Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Avgi, Andreou"'
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Akademický článek
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery
Autor: Katherine S. Josephs, Eleanor G. Seaby, Philippa May, Pantazis Theotokis, Jing Yu, Avgi Andreou, Hannah Sinclair, Deborah Morris-Rosendahl, Ellen R. A. Thomas, Sarah Ennis, Angharad M. Roberts, James S. Ware
Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-22 (2024)
Abstract Background Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond convent
Externí odkaz: https://doaj.org/article/b985ecbe203c455f8e325fbb9ff526b4
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2
Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease
Autor: Avgi, Andreou, Bryndis, Yngvadottir, Laia, Bassaganyas, Graeme, Clark, Ezequiel, Martin, James, Whitworth, Alex J, Cornish, Richard S, Houlston, Philip, Rich, Catherine, Egan, Shirley V, Hodgson, Anne Y, Warren, Katie, Snape, Eamonn R, Maher
Publikováno v: Human Molecular Genetics. 31:2728-2737
Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel–Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the E3 ubiquitin ligase complex
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed2dbac6ae84910bf40ffce69ccc2d1
https://doi.org/10.1093/hmg/ddac066
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3
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
Autor: Prabhu Arumugam, Anthony McGuigan, James Whitworth, Marta Bleda, Arianna Tucci, Tom Fowler, Avgi Andreou
Publikováno v: European Journal of Human Genetics. 30:265-270
Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility genes(CSGs). With increased use of exome/genome sequencing it would be predicted that detection of MI
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bef0d79a77019eadbe06a8f6981f2065
https://doi.org/10.1038/s41431-021-01013-6
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5
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases
Autor: Bryndis Yngvadottir, Avgi Andreou, Laia Bassaganyas, Alexey Larionov, Alex J Cornish, Daniel Chubb, Charlie N Saunders, Philip S Smith, Huairen Zhang, Yasemin Cole, Genomics England Research Consortium, James Larkin, Lisa Browning, Samra Turajlic, Kevin Litchfield, Richard S Houlston, Eamonn R Maher
Publikováno v: Human molecular genetics. 31(17)
Renal cell carcinoma (RCC) occurs in a number of cancer predisposition syndromes, but the genetic architecture of susceptibility to RCC is not well defined. We investigated the frequency of pathogenic and likely pathogenic (P/LP) germline variants in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eae18168d8a1114a78db33ca31f70fdb
https://pubmed.ncbi.nlm.nih.gov/35441217
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6
Seventh BHD international symposium: recent scientific and clinical advancement
Autor: Mark R. Woodford, Avgi Andreou, Masaya Baba, Irma van de Beek, Chiara Di Malta, Iris Glykofridis, Hannah Grimes, Elizabeth P. Henske, Othon Iliopoulos, Masatoshi Kurihara, Romain Lazor, W. Marston Linehan, Kenki Matsumoto, Stefan J. Marciniak, Yukiko Namba, Arnim Pause, Neil Rajan, Anindita Ray, Laura S. Schmidt, Wei Shi, Ortrud K. Steinlein, Julia Thierauf, Roberto Zoncu, Anna Webb, Mehdi Mollapour
Publikováno v: Oncotarget, 13(1), 173-181. Impact Journals
Oncotarget
Oncotarget, vol. 13, pp. 173-181
Woodford, M R, Andreou, A, Baba, M, van de Beek, I, Malta, C D, Glykofridis, I, Grimes, H, Henske, E P, Iliopoulos, O, Kurihara, M, Lazor, R, Linehan, W M, Matsumoto, K, Marciniak, S J, Namba, Y, Pause, A, Rajan, N, Ray, A, Schmidt, L S, Shi, W, Steinlein, O K, Thierauf, J, Zoncu, R, Webb, A & Mollapour, M 2022, ' Seventh BHD international symposium : recent scientific and clinical advancement ', Oncotarget, vol. 13, no. 1, pp. 173-181 . https://doi.org/10.18632/ONCOTARGET.28176
The 7th Birt-Hogg-Dubé (BHD) International Symposium convened virtually in October 2021. The meeting attracted more than 200 participants internationally and highlighted recent findings in a variety of areas, including genetic insight and molecular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f02a8383a9b6087664aaf7a213d8165
https://research.vumc.nl/en/publications/35a5e841-a617-4b7f-bf31-15bfe5c86a78
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7
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Autor: Stéphane Bézieau, Médéric Jeanne, Anne Sophie Denommé-Pichon, Jason Laufman, William B. Dobyns, Sébastien Küry, Judith Halewa, Elliott H. Sherr, Dominique Bonneau, Julie Vogt, Sophie Blesson, Hélène Demory, Jérôme Honnorat, Helene Cox, Séverine Audebert-Bellanger, Marie Laure Vuillaume, Sylviane Marouillat, Estelle Colin, Avgi Andreou, Emanuela Argilli, Bertrand Isidor, Bernhard Lohkamp, Miroslava Hancarova, Rajesh Khanna, Davit Babikyan, Sarka Bendova, Kimberly A. Aldinger, Aubin Moutal, Saskia M. Maas, Marjon van Slegtenhorst, Annick Toutain, Sylvie Odent, Rose Anne Thépault, Natella Kostandyan, Eleina M. England, Zdenek Sedlacek, Richard Redon, M. Mahdi Motazacker, Frédéric Laumonnier, Brigitte Gilbert-Dussardier, Grazia M.S. Mancini
Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, 108(5), 951-961. Cell Press
American journal of human genetics, vol 108, iss 5
Am J Hum Genet
American journal of human genetics, 108(5), 951-961. Cell Press
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66e0d64a2aebf8eb64fc4124a065ea
https://hal.science/hal-03221134
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8
Polycystic ovary syndrome: insight into pathogenesis and a common association with insulin resistance
Autor: Stephen Franks, George K. Dimitriadis, Thomas M. Barber, Avgi Andreou
Publikováno v: s76
s72
Polycystic ovary syndrome (PCOS) is a common condition that typically develops in reproductive-age women. The cardinal clinical and biochemical characteristics of PCOS include reproductive dysfunction and hyperandrogenic features. PCOS is also strong
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::647d798d4f19512772e5d690ca406147
https://doi.org/10.7861/clinmedicine.15-6-s72
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9
Clinical Relevance of Donor-Specific IgM Antibodies in HLA Incompatible Renal Transplantation: A Retrospective Single-Center Study
Autor: Adarsh, Babu, Avgi, Andreou, David, Briggs, Nithya, Krishnan, Rob, Higgins, Dan, Mitchell, Tom, Barber, Sunil, Daga
Publikováno v: Clinical transplants. 32
Immunoglobulin G (IgG) antibodies against donor human leukocyte antigens (HLA) are monitored in the pre-and post-transplant period due to their established role in predicting rejection and renal allograft survival. However, the role of immunoglobulin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::76e79d9318e54873f9d12930ee7601fa
https://pubmed.ncbi.nlm.nih.gov/28564535
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