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Page 1
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
Thomas MG, Crosier M, Lindsay S, Kumar A, Thomas S, Araki M, Talbot CJ, McLean RJ, Surendran M, Taylor K, Leroy BP, Moore AT, Hunter DG, Hertle RW, Tarpey P, Langmann A, Lindner S, Brandner M, Gottlob I. Thomas MG, et al. Among authors: lindsay s. Brain. 2011 Mar;134(Pt 3):892-902. doi: 10.1093/brain/awq373. Epub 2011 Feb 8. Brain. 2011. PMID: 21303855 Free PMC article.
Abnormal retinal development associated with FRMD7 mutations.
Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S, Moore AT, Gottlob I. Thomas MG, et al. Among authors: lindsay s. Hum Mol Genet. 2014 Aug 1;23(15):4086-93. doi: 10.1093/hmg/ddu122. Epub 2014 Mar 31. Hum Mol Genet. 2014. PMID: 24688117 Free PMC article.
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Miyake N, et al. Among authors: lindsay s. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. Science. 2008. PMID: 18653847 Free PMC article.
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. Bakircioglu M, et al. Among authors: lindsay s. Am J Hum Genet. 2011 May 13;88(5):523-35. doi: 10.1016/j.ajhg.2011.03.019. Epub 2011 Apr 28. Am J Hum Genet. 2011. PMID: 21529752 Free PMC article.
1,176 results