Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Deborah Morris‑Rosendahl"'
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
Autor:
M Yousuf Salmasi, Shehani Alwis, Shabnam Cyclewala, Omar A. Jarral, Heba Mohamed, David Mozalbat, Christoph A. Nienaber, Thanos Athanasiou, Deborah Morris-Rosendahl, James Moore Jr, Yun Xu, John Pepper, Declan O'Regan, Jan-Lukas Robertus, Aung Oo, Sumesh Sasidharan, Selene Pirola, Michael Sabetai, Richard Gibbs, Rakesh Uppal
Publikováno v:
Hellenic Journal of Cardiology, Vol 69, Iss , Pp 41-50 (2023)
The expansion in the repertoire of genes linked to thoracic aortic aneurysms (TAA) has revolutionised our understanding of the disease process. The clinical benefits of such progress are numerous, particularly helping our understanding of non-syndrom
Externí odkaz:
https://doaj.org/article/78e93651fb124614b90d214b79574a22
Autor:
Anca Nastase, Amit Mandal, Shir Kiong Lu, Hima Anbunathan, Deborah Morris-Rosendahl, Yu Zhi Zhang, Xiao-Ming Sun, Spyridon Gennatas, Robert C. Rintoul, Matthew Edwards, Alex Bowman, Tatyana Chernova, Tim Benepal, Eric Lim, Anthony Newman Taylor, Andrew G. Nicholson, Sanjay Popat, Anne E. Willis, Marion MacFarlane, Mark Lathrop, Anne M. Bowcock, Miriam F. Moffatt, William O. C. M. Cookson
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Pleural mesothelioma is an aggressive malignancy with limited effective therapies. In order to identify therapeutic targets, we integrated SNP genotyping, sequencing and transcriptomics from tumours and low-passage patient-derived cells. Pre
Externí odkaz:
https://doaj.org/article/f4c03b22d13e4a60887cc31103bca100
Autor:
Ravi J. Amin, Deborah Morris-Rosendahl, Mat Edwards, Upasana Tayal, Rachel Buchan, Daniel J. Hammersley, Richard E. Jones, Sabiha Gati, Zohya Khalique, Batool Almogheer, Dudley J. Pennell, Arun John Baksi, Antonis Pantazis, James S. Ware, Sanjay K. Prasad, Brian P. Halliday
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
BackgroundGuidelines recommend genetic testing and cardiovascular magnetic resonance (CMR) for the investigation of dilated cardiomyopathy (DCM). However, the incremental value is unclear. We assessed the impact of these investigations in determining
Externí odkaz:
https://doaj.org/article/83451483d5b64dff9239d02b24896315
Autor:
Anca Nastase, Amit Mandal, Shir Kiong Lu, Hima Anbunathan, Deborah Morris‑Rosendahl, Yu Zhi Zhang, Xiao‑Ming Sun, Spyridon Gennatas, Robert C. Rintoul, Matthew Edwards, Alex Bowman, Tatyana Chernova, Tim Benepal, Eric Lim, Anthony Newman Taylor, Andrew G. Nicholson, Sanjay Popat, Anne E. Willis, Marion MacFarlane, Mark Lathrop, Anne M. Bowcock, Miriam F. Moffatt, William O. C. M. Cookson
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/64137690744647169fd468ce09fed777
Autor:
M Yousuf, Salmasi, Deborah, Morris-Rosendahl, Omar A, Jarral, Ulrich, Rosendahl, George, Asimakopoulos, Shahzad, Raja, Jose Antonio, Aragon-Martin, Anne, Child, John, Pepper, Aung, Oo, Thanos, Athanasiou
Publikováno v:
International Journal of Cardiology. 366:1-9
This study aims to identify the clinical utility of targeted-genetic sequencing in a cohort of patients with TAA and establish a new method for regional histological characterisation of TAA disease.Fifty-four patients undergoing surgery for proximal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b022545200a3ff23435badb0d4b0e51
https://doi.org/10.1016/j.ijcard.2022.07.010
https://doi.org/10.1016/j.ijcard.2022.07.010
Autor:
Deborah Morris-Rosendahl
with other laboratory and clinical investigations. Early and accurate diagnosis of inherited conditions generally leads to better medical care for patients and their families, with improved knowledge of the natural history of the condition and early
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28b50e64e83c6049a0b8f89a4969b4db
https://doi.org/10.22541/au.168417004.45797725/v1
https://doi.org/10.22541/au.168417004.45797725/v1
Autor:
Lydia Hanna, Richard G.J. Gibbs, Thanos Athanasiou, James Moore, Xiao Yun Xu, Christoph Nienaber, John Pepper, Declan O'Regan, Jan-Lukas Robertus, Deborah Morris-Rosendahl, Aung Oo, Sumesh Sasidharan, Selene Pirola, M. Yousuf Salmasi, Omar Jarral, Michael Sabetai, George Asimakopoulos, Richard Gibbs, Rakesh Uppal
Publikováno v:
European Journal of Vascular and Endovascular Surgery.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8d1e54fcfd5ef58ed7827734dfb2cfb
https://doi.org/10.1016/j.ejvs.2023.03.048
https://doi.org/10.1016/j.ejvs.2023.03.048
Autor:
Evelina, Carapancea, Marie-Coralie, Cornet, Mathieu, Milh, Lucrezia, De Cosmo, Eric J, Huang, Tiziana, Granata, Pasquale, Striano, Berten, Ceulemans, Anja, Stein, Deborah, Morris-Rosendahl, Greta, Conti, Nipa, Mitra, F Lucy, Raymond, David H, Rowitch, Roberta, Solazzi, Fabiana, Vercellino, Paola, De Liso, Gianluca, D'Onofrio, Clementina, Boniver, Olivier, Danhaive, Katherine, Carkeek, Vincenzo, Salpietro, Sarah, Weckhuysen, Marny, Fedrigo, Annalisa, Angelini, Barbara, Castellotti, Damien, Lederer, Valerie, Benoit, Federico, Raviglione, Renzo, Guerrini, Robertino, Dilena, Maria Roberta, Cilio
Publikováno v:
Neurology
BACKGROUND AND OBJECTIVES: BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis. METHODS: Through a multination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d587826c6eb7d87fdbd51eb1e1e4b42b
https://pubmed.ncbi.nlm.nih.gov/36599696
https://pubmed.ncbi.nlm.nih.gov/36599696
Autor:
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J. Huang, Tiziana Granata, Pasquale Striano, Berten Ceulemans, Anja Stein, Deborah Morris-Rosendahl, Greta Conti, Nipa Mitra, F. Lucy Raymond, David H. Rowitch, Roberta Solazzi, Fabiana Vercellino, Paola De Liso, Gianluca D'Onofrio, Clementina Boniver, Olivier Danhaive, Katherine Carkeek, Vincenzo Salpietro, Sarah Weckhuysen, Marny Fedrigo, Annalisa Angelini, Barbara Castellotti, Damien Lederer, Valerie Benoit, Federico Raviglione, Renzo Guerrini, Robertino Dilena, Maria Roberta Cilio
Publikováno v:
Neurology
Neurology, vol 100, iss 12
Neurology, vol 100, iss 12
Background and ObjectivesBRAT1encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis.MethodsThrough a multinational col
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4cd442a416c486ed53726277bcfbd7
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85150387701
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85150387701