Results 81 to 90 of about 9,783 (206)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study [PDF]

open access: yes, 2015
OBJECTIVES: Studies report that the risks of significant neurologic complications (including stroke, cerebral abscess, and migraine) and hemorrhagic sequelae are high in patients with hereditary hemorrhagic telangiectasia (HHT), and that life ...
Donaldson, J.W.   +4 more
core   +1 more source

The Regulation and Function of Hippo/YAP Pathway in Cancer

open access: yesThe FASEB Journal, Volume 40, Issue 7, 15 April 2026.
Hippo/YAP pathway signaling plays critical roles in the progression of multiple cancer types. This review summarizes current knowledge of Hippo/YAP pathway regulation and function in cancer. We discuss the core components of the Hippo/YAP pathway; its crosstalk with other signaling pathways; regulation by non‐coding RNAs; roles of YAP signaling in ...
Chinmoy Ghosh   +3 more
wiley   +1 more source

Malformações arteriovenosas pulmonares: Associação a telangiectasia hemorrágica hereditária Casos clínicos e rastreio familiar Pulmonary arteriovenous malformations: Association with hereditary hemorrhagic telangiectasia. Clinical cases and family screening

open access: yesRevista Portuguesa de Pneumologia, 2006
As malformações arteriovenosas pulmonares são raras e mais de metade dos casos surgem em associação a telangiectasia hemorrágica hereditária. Faz-se uma revisão teórica sobre a apresentação clínica, abordagem diagnóstica, terapêutica e prognóstico destas
Diva Ferreira   +5 more
doaj  

Telangiectasia hemorrágica hereditaria Hereditary hemorrhagic telangiectasia

open access: yesMedisan, 2009
Se presenta el caso de una paciente de 52 años de edad, con antecedentes de hipertensión arterial desde hace cinco años, que acudió a consulta por presentar sangrado a nivel de la lengua en reiteradas ocasiones, desencadenados por pequeños traumatismos ...
Raymundo Rafael Fernández Díaz   +2 more
doaj  

Congenital pulmonary arteriovenous malformation: a rare cause of cyanosis in childhood [PDF]

open access: yes, 2010
Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis.
Mohammad Hassan Nezafati   +3 more
core   +2 more sources

Future treatments for hereditary hemorrhagic telangiectasia

open access: yesOrphanet Journal of Rare Diseases, 2020
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000–8000 individuals worldwide.
Florian Robert   +4 more
doaj   +1 more source

Peliosis hepatis. Personal experience and literature review [PDF]

open access: yes, 2015
Peliosis hepatis (PH) is a disease characterized by multiple and small, blood-filled cysts within the parenchymatous organs. PH is a very rare disease, more common in adults, and when it affects the liver, it comes to the surgeon’s attention only in ...
Crocetti, Daniele   +5 more
core   +1 more source

Genetic testing for hereditary hemorrhagic telangiectasia

open access: yesThe EuroBiotech Journal, 2018
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain.
Rakhmanov Yeltay   +8 more
doaj   +1 more source

Benefits of Treating Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Retrospective Analysis of 14 Patients

open access: yesWorld Neurosurgery: X, 2019
Background: Arteriovenous malformations (AVMs) are a cardinal feature of hereditary hemorrhagic telangiectasia (HHT). However, whether to treat brain AVMs in patients with HHT remains questionable because of the possible risks.
M. Neil Woodall   +2 more
doaj   +1 more source

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