Results 71 to 80 of about 5,408,282 (157)

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele

Traffic, Volume 25, Issue 1, January 2024.
The formation of heterodimers between ER‐retained endoglin mutants and WT endoglin impairs WT maturation and trafficking to the plasma membrane. Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder affecting 1 in 5000–8000 individuals.
Nesrin Gariballa, Sally Badawi, Bassam R. Ali   +2 more
wiley   +1 more source

Síndrome de Osler-Weber-Rendu

, 2009
Tres imágenes de un síndrome de Osler-Weber-Rendu.Three pictures of a Osler-Weber-Rendu ...
Iglesias Rozas, José Rafael, 1942-
core  

Osler Weber Rendu Disease ( A Case Report)

Eurasian Journal of Medicine, 2019
-
Nihat Okçu, Ahmet Yıldız, İsmet Dindar, Hüseyin Şenocak   +3 more
doaj  

PREGNANCY AND HERITABLE CONNECTIVE TISSUE DISORDERS (MARFAN SYNDROME, EHLERS DANLOS SYNDROME, OSLER-WEBER-RENDU DISEASE)

Акушерство, гинекология и репродукция, 2016
The article describes some inherited disorders (Marfan syndrome, Ehlers-Danlos syndrome, Osler-Weber-Rendu disease) that affects the connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems during the pregnancy.
L. S. Radetskaya
doaj   +1 more source

A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension

Case Reports in Gastrointestinal Medicine, Volume 2024, Issue 1, 2024.
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a vascular disorder of autosomal dominant etiology. The hallmark clinical feature is the presence of recurrent episodes of epistaxis in patients with vascular malformations and a tendency to bleed.
Denisse Morales-Tovar, Froylan D. Martínez-Sánchez, Alejandro Gabutti-Thomas, Rodolfo Rivera-Martínez, Jacqueline Córdova-Gallardo, Yoshihiro Moriwaki   +5 more
wiley   +1 more source

Osler-Weber-Rendu sendromu ile ilişkili pulmoner arteriyovenöz malformasyon

, 2011
Osler-Weber-Rendu syndrome is a relatively common vascular displasia of children presented with telengiectasias of skin, mucosa, and visceral organs and arteriovenous malformations.
Aygün Dindar, Kemal Nişli, Ergul, Yakup, Dindar, Aygun, Nisli, Kemal, Yakup Ergül   +5 more
core   +1 more source

Síndrome Rendu-Osler-Weber como causa de sangrado digestivo alto. Presentación de un caso y revisión de la literatura

Revista Finlay, 2015
Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder of the walls of the blood vessels that become tortuous and dilated. Clinically, patients with this disease develop recurrent bleeding, which may occur spontaneously or following ...
Rodolfo Morales Valdés, Mario Orlando Hernández Cubas, Mailyn Acosta Álvarez, Javier Cruz Rodríguez, Joel Ramos Rodríguez, Yohny Calle Caspa   +5 more
doaj   +2 more sources

Hereditary Hemorrhagic Telangiectasia - a literature review

Journal of Education, Health and Sport
Introduction and purpose: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare and complex vascular disorder characterized by abnormal blood vessel formation.
Marcel Stodolak, Aleksandra Krużel, Kamil Kłos, Piotr Sajdak, Justyna Tomasik, Marika Dębik, Łukasz Szydłowski, Klaudia Żurowska, Seweryn Ziajor, Artur Bednarski, Mikołaj Turski   +10 more
doaj   +1 more source

Lobectomy for Pulmonary Arteriovenous Fistula in a Patient With Rendu-Osler-Weber Disease: A Case Report. [PDF]

In Vivo, 2023
Ishikawa T, Takamori S, Kohno M, Miura N, Takenaka T, Yoshizumi T.   +5 more
europepmc   +1 more source

Pictorial essay: Multidetector CT of hepatic artery pathologies

Journal of the Belgian Society of Radiology, 2012
The hepatic artery can be involved by a variety of pathology and diseases. Today MDCT enables high quality imaging of the hepatic artery using axial, MIP and volume rendered images.
D Karaosmanoglu, B Erol, M Karcaaltincaba   +2 more
doaj   +1 more source