Folgen
Stephanie Halford
Stephanie Halford
Bestätigte E-Mail-Adresse bei eye.ox.ac.uk
Titel
Zitiert von
Zitiert von
Jahr
Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6. 2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant …
AL Gloyn, MN Weedon, KR Owen, MJ Turner, BA Knight, G Hitman, ...
Diabetes 52 (2), 568-572, 2003
10092003
PracticalIn SituHybridization. Trude Schwarzacher and Pat Heslop‐Harrison. BIOS Scientific Publishers, Oxford. 2000. Pp. 203. Price £21.95, paperback. ISBN 1 …
S Halford
Heredity 85 (1), 97-97, 2000
730*2000
Ocular coloboma: a reassessment in the age of molecular neuroscience
CY Gregory-Evans, MJ Williams, S Halford, K Gregory-Evans
Journal of medical genetics 41 (12), 881-891, 2004
2732004
The evolution of irradiance detection: melanopsin and the non-visual opsins
SN Peirson, S Halford, RG Foster
Philosophical Transactions of the Royal Society B: Biological Sciences 364 …, 2009
2722009
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
AH Carey, D Kelly, S Halford, R Wadey, D Wilson, J Goodship, J Burn, ...
American journal of human genetics 51 (5), 964, 1992
2121992
VA opsin-based photoreceptors in the hypothalamus of birds
S Halford, SS Pires, M Turton, L Zheng, I González-Menéndez, WL Davies, ...
Current biology 19 (16), 1396-1402, 2009
1792009
Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality
C Roberts, HF Sutherland, H Farmer, W Kimber, S Halford, A Carey, ...
Molecular and cellular biology 22 (7), 2318-2328, 2002
1662002
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
S Halford, R Wadey, C Roberts, SCM Daw, JA Whiting, H O'Donnell, ...
Human molecular genetics 2 (12), 2099-2107, 1993
1651993
Large-Scale Analysis of the Relationship between CYP11A Promoter Variation, Polycystic Ovarian Syndrome, and Serum Testosterone
M Gaasenbeek, BL Powell, U Sovio, L Haddad, N Gharani, A Bennett, ...
The Journal of Clinical Endocrinology & Metabolism 89 (5), 2408-2413, 2004
1582004
Identification of a New Human Catenin Gene Family Member (ARVCF) from the Region Deleted in Velo–Cardio–Facial Syndrome
H Sirotkin, H O'Donnell, R DasGupta, S Halford, BS Jore, A Puech, ...
Genomics 41 (1), 75-83, 1997
1361997
Functional diversity of melanopsins and their global expression in the teleost retina
WIL Davies, L Zheng, S Hughes, TK Tamai, M Turton, S Halford, ...
Cellular and Molecular Life Sciences 68 (24), 4115-4132, 2011
1272011
Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene
F Tata, P Stanier, C Wicking, S Halford, H Kruyer, NJ Lench, PJ Scambler, ...
Genomics 10 (2), 301-307, 1991
1211991
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
S Johnson, S Halford, AG Morris, RJ Patel, SE Wilkie, AJ Hardcastle, ...
Genomics 81 (3), 304-314, 2003
1162003
Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina
SS Pires, S Hughes, M Turton, Z Melyan, SN Peirson, L Zheng, ...
Journal of Neuroscience 29 (39), 12332-12342, 2009
1142009
Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.
HF Sutherland, R Wadey, JM McKie, C Taylor, U Atif, KA Johnstone, ...
American journal of human genetics 59 (1), 23, 1996
1131996
Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits
BL Powell, L Haddad, A Bennett, N Gharani, U Sovio, CJ Groves, K Rush, ...
The Journal of Clinical Endocrinology & Metabolism 90 (5), 2988-2993, 2005
1082005
Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43
S Halford, MS Freedman, J Bellingham, SL Inglis, S Poopalasundaram, ...
Genomics 72 (2), 203-208, 2001
1072001
Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11
S Halford, E Lindsay, M Nayudu, AH Carey, A Baldini, PJ Scambler
Human molecular genetics 2 (2), 191-196, 1993
1051993
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
S Broadgate, J Yu, SM Downes, S Halford
Progress in retinal and eye research 59, 53-96, 2017
1022017
Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy
S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ...
Ophthalmology 121 (6), 1174-1184, 2014
942014
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20