Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction (Q37382053)

20 August 2017

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title

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction (English)

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20 August 2017

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Josef Finsterer

1

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20 August 2017

publication date

29 January 2009

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20 August 2017

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20 August 2017

volume

30

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20 August 2017

issue

5

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20 August 2017

page(s)

659-681

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Isolated noncompaction of left ventricular myocardium. A study of eight cases

20 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007/S00246-008-9359-0

The noncompaction of the left ventricular myocardium: our paediatric experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00246-008-9359-0

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00246-008-9359-0

Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00246-008-9359-0

Isolated noncompaction left ventricular myocardium and polymorphic ventricular tachycardia.

21 January 2018

1 reference

12 December 2020

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

1 reference

12 December 2020

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p

1 reference

12 December 2020

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

1 reference

12 December 2020

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

1 reference

12 December 2020

Non-compaction visualization using ECG-gated dual-source CT.

1 reference

12 December 2020

Mutations in sarcomere protein genes in left ventricular noncompaction

1 reference

12 December 2020

[Non-compaction of the myocardium in childhood]

1 reference

12 December 2020

1 reference

12 December 2020

Embryogenesis of the heart muscle.

1 reference

12 December 2020

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

1 reference

12 December 2020

Histiocytoid cardiomyopathy: a mitochondrial disorder

1 reference

12 December 2020

Cardiac and clinical phenotype in Barth syndrome

1 reference

12 December 2020

Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophy

1 reference

12 December 2020

Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium

1 reference

12 December 2020

Isolated left ventricular noncompaction in association with rheumatic mitral stenosis

1 reference

12 December 2020

Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization

1 reference

12 December 2020

Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome

1 reference

12 December 2020

Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy

1 reference

12 December 2020

Preliminary evidence for a cognitive phenotype in Barth syndrome

1 reference

12 December 2020

Apical hypertrophic cardiomyopathy in encephalomyopathy

1 reference

12 December 2020

Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant

1 reference

12 December 2020

Left ventricular non-compaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation

1 reference

12 December 2020

Left ventricular noncompaction: a pathological study of 14 cases

1 reference

12 December 2020

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

1 reference

12 December 2020

Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.

1 reference

12 December 2020

Terminal deletion 1q43 in a newborn with hydrocephalus

1 reference

12 December 2020

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

1 reference

12 December 2020

Persistence of spongy myocardium with embryonic blood supply in an adult

1 reference

12 December 2020

Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy

1 reference

12 December 2020

SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia

1 reference

12 December 2020

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis

1 reference

12 December 2020

Noncompaction and endocarditis in suspected mitochondrial disorder

1 reference

12 December 2020

Myocardial ischaemia in children with isolated ventricular non-compaction

1 reference

12 December 2020

Noncompaction in myotonic dystrophy type 1 on cardiac MRI

1 reference

12 December 2020

Disappearance of left ventricular hypertrabeculation/noncompaction after biventricular pacing in a patient with polyneuropathy

1 reference

12 December 2020

Evaluation of left atrial systolic function in noncompaction cardiomyopathy by real-time three-dimensional echocardiography

1 reference

12 December 2020

Postpartum syncope and noncompaction in suspected encephalomyopathy

1 reference

12 December 2020

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

1 reference

12 December 2020

Heart transplantation for Barth syndrome

1 reference

12 December 2020

Noncompaction of the myocardium associated with Roifman syndrome

1 reference

12 December 2020

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.

1 reference

12 December 2020

Heart rate variability in adult patients with isolated left ventricular noncompaction

1 reference

12 December 2020

Natural history and familial characteristics of isolated left ventricular non-compaction

1 reference

12 December 2020

Q-fever associated myocarditis in a 14-year-old boy

1 reference

12 December 2020

Isolated left ventricular hypertrabeculation/noncompaction in a Turner mosaic with male phenotype

1 reference

12 December 2020

Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan's phenotype

1 reference

12 December 2020

Paradoxical contributions of non-compacted and compacted segments to global left ventricular dysfunction in isolated left ventricular noncompaction

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12 December 2020

Association of noncompaction of left ventricular myocardium with Ebstein's anomaly

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12 December 2020

Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids

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12 December 2020

Neonatal, Lethal Noncompaction of the Left Ventricular Myocardium Is Allelic with Barth Syndrome

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12 December 2020

Acquired noncompaction associated with myopathy

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12 December 2020

Left ventricular non-compaction in a patient with myotonic dystrophy type 2.

1 reference

12 December 2020

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

1 reference

12 December 2020

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

1 reference

12 December 2020

Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders

1 reference

12 December 2020

Myotonic dystrophy: RNA-mediated muscle disease

1 reference

12 December 2020

Isolated left ventricular non-compaction: the case for abnormal myocardial development

1 reference

12 December 2020

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome

1 reference

12 December 2020

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

1 reference

12 December 2020

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

1 reference

12 December 2020

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

1 reference

12 December 2020

Ventricular non-compaction--a frequently ignored finding?

1 reference

12 December 2020

Acquired left ventricular hypertrabeculation/noncompaction in myotonic dystrophy type 1.

1 reference

12 December 2020

The cognitive and behavioural phenotype of Roifman syndrome

1 reference

12 December 2020

Isolated noncompaction of the ventricular myocardium

1 reference

12 December 2020

Mutations in ZASP define a novel form of muscular dystrophy in humans

1 reference

12 December 2020

Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology

1 reference

12 December 2020

Nail-patella syndrome associated with respiratory chain disorder

1 reference

12 December 2020

Apical hypertrophic cardiomyopathy or left ventricular non-compaction? A difficult differential diagnosis

1 reference

12 December 2020

Left ventricular non-compaction associated with a genetic variant of the CYP2C9 gene

1 reference

12 December 2020

Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies

1 reference

12 December 2020

Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome

1 reference

12 December 2020

Acquired noncompaction in Duchenne muscular dystrophy

1 reference

12 December 2020

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance

1 reference

12 December 2020

Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?

1 reference

12 December 2020

Clinical features of isolated noncompaction of the myocardium in children

1 reference

12 December 2020

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

1 reference

12 December 2020

Pierre Robin syndrome: an update.

1 reference

12 December 2020

Contrast-enhanced cardiac magnetic resonance in a patient with familial isolated ventricular non-compaction

1 reference

12 December 2020

Cardiac involveent in type 1 myotonic dystrophy

1 reference

12 December 2020

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

1 reference

12 December 2020

Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy

1 reference

12 December 2020

[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)]

1 reference

12 December 2020

Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy

1 reference

12 December 2020

Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome)

1 reference

12 December 2020

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity

1 reference

12 December 2020

Ventricular noncompaction and distal chromosome 5q deletion

1 reference

12 December 2020

Hypertrabeculated left ventricle in mitochondriopathy.

1 reference

12 December 2020

Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch

1 reference

12 December 2020

Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected

1 reference

12 December 2020

Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy

1 reference

12 December 2020

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.

1 reference

12 December 2020

Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.

1 reference

12 December 2020

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies

1 reference

12 December 2020

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

1 reference

12 December 2020

Intrafamilial variability of noncompaction of the ventricular myocardium

1 reference

12 December 2020

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

1 reference

12 December 2020

Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction

1 reference

12 December 2020

[Isolated abnormality ("noncompaction") of the myocardium in 3 children]

1 reference

12 December 2020

Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals

1 reference

12 December 2020

Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5

1 reference

12 December 2020

[Distal 1q monosomy. 2 new cases and description of the syndrome]

1 reference

12 December 2020

Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy

1 reference

12 December 2020

[Left ventricular noncompaction: a disease in search of a definition]

1 reference

12 December 2020

Complex mitochondriopathy associated with 4 mtDNA transitions

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12 December 2020

Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity

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12 December 2020

Reversible isolated left ventricular non-compaction?

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12 December 2020

Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy

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12 December 2020

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12 December 2020

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12 December 2020

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

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12 December 2020

New classification scheme of left ventricular noncompaction and correlation with ventricular performance

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12 December 2020

Left ventricular hypertrabeculation/noncompaction

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12 December 2020

Isolated ventricular noncompaction is associated with coronary microcirculatory dysfunction

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12 December 2020

Severe pulmonary hypertension secondary to a parachute-like mitral valve, with the left superior caval vein draining into the coronary sinus, in a girl with Turner's syndrome

1 reference

12 December 2020

Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis

1 reference

12 December 2020

Isolated ventricular non-compaction of the myocardium in adults

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12 December 2020

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

1 reference

12 December 2020

Laminins and their roles in mammals

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12 December 2020

Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction

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12 December 2020

MRI of subendocardial perfusion deficits in isolated left ventricular noncompaction

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12 December 2020

Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy

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12 December 2020

Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy

1 reference

12 December 2020

Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A

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12 December 2020

Cardiac manifestations in oxidative phosphorylation disorders of childhood

1 reference

12 December 2020

Noncompaction of the ventricular myocardium in Melnick-Needles syndrome

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12 December 2020

Left-ventricular non-compaction in a patient with monosomy 1p36

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12 December 2020

Myopathy, apical hypertrophic cardiomyopathy and left ventricular noncompaction within the same family

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12 December 2020

Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle

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12 December 2020

Noncompaction of the ventricular myocardium associated with mitral regurgitation and preserved ventricular systolic function

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12 December 2020

Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders

1 reference

12 December 2020

Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient

1 reference

12 December 2020

Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation

1 reference

12 December 2020

Implantable cardioverter-defibrillators in patients with left ventricular noncompaction

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12 December 2020

Left Ventricular Non-Compaction

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12 December 2020

Left ventricular non-compaction in a patient with becker's muscular dystrophy

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12 December 2020

Aborted sudden cardiac death revealing isolated noncompaction of the left ventricle in a patient with wolff-Parkinson-white syndrome

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12 December 2020

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene

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12 December 2020

Postnatal persistence of spongy myocardium with embryonic blood supply

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12 December 2020

Images in cardiovascular medicine. Adult patient with isolated noncompaction of ventricular myocardium

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12 December 2020

Primary, secondary, and coincidental types of myoadenylate deaminase deficiency

1 reference

12 December 2020

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

1 reference

12 December 2020

Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular non-compaction

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12 December 2020

10.1007/S00246-008-9359-0

Identifiers

DOI

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20 August 2017

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