Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Elizabeth Ives"'
Autor:
Hannah Thurgur, Anne Katrin Schlag, Elizabeth Iveson, Adele Hosseini, Michael Lynskey, David J. Nutt
Publikováno v:
Exploration of Medicine, Vol 4, Iss 4, Pp 487-503 (2023)
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection can result in a range of persistent symptoms impacting everyday functioning for a considerable proportion of patients, a condition termed Long coronavirus disease (COVID) or post
Externí odkaz:
https://doaj.org/article/6ff1384aa45740969304c57158829f74
Publikováno v:
Learning Disability Practice. 19:33-38
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c27c5502b0e4a922b9daee75ac256ef5
https://doi.org/10.7748/ldp.2016.e1734
https://doi.org/10.7748/ldp.2016.e1734
Publikováno v:
Clinical Genetics. 58:390-395
Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39e33419ecfcebbe44f40f1322de8fff
https://doi.org/10.1034/j.1399-0004.2000.580510.x
https://doi.org/10.1034/j.1399-0004.2000.580510.x
Autor:
F. Richards, G van den Engh, David Sillence, Brooke N. Bourdélat-Parks, Cheryl R. Greenberg, K. Nichol, Y P Goldberg, Michael R. Hayden, E. Almqvist, Leah LaTray, M. R. Hughes, H Telenius, B. R. Haddad, Elizabeth Ives, Sean Chong
Publikováno v:
Human Molecular Genetics. 6:301-309
New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f2dbe72a97d43bb1cfd3cfbc594e35
https://doi.org/10.1093/hmg/6.2.301
https://doi.org/10.1093/hmg/6.2.301
Autor:
Jeanette J. A. Holden, Bradley N. White, Maryse Chalifoux, Linda MacLaren, Elizabeth Ives, Paula D. Robinson, Christopher K. Schutz, Sandra A. Farrell
Publikováno v:
American Journal of Medical Genetics. 64:89-96
A gene responsible for X-linked mental retardation with macrocephaly and seizures (MRX38) in a family with five affected males in three generations was localized to Xp21.1-p22.13 by linkage analysis. Recombination events placed the gene between DXS12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::424d6789cf0902fe35c6c71bb96f8929
https://doi.org/10.1002/(sici)1096-8628(19960712)64:1<89::aid-ajmg16>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960712)64:1<89::aid-ajmg16>3.0.co
Autor:
Roxanna Moslehi, Gilbert M. Lenoir, Henry T. Lynch, Lisa A. Cannon-Albright, Steven A. Narod, Barbara L. Weber, David E. Goldgar, Elizabeth Ives
Publikováno v:
International Journal of Cancer. 64:394-398
The majority of, but not all, women with mutations in the BRCAI gene will be affected with breast or ovarian cancer by the age of 70. To establish whether known risk factors modify susceptibility to cancer in these women, we have studied the reproduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a9b5022c55fbb50fb36ffedf0f1609c
https://doi.org/10.1002/ijc.2910640608
https://doi.org/10.1002/ijc.2910640608
Autor:
Patrick A. Dion, Inge A. Meijer, Mandar Jog, Sharan Goobie, Mark Stefanelli, William Pryse-Phillips, Guy A. Rouleau, Elizabeth Ives, Kanwal K. Grewal, Richard Leckey, Nancy D. Merner, David Grimes, Kym M. Boycott, Kathleen A. Hodgkinson, Cynthia V. Bourassa
Our group previously described and mapped to chromosomal region 12p13 a form of dominantly inherited hereditary spastic ataxia (HSA) in three large Newfoundland (Canada) families. This report identifies vesicle-associated membrane protein 1 (VAMP1),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64064d2983c26e55949777a17f73bf81
https://europepmc.org/articles/PMC3511983/
https://europepmc.org/articles/PMC3511983/
Publikováno v:
Nature Genetics. 7:158-161
Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular degeneration developing in the third or fourth decade. Patients lose central vision from subretinal neovascularization and atrophy of the choriocapillaris, pigment epithelium and retina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d44364bc4e01fe3db46184f666e0289
https://doi.org/10.1038/ng0694-158
https://doi.org/10.1038/ng0694-158
Autor:
E Toscano, Generoso Andria, C Young, BG Sibley, Mark E. Samuels, Marcia L.E. MacDonald, B Payne, HB Younghusband, JH Dimon, G Donaldson, Sakiat Hossain, A Duff, Maryanne Mattice, Julie MacFarlane, Jay Thompson, D Bowsher, Simon N. Pimstone, E Boltshauser, Hayden, R Fraser, Robin Sherrington, Elizabeth Ives, J Kerdraon, Y P Goldberg, GA Grinspan, Roger C. Green, Terry D Pape, C Radomski, J Cox, M-P Dubé
Publikováno v:
Clinical genetics. 71(4)
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b7fefccf50fa90bf6f149ee6ed134a
https://pubmed.ncbi.nlm.nih.gov/17470132
https://pubmed.ncbi.nlm.nih.gov/17470132
Autor:
Anne Katrin Schlag, Michael Lynskey, Alan Fayaz, Alkyoni Athanasiou-Fragkouli, Brigitta Brandner, Barbara Haja, Elizabeth Iveson, David J. Nutt
Publikováno v:
Frontiers in Pain Research, Vol 3 (2022)
BackgroundPrescribed cannabinoids are now legal in the UK and increasingly being used for a variety of conditions, with one of the most frequent conditions being chronic pain. This paper describes the characteristics of individuals seeking prescribed
Externí odkaz:
https://doaj.org/article/537bda0fcd5142088e74337a8dd0cb66