Dixon MJ - Search Results

1

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA. Stewart H, et al. Among authors: dixon mj. Ophthalmology. 1999 May;106(5):964-70. doi: 10.1016/S0161-6420(99)00539-4. Ophthalmology. 1999. PMID: 10328397

2

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.

Stewart HS, Ridgway AE, Dixon MJ, Bonshek R, Parveen R, Black G. Stewart HS, et al. Among authors: dixon mj. Hum Mutat. 1999;14(2):126-32. doi: 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W. Hum Mutat. 1999. PMID: 10425035

3

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. Dixon MJ, et al. Among authors: dixon j. Am J Hum Genet. 1991 Jul;49(1):17-22. Am J Hum Genet. 1991. PMID: 1676560 Free PMC article.

4

Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.

Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, Pinkners AJ, van Beersum SE, Black GC. Perveen R, et al. Among authors: dixon mj. Genomics. 1999 Apr 15;57(2):219-26. doi: 10.1006/geno.1999.5766. Genomics. 1999. PMID: 10198161

5

Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3.

Donnai D, Heather LJ, Sinclair P, Thakker Y, Scambler PJ, Dixon MJ. Donnai D, et al. Among authors: dixon mj. Clin Dysmorphol. 1992 Apr;1(2):89-97. Clin Dysmorphol. 1992. PMID: 1345518

6

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.

Gladwin A, Donnai D, Metcalfe K, Schrander-Stumpel C, Brueton L, Verloes A, Aylsworth A, Toriello H, Winter R, Dixon M. Gladwin A, et al. Hum Mol Genet. 1997 Jan;6(1):123-7. doi: 10.1093/hmg/6.1.123. Hum Mol Genet. 1997. PMID: 9002680

7

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.

O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ. O'Sullivan J, et al. Among authors: dixon mj. Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549343 Free PMC article.

8

EYA4, a novel vertebrate gene related to Drosophila eyes absent.

Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I. Borsani G, et al. Hum Mol Genet. 1999 Jan;8(1):11-23. doi: 10.1093/hmg/8.1.11. Hum Mol Genet. 1999. PMID: 9887327

9

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.

Mitchell K, O'Sullivan J, Missero C, Blair E, Richardson R, Anderson B, Antonini D, Murray JC, Shanske AL, Schutte BC, Romano RA, Sinha S, Bhaskar SS, Black GC, Dixon J, Dixon MJ. Mitchell K, et al. Among authors: dixon mj, dixon j. Am J Hum Genet. 2012 Jan 13;90(1):69-75. doi: 10.1016/j.ajhg.2011.11.013. Epub 2011 Dec 22. Am J Hum Genet. 2012. PMID: 22197488 Free PMC article.

10

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.

Richardson R, Donnai D, Meire F, Dixon MJ. Richardson R, et al. Among authors: dixon mj. J Med Genet. 2004 Jan;41(1):60-7. doi: 10.1136/jmg.2003.012005. J Med Genet. 2004. PMID: 14729836 Free PMC article. No abstract available.

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