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Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: parry da. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Parry DA, et al. Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200525 Free PMC article.
Null mutations in LTBP2 cause primary congenital glaucoma.
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF. Ali M, et al. Among authors: parry da. Am J Hum Genet. 2009 May;84(5):664-71. doi: 10.1016/j.ajhg.2009.03.017. Epub 2009 Apr 9. Am J Hum Genet. 2009. PMID: 19361779 Free PMC article.
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF. Parry DA, et al. Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409519 Free PMC article.
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: parry da. 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.
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I, Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M, Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT, Sheridan EG. Parry DA, et al. Am J Hum Genet. 2011 Sep 9;89(3):451-8. doi: 10.1016/j.ajhg.2011.08.002. Epub 2011 Sep 1. Am J Hum Genet. 2011. PMID: 21885028 Free PMC article.
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, Logan CV, Abdelhamed ZI, Muecke JS, Fernandez-Fuentes N, Laurie KJ, Shires M, Fogarty R, Carr IM, Poulter JA, Morgan JE, Mohamed MD, Jafri H, Raashid Y, Meng N, Piseth H, Toomes C, Casson RJ, Taylor GR, Hammerton M, Sheridan E, Johnson CA, Inglehearn CF, Craig JE, Ali M. Khan K, et al. Among authors: parry da. Am J Hum Genet. 2011 Sep 9;89(3):464-73. doi: 10.1016/j.ajhg.2011.08.005. Am J Hum Genet. 2011. PMID: 21907015 Free PMC article.
319 results