Works matching DE "HOLT-Oram syndrome"
Results: 36
EP13.08: Prenatal diagnosis of Holt-Oram syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 314, doi. 10.1002/uog.18515
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- Article
A novel de novo <em>TBX5 </em>mutation in a patient with Holt-Oram syndrome.
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- Application of Clinical Genetics, 2018, v. 11, p. 157, doi. 10.2147/TACG.S183418
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- Article
HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-54312-w
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- Article
Intraabdominal Pseudocyst Developed after Ventriculoperitoneal Shunt: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 6, p. 5, doi. 10.7860/JCDR/2015/14064.6114
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- Article
Unilateral Hypoplastic Kidney in a Case of Holt-Oram Syndrome.
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- 2013
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- Case Study
543 miR-19a replacement rescues cardiac and fin defects in zebrafish model of holt-oram syndrome.
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- Cardiovascular Research, 2014, v. 103, n. suppl_1, p. S99, doi. 10.1093/cvr/cvu095.1
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- Article
Successful surgical closure of an aortopulmonary window associated with Holt-Oram syndrome in adulthood.
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- 2018
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- Case Study
Prospective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?
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- Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00191
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- Article
Coronary artery compression by pectus excavatum and an epicardial pacing lead.
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- 2021
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- Case Study
Interventional Closure of Secundum Type Atrial Septal Defects in Infants Less Than 10 Kilograms: Indications and Procedural Outcome.
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- 2016
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- Publication type:
- journal article
Holt-Oram Syndrome with Sacrococcygeal Teratoma - A Rare Association.
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- Medical Bulletin of Sisli Etfal Hospital, 2023, v. 57, n. 4, p. 563, doi. 10.14744/SEMB.2022.02359
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- Article
Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation.
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- Case Reports in Cardiology, 2014, p. 1, doi. 10.1155/2014/130617
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- Article
Holt-oram syndrome associated with double outlet right ventricle: A rare association.
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- 2013
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- Case Study
Unusual Combination of Holt-Oram Syndrome and Persistent Left Superior Vena Cava.
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- Congenital Heart Disease, 2012, v. 7, n. 4, p. E46, doi. 10.1111/j.1747-0803.2011.00594.x
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- Article
Genetic Analyses Identified a <italic>SALL4</italic> Gene Mutation Associated with Holt–Oram Syndrome.
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- DNA & Cell Biology, 2018, v. 37, n. 4, p. 398, doi. 10.1089/dna.2017.4094
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- Article
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 557, doi. 10.1002/mgg3.234
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- Article
Monilethrix with Holt-Oram Syndrome: Case Report of a Rare Association.
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- 2015
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- Publication type:
- Case Study
Holt–Oram syndrome with aortopulmonary window – a rare association.
- Published in:
- 2014
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- Publication type:
- Case Study
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.
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- Clinical Genetics, 2017, v. 91, n. 3, p. 499, doi. 10.1111/cge.12870
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- Article
Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research.
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- Clinical Genetics, 2016, v. 90, n. 3, p. 284, doi. 10.1111/cge.12777
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- Article
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 863, doi. 10.1038/ejhg.2012.16
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- Article
Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature.
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- 2018
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- Publication type:
- Case Study
Guidewire replacement of leaking paediatric intravenous cannula.
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- Indian Journal of Anaesthesia, 2016, v. 60, n. 1, p. 70, doi. 10.4103/0019-5049.174814
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- Article
Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.
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- PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006521
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- Article
A CASE REPORT ON HOLT-ORAM SYNDROME (HEART-HAND).
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- ARYA Atherosclerosis, 2011, v. 7, n. 2, p. 1
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- Article
The Classical Holt Oram Syndrome.
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- 2016
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- Case Study
Holt Oram syndrome: a registry-based study in Europe.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0156-y
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- Article
Pneumopericardium after Minimally Invasive Atrial Septal Defect Closure.
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- Annals of Cardiac Anaesthesia, 2018, v. 21, n. 1, p. 97, doi. 10.4103/aca.ACA_37_17
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- Article
Holt-Oram syndrome: Anesthetic challenges and safe outcome.
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- 2017
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- Publication type:
- journal article
Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report.
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- 2019
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- Publication type:
- Case Study
Association Between the 4p16 Susceptibility Locus and the Risk of Atrial Septal Defect in Population from Southeast China.
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- Pediatric Cardiology, 2016, v. 37, n. 1, p. 120, doi. 10.1007/s00246-015-1248-8
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- Article
Novel TBX5 Duplication in a Japanese Family with Holt-Oram Syndrome.
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- 2015
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- Publication type:
- Report
Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision.
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- Anesthesia: Essays & Researches, 2014, v. 8, n. 1, p. 83, doi. 10.4103/0259-1162.128917
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- Article
Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.
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- 2016
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- Publication type:
- journal article
Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association.
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- Heart Views, 2016, v. 17, n. 1, p. 27, doi. 10.4103/1995-705X.182644
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- Publication type:
- Article
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.
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- Molecular Medicine Reports, 2016, v. 13, n. 5, p. 4349, doi. 10.3892/mmr.2016.5043
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- Publication type:
- Article