Zobrazeno 1 - 10
of 73
pro vyhledávání: '"A E, Shrimpton"'
Autor:
Beata Fonferko-Shadrach, Huw Strafford, Carys Jones, Russell A. Khan, Sharon Brown, Jenny Edwards, Jonathan Hawken, Luke E. Shrimpton, Catharine P. White, Robert Powell, Inder M. S. Sawhney, William O. Pickrell, Arron S. Lacey
Publikováno v:
Journal of Biomedical Semantics, Vol 15, Iss 1, Pp 1-5 (2024)
Abstract Background Natural language processing (NLP) is increasingly being used to extract structured information from unstructured text to assist clinical decision-making and aid healthcare research. The availability of expert-annotated documents f
Externí odkaz:
https://doaj.org/article/92eaf5cec1324a318012a2f857b62a25
Autor:
M. B. de Macedo, M. R. Benso, K. S. Sass, E. M. Mendiondo, G. J. da Silva, P. G. C. da Silva, E. Shrimpton, T. Sarmah, D. Huo, M. Jacobson, A. Konak, N. Balta-Ozkan, A. C. Nardocci
Publikováno v:
Natural Hazards and Earth System Sciences, Vol 24, Pp 2165-2173 (2024)
This paper describes the process of creating a global survey of experts to evaluate drought resilience indicators. The lessons learned include five main points: (1) the heterogeneity in the conceptual background should be minimized before the constru
Externí odkaz:
https://doaj.org/article/6eb94709fec646178181e415dba242d4
Autor:
David Craig, Justine Coppinger, Joshua L. Goldstein, Dean Sarco, Robert G. Little, John A. Kessler, Joe J. Hoo, Brad Angle, David J. Mathison, William B. Dobyns, Alexander G. Bassuk, Ajit Chary, Ali Jalali, Sophia Khan, Antony E. Shrimpton, Andrew K. Poznanski, Cynthia V. Stack, Lisa G. Shaffer
Publikováno v:
Journal of Pediatric Neurology. :279-283
Chromosomal microdeletion syndromes are frequently associated with neurological disease including epilepsy and behavioral abnormalities. Yet, for most microdeletions, neurological phenotypes are variable and the exact molecular cause of neurological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0eca5d0f3693553ac3ab81fe384c07d
https://doi.org/10.3233/jpn-2009-0312
https://doi.org/10.3233/jpn-2009-0312
HOXD10 Mutations Associated With Congenital Vertical Talus and Pes Cavus Claw-Toe Limb Abnormalities
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d56e232b71820db7de52d026271430c1
https://doi.org/10.1093/med/9780199934522.003.0092
https://doi.org/10.1093/med/9780199934522.003.0092
Autor:
Antony E. Shrimpton, Sandra Hudson, Michael P. Link, Donna Barrett, Devin R. Halleran, Robert E. Hutchison, Charu Thakral, Joseph Laver
Publikováno v:
Pediatric Blood & Cancer. 59:440-447
ALK+ anaplastic large cell lymphoma (ALCL) is usually a disease of young patients. We investigated phosphatidylinositol-3 kinase (PI3K)/Akt pathway-associated factors in pediatric cases and cell lines.Patient materials consisted of tissue slides of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d986d08d2cf7e90b56ba6568da3e96a5
https://doi.org/10.1002/pbc.24153
https://doi.org/10.1002/pbc.24153
Autor:
Colin White, Anna Lehman, Anita A C Reed, Paul T. Christie, Manuel Rivero Sanchez, David V. Milford, Antony E. Shrimpton, Stephen J. Knohl, Oliver Wrong, Richard R. Hoopes, Philip J. Lee, Takashi Igarashi, Robert J. Unwin, Rajesh V. Thakker, Steven J. Scheinman, Paul Hueber
Publikováno v:
Nephron Physiology. 112:p27-p36
Background/Aims: Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the oculocerebrorenal syndrome of Lowe. Methods: Dent patients with normal sequence for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b9793f5f963bdd5de3657ab91b1ab16
https://doi.org/10.1159/000213506
https://doi.org/10.1159/000213506
Autor:
Swee Shan Hue, Mary A. Ritter, Rachel E. Shrimpton, Matt Butler, Anne-Sophie Morel, Efrem Eren
Publikováno v:
Molecular Immunology
CD205 is an endocytic receptor that is expressed at high levels by cortical thymic epithelial cells and by dendritic cell (DC) subsets, including the splenic CD8+ DC population that is responsible for cross-presentation of apoptotic cell-derived anti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae039c6e948c72504eda5a25860053ac
https://doi.org/10.1016/j.molimm.2008.11.016
https://doi.org/10.1016/j.molimm.2008.11.016
Publikováno v:
BMC Bioinformatics
Background Non-synonymous single nucleotide polymorphisms (nsSNPs) are the most common DNA sequence variation associated with disease in humans. Thus determining the clinical significance of each nsSNP is of great importance. Potential detrimental ns
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d8fc7c0df9a34b817a797fa4baad7ca
http://europepmc.org/articles/PMC4513380
http://europepmc.org/articles/PMC4513380
Autor:
Antony E. Shrimpton, Joe J. Hoo
Publikováno v:
European Journal of Medical Genetics. 49:201-206
Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810f46b9981fe903d590e5cf674f4e5f
https://doi.org/10.1016/j.ejmg.2005.06.003
https://doi.org/10.1016/j.ejmg.2005.06.003
Publikováno v:
American Journal of Medical Genetics Part A. :388-391
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45602573ca72be5567719e108b69c7b4
https://doi.org/10.1002/ajmg.a.31066
https://doi.org/10.1002/ajmg.a.31066