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Judge, Daniel
One or more keywords matched the following items that are connected to Judge, Daniel
Item TypeName
Concept Phenotype
Academic Article Angiotensin II-dependent TGF-? signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
Academic Article Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.
Academic Article Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations.
Academic Article Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey).
Academic Article Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
Academic Article Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
Academic Article Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced.
Academic Article Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
Academic Article Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis.
Academic Article Further evidence of harm from exercise in ARVD/C.
Academic Article Genetic evaluation of familial cardiomyopathy.
Academic Article Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis.
Academic Article The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance.
Academic Article Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
Academic Article Neonatal Transplantation Confers Maturation of PSC-Derived Cardiomyocytes Conducive to Modeling Cardiomyopathy.
Academic Article Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Academic Article Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Academic Article Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
Academic Article Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Academic Article TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome.
Academic Article Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear.
Academic Article Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
Academic Article A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Academic Article The Role of Genetics in Peripartum Cardiomyopathy.
Academic Article Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia.
Academic Article Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
Academic Article Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.
Academic Article Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.
Academic Article Mitral valve disease in Marfan syndrome and related disorders.
Academic Article The mitral valve in hypertrophic cardiomyopathy: old versus new concepts.
Academic Article Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation.
Academic Article Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Academic Article FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.
Academic Article Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.
Academic Article Phase 3 Multicenter Study of Revusiran in Patients with Hereditary Transthyretin-Mediated (hATTR) Amyloidosis with Cardiomyopathy (ENDEAVOUR).
Academic Article Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Academic Article Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
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