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Chris Inglehearn
Chris Inglehearn
Professor of Molecular Ophthalmology, University of Leeds
Bestätigte E-Mail-Adresse bei leeds.ac.uk
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Zitiert von
Zitiert von
Jahr
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene …
F Ponchel, C Toomes, K Bransfield, FT Leong, SH Douglas, SL Field, ...
BMC biotechnology 3 (1), 1-13, 2003
5212003
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, ...
The American Journal of Human Genetics 74 (4), 721-730, 2004
3972004
Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.
J Keen, DH Lester, CF Inglehearn, A Curtis, S Bhattacharya
Trends in genetics: TIG 7 (1), 5-5, 1991
3441991
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
AB McKie, JC McHale, TJ Keen, EE Tarttelin, R Goliath, ...
Human molecular genetics 10 (15), 1555-1562, 2001
3212001
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
H Khanna, EE Davis, CA Murga-Zamalloa, A Estrada-Cuzcano, I Lopez, ...
Nature genetics 41 (6), 739-745, 2009
3002009
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ...
Nature genetics 42 (7), 619-625, 2010
2982010
Null mutations in LTBP2 cause primary congenital glaucoma
M Ali, M McKibbin, A Booth, DA Parry, P Jain, SA Riazuddin, ...
The American Journal of Human Genetics 84 (5), 664-671, 2009
2972009
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
CG Woods, J Cox, K Springell, DJ Hampshire, MD Mohamed, M McKibbin, ...
The American Journal of Human Genetics 78 (5), 889-896, 2006
2912006
Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
CF Chakarova, MM Hims, H Bolz, L Abu-Safieh, RJ Patel, ...
Human molecular genetics 11 (1), 87-92, 2002
2872002
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
EN Vithana, P Morgan, P Sundaresan, ND Ebenezer, DTH Tan, ...
Nature genetics 38 (7), 755-757, 2006
2442006
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
AI Den Hollander, RK Koenekoop, MD Mohamed, HH Arts, K Boldt, ...
Nature genetics 39 (7), 889-895, 2007
2102007
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
2082015
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy
JA Poulter, M Ali, DF Gilmour, A Rice, H Kondo, K Hayashi, DA Mackey, ...
The American Journal of Human Genetics 86 (2), 248-253, 2010
2082010
Amelogenesis imperfecta; genes, proteins, and pathways
CEL Smith, JA Poulter, A Antanaviciute, J Kirkham, SJ Brookes, ...
Frontiers in physiology 8, 435, 2017
1902017
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
C Toomes, NJ Marchbank, DA Mackey, JE Craig, RA Newbury-Ecob, ...
Human Molecular Genetics 10 (13), 1369-1378, 2001
1862001
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
LS Sullivan, JR Heckenlively, SJ Bowne, J Zuo, WA Hide, A Gal, ...
Nature genetics 22 (3), 255-259, 1999
1841999
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
RK Koenekoop, H Wang, J Majewski, X Wang, I Lopez, H Ren, Y Chen, ...
Nature genetics 44 (9), 1035-1039, 2012
1832012
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
DA Parry, AJ Mighell, W El-Sayed, RC Shore, IK Jalili, H Dollfus, ...
The american journal of human genetics 84 (2), 266-273, 2009
1642009
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta
W El-Sayed, DA Parry, RC Shore, M Ahmed, H Jafri, Y Rashid, ...
The American Journal of Human Genetics 85 (5), 699-705, 2009
1492009
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa
CF Inglehearn, TJ Keen, R Bashir, M Jay, F Fitzke, A C. Bird, A Crombie, ...
Human molecular genetics 1 (1), 41-45, 1992
1431992
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