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1989 1
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2000 1
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2003 3
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106 results

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Holt-Oram syndrome.
Skwarek-Dziekanowska A, Wójtowicz-Ściślak A, Sobieszek G. Skwarek-Dziekanowska A, et al. Eur Rev Med Pharmacol Sci. 2024 Jan;28(1):336-341. doi: 10.26355/eurrev_202401_34921. Eur Rev Med Pharmacol Sci. 2024. PMID: 38235884 Free article.
BACKGROUND: Holt-Oram syndrome (HOS) is a rare genetic illness, which concerns disturbances in the appearance of the upper limbs, congenital heart malformations, and cardiac conduction diseases. ...
BACKGROUND: Holt-Oram syndrome (HOS) is a rare genetic illness, which concerns disturbances in the appearance of the up …
Holt-Oram syndrome.
Goldfarb CA, Wall LB. Goldfarb CA, et al. J Hand Surg Am. 2014 Aug;39(8):1646-8. doi: 10.1016/j.jhsa.2014.02.015. Epub 2014 Mar 20. J Hand Surg Am. 2014. PMID: 24656395 Review. No abstract available.
Radial longitudinal deficiency.
Maschke SD, Seitz W, Lawton J. Maschke SD, et al. J Am Acad Orthop Surg. 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. J Am Acad Orthop Surg. 2007. PMID: 17213381 Review.
All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram s …
All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complet …
TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.
Mori AD, Bruneau BG. Mori AD, et al. Curr Opin Cardiol. 2004 May;19(3):211-5. doi: 10.1097/00001573-200405000-00004. Curr Opin Cardiol. 2004. PMID: 15096952 Review.
PURPOSE OF REVIEW: Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (HOS), an autosomal-dominant condition characterized by a familial history of congenital heart defects and preaxial radial ray upper limb defects. ...
PURPOSE OF REVIEW: Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (HOS), an autosomal-domina …
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, Lenne B, Delobel B, Porchet N, Cormier-Daire V, Smol T, Escande F, Manouvrier-Hanu S, Petit F. Vanlerberghe C, et al. Eur J Hum Genet. 2019 Mar;27(3):360-368. doi: 10.1038/s41431-018-0303-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552424 Free PMC article.
Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. ...
Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect …
Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.
Arkoumanis PT, Gklavas A, Karageorgou M, Gourzi P, Mantzaris G, Pantou M, Papaconstantinou I. Arkoumanis PT, et al. Med Arch. 2018 Oct;72(4):292-294. doi: 10.5455/medarh.2018.72.292-294. Med Arch. 2018. PMID: 30514998 Free PMC article. Review.
INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. ...Therefore, a possible genetic connection between Holt …
INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects …
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
van Ouwerkerk AF, Bosada FM, van Duijvenboden K, Houweling AC, Scholman KT, Wakker V, Allaart CP, Uhm JS, Mathijssen IB, Baartscheer T, Postma AV, Barnett P, Verkerk AO, Boukens BJ, Christoffels VM. van Ouwerkerk AF, et al. Circulation. 2022 Feb 22;145(8):606-619. doi: 10.1161/CIRCULATIONAHA.121.054347. Epub 2022 Feb 3. Circulation. 2022. PMID: 35113653 Free PMC article.
BACKGROUND: The pathogenic missense variant p.G125R in TBX5 (T-box transcription factor 5) causes Holt-Oram syndrome (also known as hand-heart syndrome) and early onset of atrial fibrillation. ...RESULTS: We discovered high incidence of atrial extra systoles …
BACKGROUND: The pathogenic missense variant p.G125R in TBX5 (T-box transcription factor 5) causes Holt-Oram syndrome (a …
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW. Jhang WK, et al. Cardiol Young. 2015 Aug;25(6):1093-8. doi: 10.1017/S1047951114001656. Epub 2014 Sep 12. Cardiol Young. 2015. PMID: 25216260
BACKGROUND: Holt-Oram syndrome is characterised by CHD and limb anomalies. Mutations in TBX5 gene, encoding the T-box transcription factor, are responsible for the development of Holt-Oram syndrome, but such mutations are variably detecte …
BACKGROUND: Holt-Oram syndrome is characterised by CHD and limb anomalies. Mutations in TBX5 gene, encoding the T-box t …
Holt Oram syndrome: a case report and review of the literature.
Virdis G, Dessole M, Dessole S, Ambrosini G, Cosmi E, Cherchil PL, Capobianco G. Virdis G, et al. Clin Exp Obstet Gynecol. 2016;43(1):137-9. Clin Exp Obstet Gynecol. 2016. PMID: 27048037 Review.
Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. ...
Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogen …
Congenital malformations of the hand and forearm in children: what radiologists should know.
Aucourt J, Budzik JF, Manouvrier-Hanu S, Mézel A, Cotten A, Boutry N. Aucourt J, et al. Semin Musculoskelet Radiol. 2012 Apr;16(2):146-58. doi: 10.1055/s-0032-1311766. Epub 2012 May 30. Semin Musculoskelet Radiol. 2012. PMID: 22648430 Review.
Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syn …
Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeleta …
106 results