24
results
for author:"Carter N.P."
in Literature Citations
| 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) |
| 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. |
| 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) |
| 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) |
| 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) |
| 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 (2,571) |
| 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) |
| Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH. Ichimura K., Mungall A.J., Fiegler H., Pearson D.M., Dunham I., Carter N.P., Collins V.P. Oncogene 25:1261-1271(2006) · UniProtKB (1) |
| The DNA sequence of the human X chromosome. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P. et al. Nature 434:325-337(2005) · UniProtKB (1,199) |
| NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. Borck G., Redon R., Sanlaville D., Rio M., Prieur M., Lyonnet S., Vekemans M., Carter N.P., Munnich A., Colleaux L. et al. J. Med. Genet. 41:e128-e128(2004) · Mapped (5) |
| The DNA sequence and comparative analysis of human chromosome 10. Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C. et al. Nature 429:375-381(2004) · UniProtKB (1,061) |
| DNA sequence and analysis of human chromosome 9. Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E. et al. Nature 429:369-374(2004) · UniProtKB (1,091) |
| The DNA sequence and analysis of human chromosome 13. Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S. et al. Nature 428:522-528(2004) · UniProtKB (460) |
| The DNA sequence and analysis of human chromosome 6. Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E. et al. Nature 425:805-811(2003) · UniProtKB (1,570) |
| A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. McMullan T.W., Crolla J.A., Gregory S.G., Carter N.P., Cooper R.A., Howell G.R., Robinson D.O. |
| The DNA sequence and comparative analysis of human chromosome 20. Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L. et al. Nature 414:865-871(2001) · UniProtKB (802) |
| The DNA sequence of human chromosome 22. Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K. et al. |
| Characterization of the Lmo4 gene encoding a LIM-only protein: genomic organization and comparative chromosomal mapping. Tse E., Grutz G., Garner A.A., Ramsey Y., Carter N.P., Copeland N., Gilbert D.J., Jenkins N.A., Agulnick A., Forster A. et al. Mamm. Genome 10:1089-1094(1999) · Mapped (8) |
| A YAC-based physical map of the mouse genome. Nusbaum C., Slonim D.K., Harris K.L., Birren B.W., Steen R.G., Stein L.D., Miller J., Dietrich W.F., Nahf R., Wang V. et al. Nat. Genet. 22:388-393(1999) · Mapped (3) |
| Characterization of the mouse beta-prime adaptin gene; cDNA sequence, genomic structure, and chromosomal localization. Guilbaud C., Peyrard M., Fransson I., Clifton S.W., Roe B.A., Carter N.P., Dumanski J.P. |
| Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain. Richards A.J., Al-Imara L., Carter N.P., Lloyd J.C., Leversha M.A., Pope F.M. Genomics 22:237-239(1994) · UniProtKB (1) |
| The human glutamate receptor cDNA GluR1: cloning, sequencing, expression and localization to chromosome 5. Potier M.-C., Spillantini M.G., Carter N.P. DNA Seq. 2:211-218(1992) · UniProtKB (1) |
