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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeFunctional analysis of TBX5 missense mutations associated with Holt-Oram syndromeMutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathyInherited bradyarrhythmia: A diverse genetic backgroundIdentification and localization of TBX5 transcription factor during human cardiac morphogenesisCooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heartTbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb FormationInteraction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac developmentTBX5 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 functionAn evolutionarily conserved nuclear export signal facilitates cytoplasmic localization of the Tbx5 transcription factor.The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse modelCHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotypeTbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterningMolecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disordersHolt Oram syndrome: a registry-based study in Europe.Regulatory modulation of the T-box gene Tbx5 links development, evolution, and adaptation of the sternum.Xenopus: An emerging model for studying congenital heart disease.TBX5 is required for embryonic cardiac cell cycle progression.Optomotor-blind negatively regulates Drosophila eye development by blocking Jak/STAT signalingDefining Features of the Upper Extremity in Holt-Oram Syndrome.Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association.Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes."Soft" tissue patterning: muscles and tendons of the limb take their form.The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion.Atypical carpal tunnel syndrome in a holt oram patient: a case report and literature review.Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction.Evaluation and management of bradycardia in neonates and children.A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.TBX5: A Key Regulator of Heart Development.Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis.Coordinated development of the limb musculoskeletal system: Tendon and muscle patterning and integration with the skeleton.The Complex Genetic Basis of Congenital Heart Defects.Holt-Oram Syndrome: A Rare Variant.A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population.Holt-Oram syndrome: Anesthetic challenges and safe outcome.
P2860
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P2860
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Holt-Oram syndrome: a clinical genetic study.
@ast
Holt-Oram syndrome: a clinical genetic study.
@en
type
label
Holt-Oram syndrome: a clinical genetic study.
@ast
Holt-Oram syndrome: a clinical genetic study.
@en
prefLabel
Holt-Oram syndrome: a clinical genetic study.
@ast
Holt-Oram syndrome: a clinical genetic study.
@en
P2093
P2860
P356
P1476
Holt-Oram syndrome: a clinical genetic study.
@en
P2093
Newbury-Ecob RA
Raeburn JA
P2860
P304
P356
10.1136/JMG.33.4.300
P407
P577
1996-04-01T00:00:00Z