Jackson GC - Search Results

1

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD. Jackson GC, et al. Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922596 Free PMC article.

2

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD. Kennedy J, et al. Eur J Hum Genet. 2005 May;13(5):547-55. doi: 10.1038/sj.ejhg.5201374. Eur J Hum Genet. 2005. PMID: 15756302 Free PMC article. Review.

3

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.

Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J, Wright MJ, Mortier GR, Neas K, Thompson E, Elles R, Briggs MD. Kennedy J, et al. Among authors: jackson gc. Hum Mutat. 2005 Jun;25(6):593-4. doi: 10.1002/humu.9342. Hum Mutat. 2005. PMID: 15880723

4

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Cotterill SL, Jackson GC, Leighton MP, Wagener R, Mäkitie O, Cole WG, Briggs MD. Cotterill SL, et al. Among authors: jackson gc. Hum Mutat. 2005 Dec;26(6):557-65. doi: 10.1002/humu.20263. Hum Mutat. 2005. PMID: 16287128 Free PMC article.

5

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD. Zankl A, et al. Among authors: jackson gc. Eur J Hum Genet. 2007 Feb;15(2):150-4. doi: 10.1038/sj.ejhg.5201744. Epub 2006 Nov 29. Eur J Hum Genet. 2007. PMID: 17133256 Free PMC article.

6

Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.

Fresquet M, Jackson GC, Loughlin J, Briggs MD. Fresquet M, et al. Among authors: jackson gc. Hum Mutat. 2008 Feb;29(2):330. doi: 10.1002/humu.9518. Hum Mutat. 2008. PMID: 18205203

7

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.

Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD. Jackson GC, et al. Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240. Am J Med Genet A. 2010. PMID: 20358595 Free PMC article.

8

A disorder resembling pseudoachondroplasia but without COMP mutation.

Spranger JW, Zabel B, Kennedy J, Jackson G, Briggs M. Spranger JW, et al. Am J Med Genet A. 2005 Jan 1;132A(1):20-4. doi: 10.1002/ajmg.a.30350. Am J Med Genet A. 2005. PMID: 15551305

9

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

Mäkitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG. Mäkitie O, et al. Among authors: jackson gc. Am J Med Genet A. 2004 Mar 15;125A(3):278-84. doi: 10.1002/ajmg.a.20486. Am J Med Genet A. 2004. PMID: 14994237

10

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.

Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. Jakkula E, et al. Among authors: jackson gc. Eur J Hum Genet. 2005 Mar;13(3):292-301. doi: 10.1038/sj.ejhg.5201314. Eur J Hum Genet. 2005. PMID: 15523498

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