Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
about
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathyBarth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthBarth syndrome.Noncompaction of the left ventricle: a new cardiomyopathy is presented to the clinicianKnockout of SRC-1 and SRC-3 in Mice Decreases Cardiomyocyte Proliferation and Causes a Noncompaction Cardiomyopathy PhenotypeFamilial occurrence of isolated non-compaction cardiomyopathy.Case report. Isolated left ventricular myocardium non-compaction: MR imaging findings from three cases.Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain geneClinical spectrum and diagnosis of mitochondrial disorders.X chromosome inactivation in carriers of Barth syndrome.Barth syndrome is associated with a cognitive phenotype.Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.Natural history of Barth syndrome: a national cohort study of 22 patients.Molecular mechanisms of inherited cardiomyopathies.Mutation characterization and genotype-phenotype correlation in Barth syndrome.Non-compaction of the ventricular myocardium.Biventricular Noncompaction Cardiomyopathy in an Adult with Unique Facial Dysmorphisms: Case Report and Brief ReviewLoss of cardiolipin leads to perturbation of mitochondrial and cellular iron homeostasisBarth syndrome, a human disorder of cardiolipin metabolism.The pathogenicity of genetic variants previously associated with left ventricular non-compaction.Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.Isolated left ventricular noncompaction causing stroke in a 30-year-old woman: case report and literature review.Implications of genetic testing in noncompaction/hypertrabeculation.Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseaseMolecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.Left Ventricular Non-Compaction Syndrome Misdiagnosed as Dilated Cardiomyopathy on Several Occasions, Presenting With Recurrent Stroke.End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?Eponym: Barth syndrome.Genetic testing in the contemporary diagnosis of cardiomyopathy.Advances in the understanding of Barth syndrome.Isolated left ventricular noncompaction: clinical profile and prognosis in 106 adult patients.A novel association of biventricular cardiac noncompaction and diabetic embryopathy: case report and review of the literature.Evaluation and management of left ventricular noncompaction cardiomyopathy.Isolated left ventricular noncompaction in children: two cases with different manifestations.The cellular and molecular mechanisms for neutropenia in Barth syndrome.A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report.Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome
P2860
Q24604161-A181458F-1140-4015-9FF9-22752E8A6802Q24632525-091B4E01-EBD7-48AD-A66D-4FA170333103Q27692590-6FABE683-F722-4275-9F10-F9663E9C06BCQ28306988-EED92AFF-5D02-4DA7-866A-FA064EF526B3Q30659017-78D3A81F-A915-4D09-BEE3-383864B9B7CAQ33153862-D404BACE-7AFF-4DFC-B7B8-EB2B2FD534B8Q33157043-A5D8637C-44BE-4C20-8BB9-38722032DAF5Q33312381-F02029A3-AD32-4AD1-BEDD-A049986FCC7BQ34386724-E8981056-25E0-4970-AC75-1E08E8B21A6CQ34387809-890C02FF-530F-4644-AF51-5DB00E30CB63Q34577468-DD007823-06D4-4686-80B9-7F54CF1ACF06Q34646017-7FA925A1-8B44-4A46-81BA-77E30B352392Q34651626-1D119363-5E9C-4B93-A997-3275EE87FEAFQ34882653-2B6104F1-CBDC-4F14-8108-3D0A98F0F6A3Q35249958-6ABD497B-1E65-42A2-B6EA-9066FB458D87Q35252676-D7BFEFBB-738C-40FC-9D34-30112F82661BQ35912742-073E05A3-4C0E-4492-ABAC-EB74EC315C32Q36543745-D3373063-463B-4B59-88A9-7FC285153BDEQ36594262-425FFF7C-E93D-47E4-94A6-7E305BFFBEE5Q36706653-0C7F9BCB-2302-4EC6-99CC-2B3C40D2C9C5Q36972627-48A536C8-BEF7-4AAD-B44C-2EF4F58B5150Q37005359-61FB04DF-DC2E-4C6B-96BC-6952063690F7Q37103071-18B365CA-8242-47ED-B825-0F6B98A4485EQ37127659-8A115B48-9C24-4F5E-ADC4-948E9F1B8740Q37675919-A50B721E-8877-4AFD-A902-343DE31E1297Q37711470-6CB49998-50B8-43CA-A049-5C86AB7E510AQ37743037-4899E537-79DE-40B2-B38E-F9C801659AAAQ37834124-13852FB8-F89C-4325-9509-B29A70BD95AAQ37938707-68A024BA-77AC-455D-846F-083FD0CFAC11Q38058475-C4F60F1D-1E21-42C1-91A5-4189EC9F024CQ38083725-893A8F9B-28FF-4809-963E-D88B8F8F513BQ38148479-38189213-432B-46DC-B30B-42824B53C775Q38267022-91750904-0B4E-40DB-9200-0CDCAD20B65CQ38268501-ABDF5F4E-08E0-4A6C-838C-7EEAAAD25E4CQ38327741-F35523D2-C395-487A-BCF6-9F90750CE4D9Q39453643-3F5460D7-9CC4-4CDD-8D66-2691A7A1A0A1Q39649796-DCE5B466-7984-4572-BD3F-9172B740E7F5Q41420048-BA45DB51-CD98-4824-9114-5C27565D112CQ41659579-63049E94-2BE1-42DB-ACA6-938EBEF4B59CQ41770047-6A0C0912-8F51-4032-85AB-3FCC0F1F2AB9
P2860
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Neonatal, lethal noncompaction ...... s allelic with Barth syndrome.
@ast
Neonatal, lethal noncompaction ...... s allelic with Barth syndrome.
@en
type
label
Neonatal, lethal noncompaction ...... s allelic with Barth syndrome.
@ast
Neonatal, lethal noncompaction ...... s allelic with Barth syndrome.
@en
prefLabel
Neonatal, lethal noncompaction ...... s allelic with Barth syndrome.
@ast
Neonatal, lethal noncompaction ...... s allelic with Barth syndrome.
@en
P2093
P2860
P356
P1476
Neonatal, lethal noncompaction ...... s allelic with Barth syndrome.
@en
P2093
Mumford BR
Thompson V
P2860
P304
P356
10.1086/514879
P407
P577
1997-10-01T00:00:00Z