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Case of Osler-Weber-Rendu Syndrome Complicated with Nasal Septum Perforation

Autor: Odgerel Tsogbadrakh, Injinaash Ogoosambuu, Layala Jukhai, Munkhhbaatar Davaasumberel, Khatanbaatar Alexandr

Publikováno v: Central Asian Journal of Medical Sciences, Vol 6, Iss 1, Pp 379-383 (2020)

Objectives: Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) is a rare autosomal dominant disorder characterized by multiple mucocutaneous telangiectasias and visceral arteriovenous malformations. We report the first case of Randu-Os

Externí odkaz: https://doaj.org/article/6b79d20576e340d9beec3280d3d6e3a5

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Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations

Autor: Chen Zhang, Chunmei Piao, Xinyu Zhang, Hongsheng Zhang, Hong Gu, Qiangqiang Li

Publikováno v: Pulmonary Circulation

Pulmonary arterial hypertension is a kind of heart and lung vascular disease with low incidence and poor prognosis. Genetic variants are the important factors of pulmonary arterial hypertension. The mutations of activin receptor-like kinase-1 (ACVRL1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::784a1e8cf3ec7f0538490699352cc607
https://doi.org/10.1177/20458940211044577

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Intractable bleeding from the renal pelvis in a patient with hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease)

Autor: O J Grøtta, C Hammarström, Eduard Baco, L F Qvigstad

Publikováno v: Scandinavian Journal of Urology. 54:449-451

The patient was a 68-year-old female with a confirmed genetic diagnosis of HHT (mutation in the ACVRL1 gene) with a strong family history of the disease. She had typical manifestations of telangiec...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acea9d7ddaa1214c0251c874b0c2998c
https://doi.org/10.1080/21681805.2020.1798505

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Akademický článek

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An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis

Autor: Caterina De Luca, Jacques Jani, Dominique A. Badr, Teresa Cos Sanchez, Valérie Segers, Kathelijn Keymolen, Elisa Bevilacqua, Mieke Cannie

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curacao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ebd412f291f87f8ed80a99cd9a086a
https://doi.org/10.1002/ajmg.a.61535

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Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family

Autor: Ana Protzel, Ada Chávez-Gil, María Luisa Guevara-Fujita, Luis Venegas-Tresierra, Milagros M. Dueñas-Roque, Alexis Murillo, Verónica Ángeles-Villalba, Alejandro Zevallos-Morales, Ricardo Fujita, Miguel Guevara-Cruz

Publikováno v: Repositorio Académico USMP
Universidad San Martín de Porres-USMP
USMP-Institucional
Universidad de San Martín de Porres
instacron:USMP
Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 43, Issue: 1, Article number: e20190126, Published: 27 FEB 2020
Genetics and Molecular Biology, Vol 43, Iss 1 (2020)

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244c4c541935423971b4c0a6a88ff719

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Two Novel ENG Pathogenic Variations and Genotype-Phenotype Correlations in Hereditary Hemorrhagic Telangiectasia Patients

Autor: Ahmet Muzaffer Demir, Mehmet Baysal, Ufuk Demirci, Selma Demir, Elif Gülsüm Ümit, Volkan Baş, Sedanur Karaman Gulsaran, Hakki Onur Kirkizlar, Hakan Gurkan

Publikováno v: Balkan Medical Journal.

Aims Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes. In this study, we present our d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9fd11b3f2297ea0e124ceadc2b3aa835
https://doi.org/10.4274/balkanmedj.galenos.2019.2019.7.2

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