Zobrazeno 1 - 10
of 12
pro vyhledávání: '"T. Jeffrey Keen"'
Autor:
John C. McHale, T. Jeffrey Keen, Alan J. Mighell, Louise Downey, Steven P Robertson, Ismail K. Jalili, Chris F. Inglehearn, Bernd Wissinger, Michael J. Aldred, Steven Fayle
Publikováno v:
European Journal of Human Genetics. 10:865-869
A consanguineous Arab pedigree in which recessive amelogenesis imperfecta (AI) and cone-rod dystrophy cosegregate, was screened for linkage to known retinal dystrophy and tooth abnormality loci by genotyping neighbouring microsatellite markers. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa9fdc0b54a3a7d038fb2099a7e8ea7d
https://doi.org/10.1038/sj.ejhg.5200884
https://doi.org/10.1038/sj.ejhg.5200884
Autor:
Anthony T. Moore, Myrto Papaioannou, Eranga N. Vithana, Hanno J. Bolz, Reshma Patel, Thomas Rosenberg, David M. Hunt, Leen Abu-Safieh, Matthew M. Hims, Alan C. Bird, Shomi S. Bhattacharya, Christina Chakarova, Andreas Gal, Catherine Willis, Chris F. Inglehearn, T. Jeffrey Keen, Andrew R. Webster
Publikováno v:
Human Molecular Genetics. 11:87-92
Retinitis pigmentosa (RP), the commonest form of inherited retinal dystrophies is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina leading to night blindness and loss of per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a613c6b8950afef6251cb64902dfba11
https://doi.org/10.1093/hmg/11.1.87
https://doi.org/10.1093/hmg/11.1.87
Autor:
Rachel M. Powlesland, Keith W. Brown, Eric D. Green, Aimee F. Cunningham, Paul A. Reynolds, T. Jeffrey Keen, Chris F. Inglehearn
Publikováno v:
Genes, Chromosomes and Cancer. 17:151-155
Cytogenetic analysis of predisposition syndromes has played a critical role in the elucidation of the genetics of Wilms' tumor (WT). Therefore, we became interested in a patient who presented with a WT and a nephrogenic rest in the contralateral kidn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b707a09cf7dda0fe0e3d6e3c99c9127
https://doi.org/10.1002/(sici)1098-2264(199611)17:3<151::aid-gcc2>3.0.co
https://doi.org/10.1002/(sici)1098-2264(199611)17:3<151::aid-gcc2>3.0.co
Autor:
T. Jeffrey Keen, Chris F. Inglehearn
Publikováno v:
Human Mutation. 8:297-303
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9f32cc1c69dc5e6f13694efae64d6a1
https://doi.org/10.1002/(sici)1098-1004(1996)8:4<297::aid-humu1>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1996)8:4<297::aid-humu1>3.3.co
Publikováno v:
Extremophiles : life under extreme conditions. 16(3)
Methane monooxygenases (MMOs) are oxygen-dependent enzymes that catalyze the oxidation of methane to methanol in the methanotrophic bacteria. The thermoacidophilic verrucomicrobial methanotroph ‘Methylacidiphilum kamchatkense’ Kam1 contains three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a6247bde85e5ef91ebf0350dd2aa7b0
https://pubmed.ncbi.nlm.nih.gov/22488571
https://pubmed.ncbi.nlm.nih.gov/22488571
Autor:
T. Jeffrey Keen, Chris F. Inglehearn, Hiroshi Maita, Hirotake Kitaura, Hiroyoshi Ariga, Sanae M.M. Iguchi-Ariga
Publikováno v:
Experimental cell research. 300(2)
PAP-1 is an in vitro phosphorylation target of the Pim-1 oncogene. Although PAP-1 binds to Pim-1, it is not a substrate for phosphorylation by Pim-1 in vivo. PAP-1 has recently been implicated as the defective gene in RP9, one type of autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d79f1c84d9296930ffedd32f04ca08
https://pubmed.ncbi.nlm.nih.gov/15474994
https://pubmed.ncbi.nlm.nih.gov/15474994
Autor:
Yasmin Rashid, Hussain Jafri, Moin Mohamed, T. Jeffrey Keen, Irene H. Maumenee, Chris F. Inglehearn, Martin McKibbin
Publikováno v:
European journal of human genetics : EJHG. 11(5)
Leber's congenital amaurosis (LCA) is the most common cause of inherited childhood blindness and is characterised by severe retinal degeneration at or shortly after birth. We have identified a new locus, LCA9, on chromosome 1p36, at which the disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18ac51e3d357a9236f02c219f1521613
https://pubmed.ncbi.nlm.nih.gov/12734549
https://pubmed.ncbi.nlm.nih.gov/12734549
Autor:
Rene Goliath, Alexander F. Markham, Jacquie Greenberg, John C. McHale, Alan C. Bird, Carel B. Hoyng, Emma E. Tarttelin, AB McKie, Frans P.M. Cremers, Rajkumar Ramesar, David A. Mackey, T. Jeffrey Keen, Janneke J.C. van Lith-Verhoeven, Chris F. Inglehearn, Shomi S. Bhattacharya
Publikováno v:
Scopus-Elsevier
University of Western Australia
Human Molecular Genetics, 10, 1555-1562
Human Molecular Genetics, 10, 15, pp. 1555-1562
University of Western Australia
Human Molecular Genetics, 10, 1555-1562
Human Molecular Genetics, 10, 15, pp. 1555-1562
Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive degeneration of the peripheral retina leading to night blindness and loss of visual fields. With an incidence of approximately 1 in 4000, RP can be inherit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5adc27567f97976973a0d40ffb99c84
https://pubmed.ncbi.nlm.nih.gov/11468273
https://pubmed.ncbi.nlm.nih.gov/11468273
Autor:
Eric D. Green, Aimee F. Cunningham, Reshma Patel, Jean Weissenbach, Chris F. Inglehearn, Steve Gerken, Ray White, T. Jeffrey Keen, Rachel E. Peacock, Shomi S. Bhattacharya
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
6 páginas, 3 figuras, 1 tabla.-- et al.
The dominant retinitis pigmentosa locus RP9 has previously been localized to 7p13-p15, in the interval D7S526-D7S484. We now report refinement of the locus to the interval D7S795-D7S484 and a YAC contig o
The dominant retinitis pigmentosa locus RP9 has previously been localized to 7p13-p15, in the interval D7S526-D7S484. We now report refinement of the locus to the interval D7S795-D7S484 and a YAC contig o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d4bedfbe0b8a9a195c3b89b72d3552a
http://hdl.handle.net/10261/40481
http://hdl.handle.net/10261/40481
Publikováno v:
Human molecular genetics. 3(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe87981ae0a07dd74897862677ab56b
https://pubmed.ncbi.nlm.nih.gov/8004111
https://pubmed.ncbi.nlm.nih.gov/8004111