dysfunction after Primary Coronary Artery Bypass Graft Surgery.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024593
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- Publication type:
- Article
The Role of Cardiac Troponin T Quantity and Function in Cardiac Development and Dilated Cardiomyopathy.
- Published in:
- PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002642
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- Publication type:
- Article
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
- Published in:
- 1997
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- Publication type:
- journal article
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009189
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- Publication type:
- Article
Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic.
- Published in:
- Cardiology, 2011, v. 118, n. 3, p. 179, doi. 10.1159/000328638
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- Publication type:
- Article
Robust identification of mosaic variants in congenital heart disease.
- Published in:
- Human Genetics, 2018, v. 137, n. 2, p. 183, doi. 10.1007/s00439-018-1871-6
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- Publication type:
- Article
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 242, doi. 10.1007/s00439-003-1066-6
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- Publication type:
- Article
Prevention of Ventricular Arrhythmia and Calcium Dysregulation in a Catecholaminergic Polymorphic Ventricular Tachycardia Mouse Model Carrying Calsequestrin-2 Mutation.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2011, v. 22, n. 3, p. 316, doi. 10.1111/j.1540-8167.2010.01877.x
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- Publication type:
- Article
Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2008, v. 19, n. 1, p. 104, doi. 10.1111/j.1540-8167.2007.00965.x
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- Publication type:
- Article
Electrophysiologic Characteristics of Accessory Atrioventricular Connections in an Inherited Form of Wolff-Parkinson-White Syndrome.
- Published in:
- Journal of Cardiovascular Electrophysiology, 1999, v. 10, n. 5, p. 629, doi. 10.1111/j.1540-8167.1999.tb00239.x
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- Publication type:
- Article
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12582-y
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- Publication type:
- Article
Paternal-age-related de novo mutations and risk for five disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11039-6
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- Publication type:
- Article
Brazilian urban population genetic structure reveals a high degree of admixture.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 111, doi. 10.1038/ejhg.2011.144
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- Publication type:
- Article
American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy.
- Published in:
- European Heart Journal, 2003, v. 24, n. 21, p. 1965, doi. 10.1016/S0195-668X(03)00479-2
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- Publication type:
- Article
Scientists on the Spot: Putting a halt to hypertrophic cardiomyopathy.
- Published in:
- Cardiovascular Research, 2020, v. 116, n. 3, p. e42, doi. 10.1093/cvr/cvz296
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- Publication type:
- Article
Joint analysis of left ventricular expression and circulating plasma levels of Omentin after myocardial ischemia.
- Published in:
- Cardiovascular Diabetology, 2017, v. 16, p. 1, doi. 10.1186/s12933-017-0567-x
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- Publication type:
- Article
Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy.
- Published in:
- JAMA: Journal of the American Medical Association, 2009, v. 301, n. 12, p. 1253, doi. 10.1001/jama.2009.371
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- Publication type:
- Article
Demystifying Cardiac Iron Deficiency in End‐stage Heart Failure.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.0R588
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- Publication type:
- Article
Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2009, v. 118, n. 9, p. 670, doi. 10.1177/000348940911800912
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- Publication type:
- Article
Dissecting spatio-temporal protein networks driving human heart development and related disorders.
- Published in:
- Molecular Systems Biology, 2010, v. 6, n. 1, p. 1, doi. 10.1038/msb.2010.36
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- Publication type:
- Article
Cardiomyocyte-enriched protein CIP protects against pathophysiological stresses and regulates cardiac homeostasis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)
- Published in:
- European Journal of Heart Failure, 2022, v. 24, n. 3, p. 406, doi. 10.1002/ejhf.2414
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- Publication type:
- Article
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
- Published in:
- Nature Communications, 2016, v. 7, n. 9, p. 12824, doi. 10.1038/ncomms12824
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- Publication type:
- Article