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[Hereditary hemorrhagic telangiectasia].
Parrot A, Barral M, Amiot X, Bachmeyer C, Wagner I, Eyries M, Alamowitch S, Ederhy S, Epaud R, Dupuis-Girod S, Cadranel J. Parrot A, et al. Rev Mal Respir. 2023 May;40(5):391-405. doi: 10.1016/j.rmr.2023.02.007. Epub 2023 Apr 14. Rev Mal Respir. 2023. PMID: 37062633 Review. French.
Hereditary hemorrhagic telangiectasia, also known as Rendu-Osler - Weber disease, is a rare, autosomal dominant vascular disease, with prevalence of 1/5,000. The condition is characterized by muco-cutaneous telangiectasias, which are responsible for a …
Hereditary hemorrhagic telangiectasia, also known as Rendu-Osler - Weber disease, is a rare, autosomal dominant vascula …
Update on pulmonary arteriovenous malformations.
Salibe-Filho W, Oliveira FR, Terra-Filho M. Salibe-Filho W, et al. J Bras Pneumol. 2023 May 1;49(2):e20220359. doi: 10.36416/1806-3756/e20220359. eCollection 2023. J Bras Pneumol. 2023. PMID: 37132738 Free PMC article. Review.
The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, with mutations in the ENG gene on chromosome 9 (HHT type 1) or in the ACVRL1/ALK1 complex (HHT ty …
The primary etiology of pulmonary arteriovenous malformations is hereditary hemorrhagic telangiectasia (HHT), also know …
Hereditary haemorrhagic telangiectasia: a clinical and scientific review.
Govani FS, Shovlin CL. Govani FS, et al. Eur J Hum Genet. 2009 Jul;17(7):860-71. doi: 10.1038/ejhg.2009.35. Epub 2009 Apr 1. Eur J Hum Genet. 2009. PMID: 19337313 Free PMC article. Review.
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 people. ...
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 people. ...
[Hereditary hemorrhagic telangiectasia].
Pérez del Molino A, Zarrabeitia R, Fernández A. Pérez del Molino A, et al. Med Clin (Barc). 2005 Apr 23;124(15):583-7. doi: 10.1157/13074142. Med Clin (Barc). 2005. PMID: 15860174 Review. Spanish.
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with a dominant autosomic transmission. Its prevalence is estimated in one in 5-8,000 individuals. Two different mutations have been described involving endo …
Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler-Weber disease is a genetic disorder with a dominant autosomi …
Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
Dupuis-Girod S, Bailly S, Plauchu H. Dupuis-Girod S, et al. J Thromb Haemost. 2010 Jul;8(7):1447-56. doi: 10.1111/j.1538-7836.2010.03860.x. Epub 2010 Mar 19. J Thromb Haemost. 2010. PMID: 20345718 Free article. Review.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, mucocutaneous telangiectases, and, in some cases, life-threatening visceral arteriovenous malformations of various types, …
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by severe and recu …
Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia.
Azuma H. Azuma H. J Med Invest. 2000 Aug;47(3-4):81-90. J Med Invest. 2000. PMID: 11019486 Review.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia and hemorrhage. ...Binding of TGF-beta to the type II TGF-beta receptor on endothelial cells, which is accelerated in the presence of endo …
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular dysplasia and h …
Genetic abnormalities in hereditary hemorrhagic telangiectasia.
Marchuk DA. Marchuk DA. Curr Opin Hematol. 1998 Sep;5(5):332-8. doi: 10.1097/00062752-199809000-00005. Curr Opin Hematol. 1998. PMID: 9776212 Review.
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is an autosomal dominant disorder of localized angiodysplasia, although it is sometimes mistakenly identified as a hemostatic disorder due to its associated characteristic bleeding. .. …
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is an autosomal dominant disorder of localiz …
Spinal arteriovenous fistulae in patients with hereditary hemorrhagic telangiectasia: A case report and systematic review of the literature.
Brinjikji W, Nasr DM, Cloft HJ, Iyer VN, Lanzino G. Brinjikji W, et al. Interv Neuroradiol. 2016 Jun;22(3):354-61. doi: 10.1177/1591019915623560. Epub 2016 Jan 27. Interv Neuroradiol. 2016. PMID: 26823330 Free PMC article. Review.
BACKGROUND: Although rare, spinal arteriovenous malformations (AVMs) are thought to be more prevalent in the hereditary Hereditary Hemorrhagic Telangiectasia (HHT) population. METHODS: We report a case of a spinal AVM in a 37-year-old female with HHT t …
BACKGROUND: Although rare, spinal arteriovenous malformations (AVMs) are thought to be more prevalent in the hereditary Hereditary …
Structural causes of ischemic and hemorrhagic stroke in children: moyamoya and arteriovenous malformations.
Smith ER. Smith ER. Curr Opin Pediatr. 2015 Dec;27(6):706-11. doi: 10.1097/MOP.0000000000000280. Curr Opin Pediatr. 2015. PMID: 26474344 Review.
Several common pediatric conditions - trisomy 21, sickle-cell disease, and neurofibromatosis type I - demonstrate an increased risk of moyamoya development. Advances in imaging have improved the diagnosis of moyamoya and surgical revascularization has been further supporte …
Several common pediatric conditions - trisomy 21, sickle-cell disease, and neurofibromatosis type I - demonstrate an increased risk o …
Pulmonary vascular complications of hereditary haemorrhagic telangiectasia.
Circo S, Gossage JR. Circo S, et al. Curr Opin Pulm Med. 2014 Sep;20(5):421-8. doi: 10.1097/MCP.0000000000000076. Curr Opin Pulm Med. 2014. PMID: 25032812 Review.
PURPOSE OF REVIEW: The purpose of this study is to present the latest advances and recommendations in the diagnosis and treatment of pulmonary vascular complications associated with hereditary haemorrhagic telangiectasia (HHT): pulmonary arteriovenous malformations …
PURPOSE OF REVIEW: The purpose of this study is to present the latest advances and recommendations in the diagnosis and treatment of pulmona …
18 results