Markham AF - Search Results

1

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: markham af. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.

2

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Keen TJ, et al. Among authors: markham af. Eur J Hum Genet. 2002 Apr;10(4):245-9. doi: 10.1038/sj.ejhg.5200797. Eur J Hum Genet. 2002. PMID: 12032732

3

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ. Toomes C, et al. Among authors: markham af. Hum Mol Genet. 2001 Jun 15;10(13):1369-78. doi: 10.1093/hmg/10.13.1369. Hum Mol Genet. 2001. PMID: 11440989

4

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. McKie AB, et al. Among authors: markham af. Hum Mol Genet. 2001 Jul 15;10(15):1555-62. doi: 10.1093/hmg/10.15.1555. Hum Mol Genet. 2001. PMID: 11468273

5

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Jackson AP, et al. Among authors: markham af. Am J Hum Genet. 2002 Jul;71(1):136-42. doi: 10.1086/341283. Epub 2002 Jun 3. Am J Hum Genet. 2002. PMID: 12046007 Free PMC article.

6

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: markham af. Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.017. Epub 2016 Mar 3. Am J Hum Genet. 2016. PMID: 28863275 Free PMC article. No abstract available.

7

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Carr IM, Johnson CA, Markham AF, Toomes C, Bonthron DT, Sheridan EG. Carr IM, et al. Among authors: markham af. Hum Mutat. 2011 Dec;32(12):1359-66. doi: 10.1002/humu.21597. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21905167

8

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

Khan K, Al-Maskari A, McKibbin M, Carr IM, Booth A, Mohamed M, Siddiqui S, Poulter JA, Parry DA, Logan CV, Hashmi A, Sahi T, Jafri H, Raashid Y, Johnson CA, Markham AF, Toomes C, Rice A, Sheridan E, Inglehearn CF, Ali M. Khan K, et al. Among authors: markham af. Invest Ophthalmol Vis Sci. 2011 Jun 16;52(7):4294-9. doi: 10.1167/iovs.10-6776. Invest Ophthalmol Vis Sci. 2011. PMID: 21474777 Free PMC article.

9

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF. Marchbank NJ, et al. Among authors: markham af. J Med Genet. 2002 Aug;39(8):e47. doi: 10.1136/jmg.39.8.e47. J Med Genet. 2002. PMID: 12161614 Free PMC article. No abstract available.

10

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

Carr IM, Morgan JE, Diggle CP, Sheridan E, Markham AF, Logan CV, Inglehearn CF, Taylor GR, Bonthron DT. Carr IM, et al. Among authors: markham af. Genomics. 2011 Oct;98(4):302-9. doi: 10.1016/j.ygeno.2011.05.004. Epub 2011 May 19. Genomics. 2011. PMID: 21621601 Free article.

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