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Page 1
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC. Whitman MC, et al. Among authors: khan ao. Hum Mol Genet. 2019 Sep 15;28(18):3113-3125. doi: 10.1093/hmg/ddz137. Hum Mol Genet. 2019. PMID: 31211835 Free PMC article.
Synergistic divergence: a distinct ocular motility dysinnervation pattern.
Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM. Oystreck DT, et al. Among authors: khan ao. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5213-6. doi: 10.1167/iovs.08-2928. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578026 Free PMC article.
Xq26.3 microdeletion in a male with Wildervanck Syndrome.
Abu-Amero KK, Kondkar AA, Alorainy IA, Khan AO, Al-Enazy LA, Oystreck DT, Bosley TM. Abu-Amero KK, et al. Among authors: khan ao. Ophthalmic Genet. 2014 Mar;35(1):18-24. doi: 10.3109/13816810.2013.766218. Epub 2013 Feb 1. Ophthalmic Genet. 2014. PMID: 23373430
Mutations in LRPAP1 are associated with severe myopia in humans.
Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS. Aldahmesh MA, et al. Among authors: khan ao. Am J Hum Genet. 2013 Aug 8;93(2):313-20. doi: 10.1016/j.ajhg.2013.06.002. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830514 Free PMC article.
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H. Salih MA, et al. Among authors: khan ao. PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. PLoS One. 2013. PMID: 24130795 Free PMC article.
CCDD Phenotype Associated with a Small Chromosome 2 Deletion.
Abu-Amero KK, Bosley TM, Kondkar AA, Oystreck DT, Khan AO. Abu-Amero KK, et al. Among authors: khan ao. Semin Ophthalmol. 2015;30(5-6):435-42. doi: 10.3109/08820538.2013.874474. Epub 2014 Jan 29. Semin Ophthalmol. 2015. PMID: 24475916
374 results