Zobrazeno 1 - 10 of 301 pro vyhledávání: '"H J, Evans"'
1
Medical management of severe obstructive sleep apnoea in two cases during the coronavirus disease 2019 pandemic
Autor: H S Gajaweera, C Griffiths, L H Everitt, H J Evans
Publikováno v: The Journal of laryngology and otology.
ObjectiveSevere paediatric obstructive sleep apnoea in typically developing children with adenotonsillar hypertrophy is primarily managed surgically. Non-emergency ENT surgery was paused early in the coronavirus disease 2019 pandemic and children wer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be84075065e68e4141a10f55a458af35
https://pubmed.ncbi.nlm.nih.gov/35307044
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5
Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome
Autor: Daryll K. Green, M. Carroll, L. McLaren, Andrew M. Sharkey, H. J. Evans, Judith A. Fantes, Peter J. Scambler, D I Wilson
Publikováno v: Human Genetics. 89:73-78
DiGeorge syndrome (DGS) is a human developmental defect of the structures derived from the third and fourth pharyngeal pouches. It apparently arises due to deletion of 22q11. We describe a strategy for the isolation of DNA probes for this region. A d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff09ba2d507d952850eb7a889be760a
https://doi.org/10.1007/bf00207046
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6
p53 allele losses, mutations and expression in breast cancer and their relationship to clinico-pathological parameters
Autor: Thomas J. Anderson, Udi Chetty, H. J. Evans, C. M. Steel, Alastair M. Thompson, J. Prosser, A. Condie, David Carter
Publikováno v: International Journal of Cancer. 50:528-532
The p53 locus on the short arm of chromosome 17 at 17p 13.1 was examined for loss of heterozygosity, mutation, mRNA and protein expression in 60 primary breast cancers. Allele loss around the p53 locus was detected in 19/45 informative tumours (42%).
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39fed04a202c366fb335d6313862c44a
https://doi.org/10.1002/ijc.2910500405
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7
Tumor-suppressor genes: cardinal factors in inherited predisposition to human cancers
Autor: H J Evans, J Prosser
Publikováno v: Environmental Health Perspectives
A predisposition to the development of certain specific and familial cancers is associated with the inheritance of a single mutated gene. In the best-characterized cases, this primary mutation is a loss of function mutation consistent with viability
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94e91efde9c44bb515b1de534dbddd7a
http://europepmc.org/articles/PMC1519615
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9
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred
Autor: Nicholas Stuart Tudor Thomas, Andrew D. Carothers, H. J. Evans, Marcelle Jay, Barrie Jay, A C Bird, M. A. Aldred, Alan F. Wright, S. S. Bhattacharya
Publikováno v: Journal of Medical Genetics. 28:453-457
Genetic linkage and deletion studies have led to the proposal that there are at least two loci on the X chromosome which are responsible for X linked retinitis pigmentosa (XLRP). One locus (RP3) has been closely defined by genetic linkage and deletio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44fd8e301e3f2cbb97d6558547e6aea9
https://doi.org/10.1136/jmg.28.7.453
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