A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance

ग्रंथसूची विवरण
मुख्य लेखकों:	Carballo, S, Blair, E, Watkins, H
स्वरूप:	Conference item
प्रकाशित:	2004

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
द्वारा: Carballo, S, और अन्य
प्रकाशित: (2004)

Autosomal dominant HCM and DCM phenotype caused by a novel mutation in phospholamban
द्वारा: Carballo, S, और अन्य
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Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
द्वारा: Carballo, S, और अन्य
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Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
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A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome
द्वारा: Casian Mihnea, और अन्य
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Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
द्वारा: Carballo, S, और अन्य
प्रकाशित: (2005)

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
द्वारा: Carballo, S, और अन्य
प्रकाशित: (2009)

Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies
द्वारा: Paradossi Umberto, और अन्य
प्रकाशित: (2008-12-01)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
द्वारा: Carballo, S, और अन्य
प्रकाशित: (2005)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
द्वारा: Robinson, P, और अन्य
प्रकाशित: (2002)

Structures of PKA–phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy
द्वारा: Juan Qin, और अन्य
प्रकाशित: (2022-03-01)

Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
द्वारा: Yilu Wang, और अन्य
प्रकाशित: (2013-01-01)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
द्वारा: Blair, E, और अन्य
प्रकाशित: (2001)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
द्वारा: Blair, E, और अन्य
प्रकाशित: (2000)

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
द्वारा: Watkins, H
प्रकाशित: (2003)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
द्वारा: Blair, E, और अन्य
प्रकाशित: (2003)

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
द्वारा: Niloofar Naderi, और अन्य
प्रकाशित: (2023-10-01)

Cardiac Steatosis Detected in Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and Aortic Stenosis
द्वारा: Suttie, J, और अन्य
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Obesity-related ventricular remodelling is exacerbated in dilated and hypertrophic cardiomyopathy
द्वारा: Rayner, JJ, और अन्य
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Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the <it>MYBPC3 </it>gene
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Hypertrophic, Dilated, and Arrhythmogenic Cardiomyopathy: Where Are We?
द्वारा: Hamza El Hadi, और अन्य
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Precision and genomic medicine for dilated and hypertrophic cardiomyopathy
द्वारा: Seitaro Nomura, और अन्य
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MicroRNAs in Hypertrophic, Arrhythmogenic and Dilated Cardiomyopathy
द्वारा: Enrica Chiti, और अन्य
प्रकाशित: (2021-09-01)

Hearing Profile in Patients with Dilated and Hypertrophic Cardiomyopathies
द्वारा: Gehan Abd El-Rahman El-Zarea, और अन्य
प्रकाशित: (2016-02-01)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
द्वारा: Hudsmith, L, और अन्य
प्रकाशित: (2006)

Dilated cardiomyopathy and the desmin gene.
द्वारा: Mayosi, B, और अन्य
प्रकाशित: (2000)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
द्वारा: Abdulrazzak, H, और अन्य
प्रकाशित: (2001)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
द्वारा: Robinson, P, और अन्य
प्रकाशित: (2007)

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
द्वारा: Shiv Kumar Viswanathan, और अन्य
प्रकाशित: (2017-01-01)

Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy
द्वारा: Niels Grote Beverborg, और अन्य
प्रकाशित: (2021-08-01)

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
द्वारा: Lina Basel-Vanagaite, और अन्य
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Intrafamilial phenotypic variability of DNAJB6 mutation associated autosomal dominantly inherited myopathy: a family report and literature review
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प्रकाशित: (2021-03-01)

Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
द्वारा: Megan J. Puckelwartz, और अन्य
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Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?
द्वारा: Jiri Bonaventura, और अन्य
प्रकाशित: (2023-06-01)

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
द्वारा: Lakdawala, N, और अन्य
प्रकाशित: (2010)

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes
द्वारा: Lorenzo Alamo, और अन्य
प्रकाशित: (2017-06-01)

Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype
द्वारा: Val A. Fajardo, और अन्य
प्रकाशित: (2015-08-01)

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
द्वारा: Atiyeh M Abdallah, और अन्य
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A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy
द्वारा: Dong J, और अन्य
प्रकाशित: (2025-01-01)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance

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