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Page 1
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium; Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Koenekoop RK, et al. Among authors: mckibbin m. Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842230 Free PMC article.
A new pedigree with recessive mapping to CHED2 locus on 20p13.
Mohamed MD, McKibbin M, Jafri H, Rasheed Y, Woods CG, Inglehearn CF. Mohamed MD, et al. Among authors: mckibbin m. Br J Ophthalmol. 2001 Jun;85(6):758-9. doi: 10.1136/bjo.85.6.754d. Br J Ophthalmol. 2001. PMID: 11439918 Free PMC article. No abstract available.
Further considerations of retinopathy with renal failure.
Mohamed MD, McKibbin MA. Mohamed MD, et al. Among authors: mckibbin ma. Br J Ophthalmol. 2003 May;87(5):659. doi: 10.1136/bjo.87.5.659. Br J Ophthalmol. 2003. PMID: 12714427 Free PMC article. No abstract available.
Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF. Woods CG, et al. Among authors: mckibbin m. Am J Hum Genet. 2006 May;78(5):889-896. doi: 10.1086/503875. Epub 2006 Mar 21. Am J Hum Genet. 2006. PMID: 16642444 Free PMC article.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: mckibbin m. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029
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: mckibbin m. 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.
223 results