Zobrazeno 1 - 7
of 7
pro vyhledávání: '"NJ Marchbank"'
Autor:
N Patel, M Teimory, Carmel Toomes, A Moosavi, NJ Marchbank, Amanda J. Churchill, N Foulds, Chris F. Inglehearn
Publikováno v:
British Journal of Ophthalmology. 86:1314-1315
Juvenile onset dominant optic atrophy (DOA) is the most common inherited optic atrophy with a variable prevalence of between 1 in 10 000 (Denmark) and 1 in 50 000.1,2 The majority of cases have been shown to have mutations in the OPA1 gene on chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727daa5e1119dbb07b3957946e54cd5d
https://doi.org/10.1136/bjo.86.11.1314
https://doi.org/10.1136/bjo.86.11.1314
Autor:
NJ Marchbank, David A. Mackey, J P Leek, Alex F. Markham, Amanda J. Churchill, Chris F. Inglehearn, Carmel Toomes, Jamie E Craig, M Toohey
Publikováno v:
Scopus-Elsevier
Flinders University PURE
Flinders University PURE
Dominant optic atrophy (DOA) is the most common form of autosomally inherited optic neuropathy.1 The disease typically presents in childhood with slow bilateral loss of visual acuity, visual field defects, abnormal colour discrimination, and pallor o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8013416451e9fdcb1a18a78a73da4972
http://www.scopus.com/inward/record.url?eid=2-s2.0-0036676330&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0036676330&partnerID=MN8TOARS
Autor:
Ruth Newbury-Ecob, NJ Marchbank, Graeme C.M. Black, Masoud Teimory, Alexander F. Markham, Colin J. Vize, Nishal Patel, David A. Mackey, Amanda J. Churchill, Chris F. Inglehearn, Christopher P. Bennett, Carmel Toomes, Shrivatsa P. Desai, Jamie E Craig
Publikováno v:
Scopus-Elsevier
Flinders University PURE
University of Western Australia
Flinders University PURE
University of Western Australia
Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the gene responsible, OPA1, was recently identified. We therefore screened a panel of 35 DO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62cd0452c77d1393f1929f0115570155
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035875096&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035875096&partnerID=MN8TOARS
Autor:
Powell BL; Division of Ophthalmology, University of Bristol, Bristol, United Kingdom., Toomes C, Scott S, Yeung A, Marchbank NJ, Spry PG, Lumb R, Inglehearn CF, Churchill AJ
Publikováno v:
Molecular vision [Mol Vis] 2003 Sep 22; Vol. 9, pp. 460-4. Date of Electronic Publication: 2003 Sep 22.
Publikováno v:
The British journal of ophthalmology [Br J Ophthalmol] 2002 Nov; Vol. 86 (11), pp. 1314-5.
Autor:
Marchbank NJ; Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James's University Hospital, Leeds LS9 7TF, UK., Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF
Publikováno v:
Journal of medical genetics [J Med Genet] 2002 Aug; Vol. 39 (8), pp. e47.
Autor:
Toomes C; Molecular Medicine Unit, Clinical Sciences Building, University of Leeds, St James's University Hospital, Leeds, LS9 7TF, UK., Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2001 Jun 15; Vol. 10 (13), pp. 1369-78.