TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
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VACTERL/VATER AssociationTBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotypeA novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological functionFunctional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: shunt lesions.Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genesHolt Oram syndrome: a registry-based study in Europe.Xenopus: An emerging model for studying congenital heart disease.Tbx5 and Osr1 interact to regulate posterior second heart field cell cycle progression for cardiac septation.A case report on holt-oram syndrome (heart-hand).A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.Asymmetric cell convergence-driven zebrafish fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signalTbx5-dependent pathway regulating diastolic function in congenital heart disease.The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac SeptationAdults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Atypical carpal tunnel syndrome in a holt oram patient: a case report and literature review.KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.TBX5: A Key Regulator of Heart Development.Kctd10 regulates heart morphogenesis by repressing the transcriptional activity of Tbx5a in zebrafish.Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.Horseshoe Lung Associated With Holt-Oram Syndrome.Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt-Oram Syndrome.Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.A Matter of the Heart: The African Clawed Frog Xenopus as a Model for Studying Vertebrate Cardiogenesis and Congenital Heart Defects.An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.Tetralogy of Fallot with Holt-Oram syndrome: case report and review.A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromesElectrical disorders in atrial septal defect: genetics and heritabilityHolt-Oram Syndrome With Multiple Cardiac AbnormalitiesIdentification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot
P2860
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P2860
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
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2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@ast
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@en
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@en-gb
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@nl
type
label
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@ast
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@en
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@en-gb
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@nl
prefLabel
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@ast
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@en
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@en-gb
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@nl
P2093
P2860
P3181
P1433
P1476
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
@en
P2093
Alan L Shanske
Annick Raas-Rothschild
Craig T Basson
Darrel J Waggoner
Deborah A McDermott
Fred Gilbert
Gail E Graham
Jeffrey W Innis
Joseph S Lee
P2860
P3181
P356
10.1203/01.PDR.0000182593.95441.64
P407
P577
2005-11-01T00:00:00Z
P6179
1020873444