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Items: 15

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.

Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.

2.

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.

Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240.

3.
4.

Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.

Tufan AC, Satiroglu-Tufan NL, Jackson GC, Semerci CN, Solak S, Yagci B.

Eur J Hum Genet. 2007 Oct;15(10):1023-8. Epub 2007 Jun 20.

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.

Eur J Hum Genet. 2007 Feb;15(2):150-4. Epub 2006 Nov 29.

6.

Congenital cholesteatoma: theories, facts, and 53 patients.

Bennett M, Warren F, Jackson GC, Kaylie D.

Otolaryngol Clin North Am. 2006 Dec;39(6):1081-94. Review.

PMID:
17097434
7.

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.

Hum Mutat. 2005 Dec;26(6):557-65.

8.

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.

Hum Mutat. 2005 Jun;25(6):593-4.

PMID:
15880723
9.

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.

Eur J Hum Genet. 2005 Mar;13(3):292-301. Erratum in: Eur J Hum Genet. 2005 Oct;13(10):1166. Czarny-Ratacjzak, Malwina [corrected to Czarny-Ratajczak, Malwina].

10.

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.

Am J Med Genet A. 2004 Mar 15;125A(3):278-84.

PMID:
14994237
11.

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD.

J Med Genet. 2004 Jan;41(1):52-9. No abstract available.

12.

Intracellular regulation of TRAIL-induced apoptosis in human melanoma cells.

Griffith TS, Chin WA, Jackson GC, Lynch DH, Kubin MZ.

J Immunol. 1998 Sep 15;161(6):2833-40.

13.

Multiple molecular forms of human pancreas alanine aminopeptidase.

Sidorowicz W, Jackson GC, Behal FJ.

Clin Chim Acta. 1980 Jun 10;104(2):169-79.

PMID:
6104547
14.

Some effects of reinforcement schedules in teaching picture names to retarded children.

Stephens CE, Pear JJ, Wray LD, Jackson GC.

J Appl Behav Anal. 1975 Winter;8(4):435-47.

15.

The determination of nicotine in human blood by gas-liquid chromatography.

Burrows IE, Corp PJ, Jackson GC, Page BF.

Analyst. 1971 Jan;96(138):81-4. No abstract available.

PMID:
5121552

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