Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Eammon Sheridan"'
Autor:
Belén Pérez‐Dueñas, Kathleen Gorman, Anna Marcé‐Grau, Juan D. Ortigoza‐Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Publikováno v:
Scientia
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Background and Objective: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. Methods: Patients were recruited from 14 internat
Autor:
Malcolm Taylor, Ian Tomlinson, Eve Roman, Fay J. Hosking, Tracy Lightfoot, Sally E. Kinsey, Mel Greaves, Elli Papaemmanuil, Richard S. Houlston, Julie Irving, James M. Allan, Eammon Sheridan
Publikováno v:
Blood. 115:4472-4477
Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated with an increased risk of de
Autor:
Tracy Lightfoot, Bianca Olver, Malcolm Taylor, Eve Roman, James M. Allan, Fay J. Hosking, Amy Price, Richard S. Houlston, Jayaram Vijayakrishnan, Mel Greaves, Julie Irving, Elli Papaemmanuil, Eammon Sheridan, Ian Tomlinson, Sally E. Kinsey
Publikováno v:
Nature genetics
To identify risk variants for childhood acute lymphoblastic leukemia (ALL), we conducted a genome-wide association study of two case-control series, analyzing the genotypes with respect to 291,423 tagging SNPs in a total of 907 ALL cases and 2,398 co
Autor:
Daniel Amram, Olivier Delattre, Nicolas Sevenet, Rupert Handgretinger, Pascale Schneider, Eammon Sheridan
Publikováno v:
The American Journal of Human Genetics. 65(5):1342-1348
SummaryBiallelic, truncating mutations of the hSNF5/INI1 gene have recently been documented in malignant rhabdoid tumor (MRT), one of the most aggressive human cancers. This finding suggests that hSNF5/INI1 is a new tumor-suppressor gene for which ge
Publikováno v:
British Journal of Ophthalmology. 91:983-984
Coats disease is an uncommon telangiectatic retinal exudation that is most often seen in males. Similar changes are an uncommon but well known complication of retinitis pigmentosa, occurring in up to 3.6% of the affected individuals.1 This associatio
Autor:
Eammon Sheridan, Malcolm G. Dunlop, Barbara A. Leggett, Walter F. Bodmer, Joanne P. Young, K Neale, Richard S. Houlston, Ian Tomlinson, Charis Eng, David Markie, Steve Bevan, Shirley Hodgson, Kelly Woodford-Richens, Miguel A. Rodriguez-Bigas, Paul Rozen, R. K. S. Phillips, Takeo Iwama, D. Eccles
Publikováno v:
ResearcherID
Scopus-Elsevier
Scopus-Elsevier
BACKGROUND AND AIMSJuvenile polyps occur in several Mendelian disorders, whether in association with gastrointestinal cancer alone (juvenile polyposis syndrome, JPS) or as part of known syndromes (Cowden, Gorlin, and Bannayan-Zonana) in association w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d256bdf845106c7233f493198f1cca5
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000082203200022&KeyUID=WOS:000082203200022
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000082203200022&KeyUID=WOS:000082203200022