Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Neil A Hanchard"'
Autor:
Samuel Kyobe, Grace Kisitu, Savannah Mwesigwa, John Farirai, Eric Katagirya, Gaone Retshabile, Lesedi Williams, Angela Mirembe, Lesego Ketumile, Misaki Wayengera, John Mukisa, Gaseene Sebetso, Thabo Diphoko, Marion Amujal, Edgar Kigozi, Fred Katabazi, Ronald Oceng, Busisiwe Mlotshwa, Koketso Morapedi, Betty Nsangi, Edward Wampande, Masego Tsimako, Chester Brown, Ishmael Kasvosve, Moses Joloba, Gabriel Anabwani, Sununguko Mpoloka, Graeme Mardon, Adeodata Kekitiinwa, Neil A. Hanchard, Jacqueline Kyosiimire–Lugemwa, Mogomotsi Matshaba, Dithan Kiragga
Publikováno v:
International Journal of Infectious Diseases, Vol 139, Iss , Pp 132-140 (2024)
Objectives: We utilize a large retrospective study cohort derived from electronic medical records to estimate the prevalence of long-term non-progression (LTNP) and determine the factors associated with progression among children infected with HIV in
Externí odkaz:
https://doaj.org/article/485968415239449bb3ea480de2a6ff4b
Autor:
Samuel Kyobe, Savannah Mwesigwa, Gyaviira Nkurunungi, Gaone Retshabile, Moses Egesa, Eric Katagirya, Marion Amujal, Busisiwe C. Mlotshwa, Lesedi Williams, Hakim Sendagire, on behalf of the CAfGEN Consortium, Dithan Kiragga, Graeme Mardon, Mogomotsi Matshaba, Neil A. Hanchard, Jacqueline Kyosiimire-Lugemwa, David Robinson
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9683 (2024)
Efforts towards an effective HIV-1 vaccine have remained mainly unsuccessful. There is increasing evidence for a potential role of HLA-C-restricted CD8+ T cell responses in HIV-1 control, including our recent report of HLA-C*03:02 among African child
Externí odkaz:
https://doaj.org/article/a5fbaf7a3d01492b8efba06d5f843031
Autor:
Lisa E Creary, Pinar Ulug, Stephan Menzel, Colin A McKenzie, Neil A Hanchard, Veronica Taylor, Martin Farrall, Terrence E Forrester, Swee Lay Thein
Publikováno v:
PLoS ONE, Vol 4, Iss 1, p e4218 (2009)
Fetal haemoglobin (HbF) is a major ameliorating factor in sickle cell disease. We investigated if a quantitative trait locus on chromosome 6q23 was significantly associated with HbF and F cell levels in individuals of African descent. Single nucleoti
Externí odkaz:
https://doaj.org/article/61e366561f074f21a7f7fbabd2cdd491
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100140- (2022)
Summary: Over the past 5 years, human genetics and genomics research has placed a greater emphasis on increasing diversity among research participants and study researchers as a means of expanding the reach of human genetics and the knowledge accrued
Externí odkaz:
https://doaj.org/article/51a40505a622454a96aa31d6c5efe80b
Autor:
Katharina V. Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J. Hopkin, Aaron Hamvas, Jennifer A. Wambach, Marwan Shinawi, Gladys Zapata, Claudia M. B. Carvalho, Qian Liu, Justyna A. Karolak, James R. Lupski, Neil A. Hanchard, Paweł Stankiewicz
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-10 (2019)
Abstract Background Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of p
Externí odkaz:
https://doaj.org/article/bf6be8c5ff914536b4d51e4548e033c3
Autor:
Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Abstract Background Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copy-number neu
Externí odkaz:
https://doaj.org/article/9879805980e143e1af4e72fdff58ff03
Publikováno v:
Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-4 (2019)
Abstract Background It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extre
Externí odkaz:
https://doaj.org/article/c0215f99cdc7409e80361d359072304f
Autor:
Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, Christine Eng, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, John W. Belmont
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-10 (2017)
Abstract Background Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several div
Externí odkaz:
https://doaj.org/article/1959731fdcb748ae9e55ad3d875f098c
Autor:
Neil A, Hanchard, Ananyo, Choudhury
Publikováno v:
Cell. 185:3286-3289
In this issue of Cell, Bryska-Bishop et al. report the release of the expanded, high-depth sequencing data that characterize the fourth phase of the 1000 Genomes Project. Using extensive comparisons and benchmarks, they demonstrate how this dataset i
Autor:
Amy A. Lemke, Edward D. Esplin, Aaron J. Goldenberg, Claudia Gonzaga-Jauregui, Neil A. Hanchard, Julie Harris-Wai, Justin E. Ideozu, Rosario Isasi, Andrew P. Landstrom, Anya E.R. Prince, Erin Turbitt, Maya Sabatello, Samantha A. Schrier Vergano, Matthew R.G. Taylor, Joon-Ho Yu, Kyle B. Brothers, Nanibaa’ A. Garrison
Publikováno v:
Am J Hum Genet
The vision of the American Society of Human Genetics (ASHG) is that people everywhere will realize the benefits of human genetics and genomics. Implicit in that vision is the importance of ensuring that the benefits of human genetics and genomics res