Browse by Academic Unit (A-Z)

B

Brickwood, S., Bonthron, D.T., Al-Gazali, L.I. et al. (4 more authors) (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. Journal of Medical Genetics, 40 (9). pp. 685-689. ISSN 0022-2593

Bruce, K., Myers, F.A., Mantouvalou, E. et al. (6 more authors) (2005) The replacement histone H2A.Z in a hyperacetylated form is a feature of active genes in the chicken. Nucleic Acids Research, 33 (17). pp. 5633-5639. ISSN 1362-4962

H

Hampshire, D.J., Roberts, E., Crow, Y. et al. (5 more authors) (2001) Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. Journal of Medical Genetics, 38 (10). pp. 680-682. ISSN 0022-2593

Hayward, B. E., De Vos, M., Judson, H. et al. (5 more authors) (2003) Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline. BMC Genetics, 4. ISSN 1471-2156

I

Ingram, N, Macnab, SA, Marston, G et al. (5 more authors) (2013) The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors. BMC Medical Imaging, 13 (1). 1 - 9. ISSN 1471-2342

Ingram, R., Tagoh, H., Riggs, A.D. et al. (1 more author) (2005) Rapid, solid-phase based automated analysis of chromatin structure and transcription factor occupancy in living eukaryotic cells. Nucleic Acids Research, 33 (1). e1-e1. ISSN 1362-4962

J

Judson, H., Hayward, B.E., Sheridan, E. et al. (1 more author) (2002) A global disorder of imprinting in the human female germ line. Nature, 416 (6880). pp. 539-542. ISSN 0028-0836

L

Leal, G.F., Roberts, E., Silva, E.O. et al. (3 more authors) (2003) A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. Journal of Medical Genetics, 40 (7). pp. 540-542. ISSN 0022-2593

Lynex, C.N., Carr, I.M., Leek, J.P. et al. (6 more authors) (2004) Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurology, 4 (20). ISSN 1471-2377

M

Mackie, S., Robinson, J.I., Barrett, J.H. et al. (12 more authors) (2005) Association of FCGR3A and FCGR3B haplotypes with rheumatoid arthritis and primary Sjögren's syndrome [POSTER PRESENTATION]. Arthritis Research and Therapy, 7 (Suppl ). p. 121. ISSN 1478-6362

Mohamed, M.D., Topping, N.C, Jafri, H. et al. (3 more authors) (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. British Journal of Ophthalmology, 87 (4). pp. 473-475. ISSN 0007-1161

Morgan, A.W., Barrett, J.H., Griffiths, B. et al. (12 more authors) (2005) Analysis of Fcγ receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3B. Arthritis Research and Therarpy, 8 (R5). ISSN 1478-6362

Mubaidin, A., Roberts, E., Hampshire, D. et al. (7 more authors) (2003) Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. Journal of Medical Genetics, 40 (7). pp. 543-546. ISSN 0022-2593

P

Parry, DA, Brookes, SJ, Logan, CV et al. (19 more authors) (2012) Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91 (3). 565 - 571. ISSN 0002-9297

Ponchel, F., Toomes, C., Bransfield, K. et al. (11 more authors) (2003) 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 deletions. BMC Biotechnology, 3 (18). ISSN 1472-6750

Ponchel, F., Verburg, R.J., Bingham, S.J. et al. (24 more authors) (2004) Interleukin-7 deficiency in rheumatoid arthritis: consequences for therapy-induced lymphopenia. Arthritis Research and Therapy, 7 (1). R80-R92. ISSN 1478-6362

R

Riess, N.P., Milward, K., Lee, T. et al. (3 more authors) (2005) Trapping of normal EB1 ligands in aggresomes formed by an EB1 deletion mutant. BMC Cell Biology, 6 (17). ISSN 1471-2121

Roberts, E., Hampshire, D.J., Pattison, L. et al. (8 more authors) (2002) Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. Journal of Medical Genetics, 39 (10). pp. 718-721. ISSN 0022-2593

S

Speirs, V., Skliris, G.P., Burdall, S.E. et al. (1 more author) (2002) Distinct expression patterns of ER alpha and ER beta in normal human mammary gland. Journal of Clinical Pathlogy, 55 (5). pp. 371-374. ISSN 0021-9746

Stadler, S., Schnapp, V., Mayer, R. et al. (5 more authors) (2004) The architecture of chicken chromosome territories changes during differentiation. BMC Cell Biology, 5 (44). ISSN 1471-2121