Search Results - "Shovlin, CL"

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia by Buscarini, Elisabetta, Botella, Luisa Maria, Geisthoff, Urban, Kjeldsen, Anette D, Mager, Hans Jurgen, Pagella, Fabio, Suppressa, Patrizia, Zarrabeitia, Roberto, Dupuis-Girod, Sophie, Shovlin, Claire L

“…Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations…”
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia by Shovlin, Claire L., Simeoni, Ilenia, Downes, Kate, Frazer, Zoe C., Megy, Karyn, Bernabeu-Herrero, Maria E., Shurr, Abigail, Brimley, Jennifer, Patel, Dilipkumar, Kell, Loren, Stephens, Jonathan, Turbin, Isobel G., Aldred, Micheala A., Penkett, Christopher J., Ouwehand, Willem H., Jovine, Luca, Turro, Ernest

“…Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Care delivery for HHT patients is impeded by the need for laborious,…”
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Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT by Bernabéu-Herrero, Maria E., Patel, Dilipkumar, Bielowka, Adrianna, Zhu, JiaYi, Jain, Kinshuk, Mackay, Ian S., Chaves Guerrero, Patricia, Emanuelli, Giulia, Jovine, Luca, Noseda, Michela, Marciniak, Stefan J., Aldred, Micheala A., Shovlin, Claire L.

“…•Loss-of-function variants generating premature termination codons associate with bleeds; RNA levels differ between replicate cell cultures.•No PTC-truncated…”
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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 by DeMille, Desiree, McDonald, Jamie, Bernabeu, Carmelo, Racher, Hilary, Olivieri, Carla, Cantarini, Claudia, Sbalchiero, Anna, Thompson, Bryony A., Jovine, Luca, Shovlin, Claire L., Dupuis-Girod, Sophie, Lesca, Gaetan, Tusseau, Maud, Ganguly, Arupa, Kasthuri, Raj S., Jessen, Jaime, Massink, Maarten P. G., Ichikawa, Shoji, Bayrak-Toydemir, Pinar

“…The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the…”
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Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu syndrome): suggested approach for obstetric services by Shovlin, CL, Sodhi, V, McCarthy, A, Lasjaunias, P, Jackson, JE, Sheppard, MN

“…Objectives  Hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5–8000 individuals. Pregnancy outcomes are rarely reported. The major reason is that most…”
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A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5 by Cole, S G, Begbie, M E, Wallace, G M F, Shovlin, C L

“…Patients with hereditary haemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) have variable presentation patterns and a high risk of preventable…”
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ClinGen HHT Variant Curation Expert Panel's Modified Variant Interpretation and Classification Guidelines by DeMille, D, McDonald, J, Bernabeu, C, Dupuis-Girod, S, Ganguly, A, Giraud, S, Ichikawa, S, Jessen, J, Jovine, L, Kasthuri, RS, Olivieri, C, van Amstel, HKP, Racher, H, Shovlin, CL, Bayrak-Toydemir, P

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Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms by Shovlin, Claire L, Letarte, Michelle

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Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century by Begbie, M E, Wallace, G M F, Shovlin, C L

“…Hereditary haemorrhagic telangiectasia (HHT) affects one in 5−8000, and no longer can be viewed as solely causing anaemia (due to nasal and gastrointestinal…”
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Pulmonary Arteriovenous Malformations: Effect of Embolization on Right-to-Left Shunt, Hypoxemia, and Exercise Tolerance in 66 Patients by Gupta, P, Mordin, C, Curtis, J, Hughes, J. M. B, Shovlin, C. L, Jackson, J. E

“…This study assessed the effect and safety of percutaneous transcatheter coil embolization of pulmonary arteriovenous malformations. In 58 (88%) of 66 patients,…”
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Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia by Govani, F.S., Giess, A., Mollet, I.G., Begbie, M.E., Jones, M.D., Game, L., Shovlin, C.L.

“…Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1…”
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Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22 061 years of HHT patient life by Easey, A J, Wallace, G M F, Hughes, J M B, Jackson, J E, Taylor, W J, Shovlin, C L

“…Background: The frequency of haemorrhage in individuals with hereditary haemorrhagic telangiectasia (HHT), 10% of whom will have cerebral arteriovenous (AV)…”
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A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1 by WALLACE, G. M. F, SHOVLIN, C. L

“…Pulmonary arteriovenous malformations (PAVMs) occur in over 25% of patients with the autosomal dominant disorder hereditary haemorrhagic telangiectasia (HHT)…”
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Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia by Shovlin, Claire L., Hughes, J.M.B., Scott, J., Seidman, Christine E., Seidman, J.G.

“…To identify mutations that cause hereditary hemorrhagic telangiectasia (HHT, or Rendu-Osler-Weber syndrome), clinical evaluations and genetic studies were…”
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Supermodels and disease: insights from the HHT mice by Shovlin, C L

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Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia by Shovlin, C L

“…Vascular diseases may mimic coagulopathies by presenting as a haemorrhagic state. The archetypal example of an inherited disorder resulting in haemorrhage from…”
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Medical complications of pregnancy in hereditary haemorrhagic telangiectasia by Shovlin, C L, Winstock, A R, Peters, A M, Jackson, J E, Hughes, J M

“…Hereditary haemorrhagic telangiectasia (HHT) displays significant variation in severity between affected individuals in the same family, ranging from…”
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Genetic analysis of susceptibility to experimental autoimmune encephalomyelitis in a cross between SJL/J and B10.S mice by Encinas, JA, Lees, MB, Sobel, RA, Symonowicz, C, Greer, JM, Shovlin, CL, Weiner, HL, Seidman, CE, Seidman, JG, Kuchroo, VK

“…Experimental autoimmune encephalomyelitis (EAE), a model for human multiple sclerosis, is a T cell-mediated autoimmune disease that can be induced in…”
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A gene for primary pulmonary hypertension by Wilkins, MR, Gibbs, JSR, Shovlin, CL

“…BMPR-II is an interesting protein to be implicated so strongly in the pathogenesis of disease. It is a cell-surface receptor belonging to the superfamily of…”
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Alveolar macrophage activity and the pulmonary complications of haematopoietic stem cell transplantation by Whittle, A T, Davis, M, Shovlin, C L, Ganly, P S, Haslett, C, Greening, A P

“…BACKGROUND The success of haematopoietic (bone marrow or peripheral blood) stem cell transplantation (SCT) is compromised by pulmonary complications. We…”
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