Zobrazeno 1 - 10
of 38
pro vyhledávání: '"L. Al-Olabi"'
Autor:
Satyamaanasa Polubothu, Samira Syed, Regina Fölster-Holst, M. Glover, Georgios Eleftheriou, L. Al-Olabi, Sarah E. Aylett, Anna C. Thomas, Veronica A. Kinsler, Antonio Torrelo, Debra Lomas, Martin Tisdall, Monika Tasani, Elizabeth A. Jones, Alisha Chacko, Maria Carmen del Boente, David Jiménez-Gallo
Publikováno v:
Journal of Investigative Dermatology. 140:1110-1113
Autor:
Daniël A. Lionarons, Davide Zecchin, Jeffrey R. MacDonald, Wei-Li Di, Hui Chen, Miriam Molina, Stuart Horswell, Gemma Tell, Véronique Bataille, Dale Bryant, Julia Newton-Bishop, Philip Stanier, Gudrun E. Moore, Kiran Parmar, Josep Malvehy, Catherine A. Harwood, Satyamaanasa Polubothu, Cristina Carrera, Jérémie Nsengimana, Veronica A. Kinsler, Julian Downward, Nathan Wlodarchak, Alan Pittman, Susana Puig, Yongna Xing, Neil J. Sebire, Anna C. Thomas, Mark Harland, L. Al-Olabi, Mehdi Zarrei, Michael Howell, Sarah Brand, Paulina Stadnik, Stephen W. Scherer, Lilian Hunt, Eugene Healy, Dale Moulding, Paula Aguilera, J.A. Puig-Butillé, Deborah Morrogh, Vanessa Martins da Silva, Sam Loughlin, Regula Waelchli, Sara Martin Barberan, Greg Elgar, Lionel Larue
Publikováno v:
Genetics in medicine, 23(9), 1636-1647. Lippincott Williams and Wilkins
Genetics in Medicine
Genetics in Medicine
Purpose\ud Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.\ud \ud Methods\ud Whole-genome copy-number findings in patients with melanoma predisposition syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf020b972091ef0da9c25d686d2a0a5
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html
Autor:
L. Al-Olabi, Jane Chalker, Justine O'Hara, David A. Lomas, Neil W. Bulstrode, N. McGuire, Veronica A. Kinsler, Juling Ong, W. Baird, Dyanne Rampling, D. Josifova, Neil J. Sebire, E. Wedgeworth, Anna C. Thomas, Satyamaanasa Polubothu, Paulina Stadnik
Publikováno v:
The British Journal of Dermatology
Summary Background Genotype–phenotype studies can identify subgroups of patients with specific clinical features or differing outcomes, which can help shape management. Objectives To characterize the frequency of different causative genotypes in co
Autor:
Neil J. Sebire, Anna C. Thomas, Neil W. Bulstrode, E. Wedgeworth, D. Josifova, Juling Ong, Dyanne Rampling, Satyamaanasa Polubothu, David A. Lomas, Paulina Stadnik, L. Al-Olabi, W. Baird, N. McGuire, Jane Chalker, Veronica A. Kinsler, Justine O'Hara
Publikováno v:
British Journal of Dermatology. 182
Autor:
S. Polubothu, N. McGuire, L. Al‐Olabi, W. Baird, N. Bulstrode, J. Chalker, D. Josifova, D. Lomas, J. O'Hara, J. Ong, D. Rampling, P. Stadnik, A. Thomas, E. Wedgeworth, N.J. Sebire, V.A. Kinsler
Publikováno v:
British Journal of Dermatology. 182
Autor:
Gemma Tell, Michael Howell, L. Al-Olabi, Julia Newton-Bishop, Josep Malvehy, Susana Puig, Mark Harland, Lilian Hunt, Yongna Xing, Sam Loughlin, Jérémie Nsengimana, Gudrun E. Moore, Regula Waelchli, Lionel Larue, Veronica A. Kinsler, Wei-Li Di, Julian Downward, Anna C. Thomas, Dale Bryant, Catherine A. Harwood, Daniël A. Lionarons, Dale Moulding, Paula Aguilera, Satyamaanasa Polubothu, Greg Elgar, Sarah Brand, Eugene Healy, Cristina Carrera, Philip L. Beales, Paulina Stadnik, Davide Zecchin, Vanessa Martins da Silva, Mehdi Zarrei, Dagan Jenkins, Neil J. Sebire, Véronique Bataille, Stephen W. Scherer, Alan Pittman, Sara Martin Barberan, Juan-Anton Puig-Butillé, Deborah Morrogh, Nathan Wlodarchak, Philip Stanier, Miriam Molina, Jeffrey R. MacDonald, Stuart Horswell, Hui Chen, Kiran Parmar
The majority of the heredity of melanoma remains unexplained, however inherited copy number changes have not yet been systematically studied. The genetic environment is highly relevant to treatment stratification, and new gene discovery is therefore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e09f513bc2b8b1d8046d1663a4b98ebd
https://doi.org/10.1101/672576
https://doi.org/10.1101/672576
Autor:
Katherine Dowsett, Mark H. Lipson, M. Glover, Jean-Baptiste Rivière, Rachel G. Knox, Loshan Kangesu, Veronica A. Kinsler, Zhiqiang Zeng, Aditi Murthy, Juling Ong, Neil W. Bulstrode, Amjad Khan, Alan Pittman, Susan M Huson, Darren Hargrave, W. Baird, Alex Virasami, Gregory James, Rahul Shah, Caroline Mahon, Anda Mosica, Celia Moss, Katrina A. Andrews, Robert Semple, Justine O'Hara, Kristiana Gordon, E Elizabeth Patton, Sahar Mansour, Maja Topf, Anna Thomas, Thomas S. Jacques, Kim M. Keppler-Noreuil, Hannah Kondolf, Julie C. Sapp, Marjorie J Lindhurst, Victoria E. R. Parker, Agnel P Joseph, Alex M. Barnacle, Satyamaanasa Polubothu, Paulina Stadnik, Regula Waelchli, Neil J. Sebire, Graeme Clark, L. Al-Olabi, Bran Sivakumar, Leslie G Biesecker
Publikováno v:
Parallel session abstracts.
Background Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited and multi-disciplinary m
Autor:
L. Al-Olabi, Eugene Healy, Satyamaanasa Polubothu, Wei-Li Di, Veronica A. Kinsler, J. Downward, Julia Newton-Bishop
Publikováno v:
Journal of Investigative Dermatology. 139:S296
755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Autor:
M. Glover, Celia Moss, Robert K. Semple, Rachel G. Knox, Veronica A. Kinsler, E. Elizabeth Patton, Leslie G. Biesecker, L. Al-Olabi, K. Dowsett, Satyamaanasa Polubothu, Paulina Stadnik, W. Baird, Katrina A. Andrews, Anna C. Thomas
Publikováno v:
Journal of Investigative Dermatology. 138:S128
Autor:
W.K. Chong, I. Mushtaq, Leopold Groesser, David J. Atherton, Pierre Vabres, Veronica A. Kinsler, Hélène Aubert, Rudolf Happle, Z. Zeng, L. Bagazgoitia, Groupe de recherche de la Sfdp, Christine Chiaverini, M. Wobser, Yannis Duffourd, L. Al-Olabi, R. O'Shaughnessy, K. Forde, Anna C. Thomas, H. Hamm, Smail Hadj-Rabia, M. Glover, Sébastien Barbarot, J.-P. Lacour, E. Elizabeth Patton, J. St-Onge, Emmanuelle Bourrat, R. Waelchli, Jean-Baptiste Rivière
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 142:S469-S470
Introduction Les taches mongoliques, correspondant a une melanocytose dermique, sont frequentes a la naissance mais generalement transitoires. Elles peuvent parfois persister isolement ou en association a des angiomes plans dans les phacomatoses pigm