Jefferson A - Search Results

1

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.

Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT. Gloyn AL, et al. Among authors: jefferson a. Diabetes. 2002 Jul;51(7):2329-33. doi: 10.2337/diabetes.51.7.2329. Diabetes. 2002. PMID: 12086970

2

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, Rizzoti K, Lovell-Badge R, Schlessinger D, Whyte MP, Thakker RV. Bowl MR, et al. Among authors: jefferson a. J Clin Invest. 2005 Oct;115(10):2822-31. doi: 10.1172/JCI24156. Epub 2005 Sep 15. J Clin Invest. 2005. PMID: 16167084 Free PMC article.

3

Fluorescence in situ hybridization (FISH) for genomic investigations in rat.

Jefferson A, Volpi EV. Jefferson A, et al. Methods Mol Biol. 2010;659:409-26. doi: 10.1007/978-1-60761-789-1_32. Methods Mol Biol. 2010. PMID: 20809331

4

Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome.

Jefferson A, Colella S, Moralli D, Wilson N, Yusuf M, Gimelli G, Ragoussis J, Volpi EV. Jefferson A, et al. PLoS One. 2010 Jun 29;5(6):e11364. doi: 10.1371/journal.pone.0011364. PLoS One. 2010. PMID: 20613881 Free PMC article.

5

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region.

Davies SJ, Wise C, Venkatesh B, Mirza G, Jefferson A, Volpi EV, Ragoussis J. Davies SJ, et al. Among authors: jefferson a. Cytogenet Genome Res. 2004;105(1):47-53. doi: 10.1159/000078008. Cytogenet Genome Res. 2004. PMID: 15218257

6

HAC stability in murine cells is influenced by nuclear localization and chromatin organization.

Moralli D, Chan DY, Jefferson A, Volpi EV, Monaco ZL. Moralli D, et al. Among authors: jefferson a. BMC Cell Biol. 2009 Mar 6;10:18. doi: 10.1186/1471-2121-10-18. BMC Cell Biol. 2009. PMID: 19267891 Free PMC article.

7

Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice.

Yalcin B, Fullerton J, Miller S, Keays DA, Brady S, Bhomra A, Jefferson A, Volpi E, Copley RR, Flint J, Mott R. Yalcin B, et al. Among authors: jefferson a. Proc Natl Acad Sci U S A. 2004 Jun 29;101(26):9734-9. doi: 10.1073/pnas.0401189101. Epub 2004 Jun 21. Proc Natl Acad Sci U S A. 2004. PMID: 15210992 Free PMC article.

8

Tetrahydrobiopterin-dependent preservation of nitric oxide-mediated endothelial function in diabetes by targeted transgenic GTP-cyclohydrolase I overexpression.

Alp NJ, Mussa S, Khoo J, Cai S, Guzik T, Jefferson A, Goh N, Rockett KA, Channon KM. Alp NJ, et al. Among authors: jefferson a. J Clin Invest. 2003 Sep;112(5):725-35. doi: 10.1172/JCI17786. J Clin Invest. 2003. PMID: 12952921 Free PMC article.

9

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA. Hutchinson S, et al. Among authors: jefferson a. Hum Mol Genet. 2003 Sep 15;12(18):2269-76. doi: 10.1093/hmg/ddg241. Epub 2003 Jul 22. Hum Mol Genet. 2003. PMID: 12915484

10

A leukocyte-mimetic magnetic resonance imaging contrast agent homes rapidly to activated endothelium and tracks with atherosclerotic lesion macrophage content.

McAteer MA, Mankia K, Ruparelia N, Jefferson A, Nugent HB, Stork LA, Channon KM, Schneider JE, Choudhury RP. McAteer MA, et al. Among authors: jefferson a. Arterioscler Thromb Vasc Biol. 2012 Jun;32(6):1427-35. doi: 10.1161/ATVBAHA.111.241844. Epub 2012 Apr 12. Arterioscler Thromb Vasc Biol. 2012. PMID: 22499989 Free PMC article.

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