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  • Molecular and Cellular Char... Molecular and Cellular Characterization of Primary Endothelial Cells from a Familial Cavernomatosis Patient
    Lorente-Herraiz, Laura; Cuesta, Angel M; Granado, Jaime ... International journal of molecular sciences, 04/2024, Volume: 25, Issue: 7
    Journal Article
    Peer reviewed
    Open access

    Cerebral cavernous malformation (CCM) or familial cavernomatosis is a rare, autosomal dominant, inherited disease characterized by the presence of vascular malformations consisting of blood vessels ...
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  • The Role of Propranolol as ... The Role of Propranolol as a Repurposed Drug in Rare Vascular Diseases
    Cuesta, Angel M; Gallardo-Vara, Eunate; Casado-Vela, Juan ... International journal of molecular sciences, 04/2022, Volume: 23, Issue: 8
    Journal Article
    Peer reviewed
    Open access

    Rare Diseases (RD) are defined by their prevalence in less than 5 in 10,000 of the general population. Considered individually, each RD may seem insignificant, but together they add up to more than ...
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  • CLN5 in heterozygosis may p... CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
    de Rojas-P, Isabel; Albiñana, Virginia; Recio-Poveda, Lucía ... Orphanet journal of rare diseases, 06/2020, Volume: 15, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present ...
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  • SARS-CoV-2 Infection in Her... SARS-CoV-2 Infection in Hereditary Hemorrhagic Telangiectasia Patients Suggests Less Clinical Impact Than in the General Population
    Marcos, Sol; Albiñana, Virginia; Recio-Poveda, Lucia ... Journal of clinical medicine, 04/2021, Volume: 10, Issue: 9
    Journal Article
    Peer reviewed
    Open access

    At the moment of writing this communication, the health crisis derived from the COVID-19 pandemic has affected more than 120 million cases, with 40 million corresponding to Europe. In total, the ...
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  • Raloxifene and n-Acetylcyst... Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa
    Aguado, Tania; García, Marta; García, Adela ... Cells, 09/2020, Volume: 9, Issue: 9
    Journal Article
    Peer reviewed
    Open access

    Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disease caused by mutation of the gene. RDEB is associated with high levels of TGF-β1, which is likely to be involved in the ...
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  • Safety of thalidomide and b... Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia
    Buscarini, Elisabetta; Botella, Luisa Maria; Geisthoff, Urban ... Orphanet journal of rare diseases, 02/2019, Volume: 14, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide ...
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  • A Novel Splicing Mutation i... A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2
    Errasti Díaz, Suriel; Peñalva, Mercedes; Recio-Poveda, Lucía ... Journal of clinical medicine, 05/2022, Volume: 11, Issue: 11
    Journal Article
    Peer reviewed
    Open access

    Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. ...
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  • Case Report: Propranolol in... Case Report: Propranolol increases the therapeutic response to temozolomide in a patient with metastatic paraganglioma [version 1; peer review: 2 approved]
    Díaz-Castellanos, Miguel-Angel; Gómez de las Heras, Karina Villar; Díaz-Redondo, Tamara ... F1000 research, 2017, Volume: 6
    Journal Article
    Peer reviewed
    Open access

    This case report presents the clinical evolution and management of a patient with a hereditary paraganglioma syndrome. This disease is characterized by rare tumors of neural crest origin that are ...
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  • Repurposing propranolol as ... Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease
    Albiñana, Virginia; Escribano, Rosa María Jiménez; Soler, Isabel ... Orphanet journal of rare diseases, 06/2017, Volume: 12, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumours. Haemangioblastomas in the central ...
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  • Blockade of β2-Adrenergic R... Blockade of β2-Adrenergic Receptor Reduces Inflammation and Oxidative Stress in Clear Cell Renal Cell Carcinoma
    Albiñana, Virginia; Recio-Poveda, Lucía; González-Peramato, Pilar ... International journal of molecular sciences, 01/2022, Volume: 23, Issue: 3
    Journal Article
    Peer reviewed
    Open access

    Von Hippel-Lindau (VHL) syndrome is a rare inherited cancer disease where the lack of VHL protein triggers the development of multisystemic tumors such us retinal hemangioblastomas (HBs), CNS-HBs, ...
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