Results 21 to 30 of about 177,116 (201)

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

, 2001
BACKGROUND: Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor beta (TGF-beta) superfamily of receptors. Because patients with
N. Galie (7688801), M. Pauciulo (17188999), C. Atkinson (7688795), J. McGaughran (17253364), N. V. Morgan (17253370), R. C. Trembath (7628618), J. Berg (6109451), J. R. Thomson (2905727), N. W. Morrell (7688810), J. E. Loyd (7688804), I. Winship (7621277), A. Manes (17253361), M. Humbert (762823), L. Wheeler (17253367), W .C. Nichols (17253373), Rajiv Machado (17162539), G. Simonneau (7688798)   +16 more
core   +12 more sources

Hereditary hemorrhagic telangiectasia

Haematologica, 2005
A 45-year-old man with hereditary hemorrhagic telangiectasia (HHT) presented with numerous mucocutaneous telangiectases, recurrent nosebleeds, and several first degree relatives with similar symptoms. HHT has been linked to mutations in the genes endoglin and activin receptor-like kinase-1 (ALK-1), which are located on chromosome 9q33-34 and 12q13 ...
J McDonald, P Bayrak-Toydemir
doaj   +7 more sources

Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]

, 2014
25/03/14 meb. OA paper , Ok to add.Background: Pulmonary first pass filtration of particles marginally exceeding ~7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in ...
John A Livesey, Michael A. Laffan (367175), Tighe Hannah C., Richard Manning (524799), James E Jackson, James E. Jackson (524802), Gillian Angus, Tighe, HC, Meek John, Jackson James E., Gillian Angus (367169), Claire L Shovlin, Livesey, J, Basel Chamali (524796), John A. Livesey (524798), Hannah C. Tighe (524801), Laffan, MA, Basel Chamali, Vatshalan Santhirapala (524797), Jackson, JE, Meek, J, Chamali Basel, Manning Richard, Chamali, B, Michael A Laffan, Hannah C Tighe, Claire L. Shovlin (367168), Manning, R, Livesey John A., Shovlin, CL, Angus Gillian, Santhirapala, V, Santhirapala Vatshalan, John Meek, Shovlin Claire L., Vatshalan Santhirapala, Richard Manning, Laffan Michael A., John Meek (524800)   +38 more
core   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Flanagan, J A, Gruenig, E, Sankelo, M, Halme, M, Elliott, C G, Laitinen, T, Morrell, N W, Trembath, R C, Räisänen-Sokolowski, A, Olschewski, H, Harrison, R E, Robbins, I M, Kermeen, F, Abdalla, S A, Rowell, J, Machado, R D, McLaughlin, V   +16 more
core   +1 more source

Hereditary hemorrhagic telangiectasia and pregnancy: potential adverse events and pregnancy outcomes [PDF]

, 2017
Omar Bari,1 Philip R Cohen2 1School of Medicine, University of California San Diego, La Jolla, CA, USA; 2Department of Dermatology, University of California San Diego, La Jolla, CA, USA Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an ...
Cohen PR, Omar Bari, Bari O, Philip R Cohen   +3 more
core   +1 more source

The Brain in Hereditary Hemorrhagic Telangiectasia [PDF]

Stroke, 1971
While neurological symptoms are often mentioned in reports of families with hereditary hemorrhagic telangiectasia (HHT) and are frequently assumed to be due to vascular anomalies of the central nervous system, documentation of such anomalies is surprisingly rare.
T J, Reagan, W H, Bloom
openaire   +2 more sources

Arterial oxygen content is precisely maintained by graded erythrocytotic responses in settings of high/normal serum iron levels, and predicts exercise capacity: an observational study of hypoxaemic patients with pulmonary arteriovenous malformations. [PDF]

, 2014
01/04/14 MEB.
Hannah C Tighe, Tighe Hannah C., Williams Louisa C., James E Jackson, Shovlin, CL, Santhirapala, V, Santhirapala Vatshalan, Williams, LC, Tighe, HC, Jackson James E., Claire L Shovlin, Shovlin Claire L., Vatshalan Santhirapala, Jackson, JE, Louisa C Williams   +14 more
core   +1 more source

Hereditary hemorrhagic telangiectasia during pregnancy: Case report

, 2023
La telangiectasia hemorrágica hereditaria, o síndrome de Rendu-Osler-Weber, es una enfermedad vascular, hereditaria y autosómica caracterizada por telangiectasias mucocutáneas y malformaciones arteriovenosas en el pulmón, el cerebro e hígado.
Guzmán López, Abel, Treviño Montemayor, Oscar Rubén, Guzmán Pérez, Tomás Ignacio, Soria López, Juan Antonio, Trejo Guzmán, Esthela Janet   +4 more
core   +1 more source

Imaging of Hereditary Hemorrhagic Telangiectasia [PDF]

CardioVascular and Interventional Radiology, 2008
This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous ...
Carette, Marie-France, Nedelcu, Cosmina, Tassart, Marc, Grange, Jean-Didier, Wislez, Marie, Khalil, Antoine   +5 more
openaire   +2 more sources

Angiogenesis, hereditary hemorrhagic telangiectasia and COVID-19

, 2020
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominant disease characterized by pathologic angiogenesis that provokes vascular overgrowth.
López-Wolf, Daniel, Riera-Mestre, Antoni, Moreno, Manuela, Del Castillo, Raul, Iriarte, Adriana   +4 more
core   +1 more source