Zobrazeno 1 - 10
of 14
pro vyhledávání: '"D. A. Marchuk"'
Autor:
K. P. Thompson, J. Sykes, P. Chandakkar, P. Marambaud, N. T. Vozoris, D. A. Marchuk, M. E. Faughnan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Vascular malformations in hereditary hemorrhagic telangiectasia (HHT) lead to chronic recurrent bleeding, hemorrhage, stroke, heart failure, and liver disease. There is great interest in identifying novel therapies for epistaxis i
Externí odkaz:
https://doaj.org/article/38df5068667a42a0b1a083e941b5304f
Autor:
K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer, D. A. Marchuk, M. T. Lawton, T. Krings, M. E. Faughnan, Brain Vascular Malformation Consortium HHT Investigator Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatment options for brain V
Externí odkaz:
https://doaj.org/article/77e8d90e8c0e4c73afa7b8b9cc4b5ae5
Autor:
K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton, Marie E. Faughnan, the Brain Vascular Malformation Consortium HHT Investigator Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). Prospective data suggests similar mortality, to the general population, in De
Externí odkaz:
https://doaj.org/article/3d79a611241d4508a3f9ca866a6886cd
Autor:
F. Galeffi, D. A. Snellings, S. E. Wetzel-Strong, N. Kastelic, J. Bullock, C. J. Gallione, P. E. North, D. A. Marchuk
Publikováno v:
Angiogenesis
Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the G p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20df61ad8026c8297db063b4cf8e8fa2
https://pubmed.ncbi.nlm.nih.gov/35635655
https://pubmed.ncbi.nlm.nih.gov/35635655
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 12
The technology of cloning large fragments of DNA in yeast as yeast artificial chromosomes (YACs) (1), combined with that of electro-phoretic separation of large fragments by pulsed-field gel electrophoresis (PFGE), has revolutionized research in mole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::89058b6930ecea861137febccd55ddb1
https://pubmed.ncbi.nlm.nih.gov/21409638
https://pubmed.ncbi.nlm.nih.gov/21409638
Publikováno v:
Archives des maladies du coeur et des vaisseaux. 96(3)
Recent progress in genomic applications have led to a better understanding of the relationship between genetic background and cardiovascular diseases such as heart failure. The broad variability in heart failure patient outcome is in part secondary t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b15b03f04f51d96611249c01f589b153
https://pubmed.ncbi.nlm.nih.gov/12722550
https://pubmed.ncbi.nlm.nih.gov/12722550
Publikováno v:
American journal of medical genetics. 93(4)
HHT type 2 (HHT 2) is a multi-system vascular dysplasia caused by a mutation in the ALK-1 gene, but the phenotype has not been well defined. We report on 51 members of an HHT 2 kindred with an ALK-1 gene mutation shown to be associated with the disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::93c5917b24a6c271a9f977d62c146a28
https://pubmed.ncbi.nlm.nih.gov/10946360
https://pubmed.ncbi.nlm.nih.gov/10946360
Publikováno v:
Human mutation. 12(2)
Hereditary hemmorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dyplasia and recurrent hemorrhage. One of the causative genes is the activin receptor-like kinase-1 (ALK-1) gene located on chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8529c38f4e342f5e5d75f62b60b45065
https://pubmed.ncbi.nlm.nih.gov/10694922
https://pubmed.ncbi.nlm.nih.gov/10694922
Publikováno v:
American journal of medical genetics. 82(1)
Infantile hemangiomas are the most common tumor of infancy, occurring with an incidence of up to 10% of all births. They are benign but highly proliferative lesions involving aberrant localized growth of capillary endothelium. Although most hemangiom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a155d872c44e4bd32428facea496ac92
https://pubmed.ncbi.nlm.nih.gov/9916848
https://pubmed.ncbi.nlm.nih.gov/9916848
Autor:
C, Ríus, J D, Smith, N, Almendro, C, Langa, L M, Botella, D A, Marchuk, C P, Vary, C, Bernabéu
Publikováno v:
Blood. 92(12)
Endoglin (CD105) is a cell surface component of the transforming growth factor-beta (TGF-beta) receptor complex highly expressed by endothelial cells. Mutations in the endoglin gene are responsible for the hereditary hemorrhagic telangiectasia type 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e73170aaa32be44e6f31401d4fe94db0
https://pubmed.ncbi.nlm.nih.gov/9845534
https://pubmed.ncbi.nlm.nih.gov/9845534