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

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

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Carballo, S, Blair, E, Watkins, H
Formáid:	Conference item
Foilsithe / Cruthaithe:	2004

Míreanna comhchosúla

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
de réir: Carballo, S, et al.
Foilsithe / Cruthaithe: (2004)

Autosomal dominant HCM and DCM phenotype caused by a novel mutation in phospholamban
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Foilsithe / Cruthaithe: (2004)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
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Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
de réir: Carballo, S, et al.
Foilsithe / Cruthaithe: (2006)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
de réir: Carballo, S, et al.
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A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy – the MELAS syndrome
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Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
de réir: Carballo, S, et al.
Foilsithe / Cruthaithe: (2005)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
de réir: Robinson, P, et al.
Foilsithe / Cruthaithe: (2002)

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
de réir: Carballo, S, et al.
Foilsithe / Cruthaithe: (2009)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
de réir: Carballo, S, et al.
Foilsithe / Cruthaithe: (2005)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
de réir: Blair, E, et al.
Foilsithe / Cruthaithe: (2001)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
de réir: Blair, E, et al.
Foilsithe / Cruthaithe: (2000)

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
de réir: Watkins, H
Foilsithe / Cruthaithe: (2003)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
de réir: Blair, E, et al.
Foilsithe / Cruthaithe: (2003)

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
de réir: Niloofar Naderi, et al.
Foilsithe / Cruthaithe: (2023-10-01)

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
de réir: Lina Basel-Vanagaite, et al.
Foilsithe / Cruthaithe: (2008-06-01)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
de réir: Abdulrazzak, H, et al.
Foilsithe / Cruthaithe: (2001)

Cardiac Steatosis Detected in Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy and Aortic Stenosis
de réir: Suttie, J, et al.
Foilsithe / Cruthaithe: (2011)

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
de réir: Lakdawala, N, et al.
Foilsithe / Cruthaithe: (2010)

Obesity-related ventricular remodelling is exacerbated in dilated and hypertrophic cardiomyopathy
de réir: Rayner, JJ, et al.
Foilsithe / Cruthaithe: (2020)

Hypertrophic, Dilated, and Arrhythmogenic Cardiomyopathy: Where Are We?
de réir: Hamza El Hadi, et al.
Foilsithe / Cruthaithe: (2023-02-01)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
de réir: Hudsmith, L, et al.
Foilsithe / Cruthaithe: (2006)

Functional effects of mutations in troponin T and tropomyosin which cause dilated cardiomyopathy
de réir: Robinson, P, et al.
Foilsithe / Cruthaithe: (2003)

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
de réir: Marston, S, et al.
Foilsithe / Cruthaithe: (2009)

Dilated cardiomyopathy and the desmin gene.
de réir: Mayosi, B, et al.
Foilsithe / Cruthaithe: (2000)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
de réir: Robinson, P, et al.
Foilsithe / Cruthaithe: (2007)

Direct evidence in man for haploinsufficiency as the mechanism of action of myosin-binding protein C mutations that cause hypertrophic cardiomyopathy
de réir: Carballo, S, et al.
Foilsithe / Cruthaithe: (2008)

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?
de réir: Jiri Bonaventura, et al.
Foilsithe / Cruthaithe: (2023-06-01)

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy
de réir: Atiyeh M Abdallah, et al.
Foilsithe / Cruthaithe: (2019-01-01)

Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair
de réir: Colin Kincaid, BS, et al.
Foilsithe / Cruthaithe: (2023-06-01)

A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy
de réir: Dong J, et al.
Foilsithe / Cruthaithe: (2025-01-01)

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
de réir: Marston, S, et al.
Foilsithe / Cruthaithe: (2012)

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
de réir: Geier, C, et al.
Foilsithe / Cruthaithe: (2008)

Structure-function relationships of eight mutations in troponin and tropomyosin that cause dilated cardiomyopathy
de réir: Mirza, M, et al.
Foilsithe / Cruthaithe: (2004)

Linked genetic modifiers in hypertrophic cardiomyopathy
de réir: Ektisham, J, et al.
Foilsithe / Cruthaithe: (2004)

Further Evidence of Autosomal Recessive Inheritance of <i>RPL3L</i> Pathogenic Variants with Rapidly Progressive Neonatal Dilated Cardiomyopathy
de réir: Hemanth Nannapaneni, et al.
Foilsithe / Cruthaithe: (2022-02-01)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
de réir: Redwood, C, et al.
Foilsithe / Cruthaithe: (2003)

Regression of dilated-hypokinetic hypertrophic cardiomyopathy by biventricular cardiac pacing.
de réir: Ashrafian, H, et al.
Foilsithe / Cruthaithe: (2007)

[Abnormal tropomyosin function in ATPase cycle in hypertrophic and dilated cardiomyopathies].
de réir: Borovikov, I, et al.
Foilsithe / Cruthaithe: (2013)

Novel MIP gene mutation causes autosomal-dominant congenital cataract
de réir: Jing-Lan Ni, et al.
Foilsithe / Cruthaithe: (2024-03-01)