Beesley CE - Search Results

1

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.

Beesley CE, Young EP, Finnegan N, Jackson M, Mills K, Vellodi A, Cleary M, Winchester BG. Beesley CE, et al. Mol Genet Metab. 2009 Apr;96(4):218-24. doi: 10.1016/j.ymgme.2008.12.002. Epub 2009 Jan 18. Mol Genet Metab. 2009. PMID: 19153055

2

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Beesley CE, Young EP, Vellodi A, Winchester BG. Beesley CE, et al. J Med Genet. 1998 Nov;35(11):910-4. doi: 10.1136/jmg.35.11.910. J Med Genet. 1998. PMID: 9832037 Free PMC article.

3

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B. Imtiaz F, et al. J Inherit Metab Dis. 2000 Mar;23(2):162-74. doi: 10.1023/a:1005669900330. J Inherit Metab Dis. 2000. PMID: 10801058 Clinical Trial.

4

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

Beesley CE, Young EP, Vellodi A, Winchester BG. Beesley CE, et al. J Med Genet. 2000 Sep;37(9):704-7. doi: 10.1136/jmg.37.9.704. J Med Genet. 2000. PMID: 11182930 Free PMC article. No abstract available.

5

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG. Beesley CE, et al. Hum Genet. 2001 Nov;109(5):503-11. doi: 10.1007/s004390100606. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735025

6

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Matte U, Yogalingam G, Brooks D, Leistner S, Schwartz I, Lima L, Norato DY, Brum JM, Beesley C, Winchester B, Giugliani R, Hopwood JJ. Matte U, et al. Mol Genet Metab. 2003 Jan;78(1):37-43. doi: 10.1016/s1096-7192(02)00200-7. Mol Genet Metab. 2003. PMID: 12559846

7

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.

Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP. Beesley CE, et al. J Med Genet. 2003 Mar;40(3):192-4. doi: 10.1136/jmg.40.3.192. J Med Genet. 2003. PMID: 12624138 Free PMC article.

8

Sanfilippo B syndrome: molecular defects in Greek patients.

Beesley C, Moraitou M, Winchester B, Schulpis K, Dimitriou E, Michelakakis H. Beesley C, et al. Clin Genet. 2004 Feb;65(2):143-9. doi: 10.1111/j.0009-9163.2004.00210.x. Clin Genet. 2004. PMID: 14984474

9

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. Muschol N, et al. Hum Mutat. 2004 Jun;23(6):559-66. doi: 10.1002/humu.20037. Hum Mutat. 2004. PMID: 15146460

10

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Beesley CE, et al. J Inherit Metab Dis. 2005;28(5):759-67. doi: 10.1007/s10545-005-0093-y. J Inherit Metab Dis. 2005. PMID: 16151907

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