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Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods CG, Ahmed M, Hattingh L, Corry P, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E. Abdollahi MR, et al. Among authors: ahmed m. Am J Hum Genet. 2009 Nov;85(5):737-44. doi: 10.1016/j.ajhg.2009.10.007. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896110 Free PMC article.
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT. Hollstein R, et al. Among authors: ahmed m. J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424145 Free PMC article.
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ. Parry DA, et al. Among authors: ahmed m. Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693231 Free PMC article.
Willingness to pay for genetic testing for inherited retinal disease.
Tubeuf S, Willis TA, Potrata B, Grant H, Allsop MJ, Ahmed M, Hewison J, McKibbin M. Tubeuf S, et al. Among authors: ahmed m. Eur J Hum Genet. 2015 Mar;23(3):285-91. doi: 10.1038/ejhg.2014.111. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916649 Free PMC article.
9,995 results