1 - 25 of
85
results
for author:"Carter N."
in Literature Citations
| Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Gestri G., Osborne R.J., Wyatt A.W., Gerrelli D., Gribble S., Stewart H., Fryer A., Bunyan D.J., Prescott K., Collin J.R. et al. Hum. Genet. 0:0-0(2009) · Mapped (4) |
| Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. Wellcome Trust Case Control Consortium PLoS ONE 4:e6138-e6138(2009) · Mapped (5) |
| Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K. et al. Am. J. Hum. Genet. 84:780-791(2009) · Mapped (1) |
| HIF-1alpha mRNA gene expression levels in improved diagnosis of early stages of prostate cancer. Pipinikas C.P., Carter N.D., Corbishley C.M., Fenske C.D. Biomarkers 13:680-691(2008) · Mapped (8) |
| NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases. Khetyar M., Tinworth L., Syrris P., Abushaban L., Abdulazzaq Y., Silengo M., Carvalho J., Carter N. Genet. Test. 12:467-469(2008) · Mapped (4) |
| EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Abd El-Aziz M.M., Barragan I., O'Driscoll C.A., Goodstadt L., Prigmore E., Borrego S., Mena M., Pieras J.I., El-Ashry M.F., Safieh L.A. et al. |
| Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. Khetyar M., Syrris P., Tinworth L., Abushaban L., Carter N. Genet. Test. 12:457-459(2008) · Mapped (3) |
| Effects of exogenous thyroid hormones on visual pigment composition in coho salmon (Oncorhynchus kisutch). Temple S.E., Ramsden S.D., Haimberger T.J., Veldhoen K.M., Veldhoen N.J., Carter N.L., Roth W.M., Hawryshyn C.W. J. Exp. Biol. 211:2134-2143(2008) · UniProtKB (1) |
| Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval. Abd El-Aziz M.M., Barragan I., O'Driscoll C., Borrego S., Abu-Safieh L., Pieras J.I., El-Ashry M.F., Prigmore E., Carter N., Antinolo G. et al. Ann. Hum. Genet. 72:463-477(2008) · Mapped (2) |
| Instructive role of aPKCzeta subcellular localization in the assembly of adherens junctions in neural progenitors. Ghosh S., Marquardt T., Thaler J.P., Carter N., Andrews S.E., Pfaff S.L., Hunter T. Proc. Natl. Acad. Sci. U.S.A. 105:335-340(2008) · Mapped (10) |
| Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12. Menten B., Buysse K., Vermeulen S., Meersschaut V., Vandesompele J., Ng B.L., Carter N.P., Mortier G.R., Speleman F. Eur J Med Genet 50:446-454(2007) · Mapped (5) |
| Diet and the evolution of human amylase gene copy number variation. Perry G.H., Dominy N.J., Claw K.G., Lee A.S., Fiegler H., Redon R., Werner J., Villanea F.A., Mountain J.L., Misra R. et al. Nat. Genet. 39:1256-1260(2007) · UniProtKB (10) |
| Measurement of blood E2F3 mRNA in prostate cancer by quantitative RT-PCR: a preliminary study. Pipinikas C.P., Nair S.B., Kirby R.S., Carter N.D., Fenske C.D. Biomarkers 12:541-557(2007) · Mapped (5) |
| Induction of passive Heymann nephritis in complement component 6-deficient PVG rats. Spicer S.T., Tran G.T., Killingsworth M.C., Carter N., Power D.A., Paizis K., Boyd R., Hodgkinson S.J., Hall B.M. J. Immunol. 179:172-178(2007) · Mapped (1) |
| Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Amiel J., Rio M., de Pontual L., Redon R., Malan V., Boddaert N., Plouin P., Carter N.P., Lyonnet S., Munnich A. et al. Am. J. Hum. Genet. 80:988-993(2007) · UniProtKB (1) |
| Multi-drug resistance gene-1 (MDR-1) haplotypes and the CYP3A5*1 genotype have no influence on ciclosporin dose requirements as assessed by C0 or C2 measurements. Fredericks S., Jorga A., MacPhee I.A., Reboux S., Shiferaw E., Moreton M., Carter N.D., Holt D.W., Johnston A. Clin Transplant 21:252-257(2007) · Mapped (21) |
| Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene PIK3R1 haplotype is associated with body fat and serum leptin in a female twin population. Jamshidi Y., Snieder H., Wang X., Pavitt M.J., Spector T.D., Carter N.D., O'Dell S.D. Diabetologia 49:2659-2667(2006) · Mapped (10) |
| Multidrug resistance gene-1 (MDR-1) haplotypes have a minor influence on tacrolimus dose requirements. Fredericks S., Moreton M., Reboux S., Carter N.D., Goldberg L., Holt D.W., MacPhee I.A. Transplantation 82:705-708(2006) · Mapped (8) |
| Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Shaw-Smith C., Pittman A.M., Willatt L., Martin H., Rickman L., Gribble S., Curley R., Cumming S., Dunn C., Kalaitzopoulos D. et al. Nat. Genet. 38:1032-1037(2006) · Mapped (5) |
| AMP-kinase alpha2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women. Spencer-Jones N.J., Ge D., Snieder H., Perks U., Swaminathan R., Spector T.D., Carter N.D., O'Dell S.D. J. Med. Genet. 43:936-942(2006) · Mapped (3) |
| The DNA sequence and biological annotation of human chromosome 1. Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A. et al. Nature 441:315-321(2006) · UniProtKB (2,550) |
| Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins. Jamshidi Y., Snieder H., Wang X., Spector T.D., Carter N.D., O'Dell S.D. Diabetologia 49:306-310(2006) · Mapped (3) |
| Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Woodward K.J., Cundall M., Sperle K., Sistermans E.A., Ross M., Howell G., Gribble S.M., Burford D.C., Carter N.P., Hobson D.L. et al. Am. J. Hum. Genet. 77:966-987(2005) · Mapped (7) |
| Genomic and protein expression profiling identifies CDK6 as novel independent prognostic marker in medulloblastoma. Mendrzyk F., Radlwimmer B., Joos S., Kokocinski F., Benner A., Stange D.E., Neben K., Fiegler H., Carter N.P., Reifenberger G. et al. J. Clin. Oncol. 23:8853-8862(2005) · Mapped (8) |
| Protein tyrosine phosphatase-1B gene PTPN1: selection of tagging single nucleotide polymorphisms and association with body fat, insulin sensitivity, and the metabolic syndrome in a normal female population. Spencer-Jones N.J., Wang X., Snieder H., Spector T.D., Carter N.D., O'Dell S.D. Diabetes 54:3296-3304(2005) · Mapped (4) |
