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Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I. Tarpey P, et al. Among authors: hertle rw. Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893. Epub 2006 Oct 1. Nat Genet. 2006. PMID: 17013395 Free PMC article.
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: hertle rw. Brain. 2011 Mar;134(Pt 3):892-902. doi: 10.1093/brain/awq373. Epub 2011 Feb 8. Brain. 2011. PMID: 21303855 Free PMC article.
X-linked infantile periodic alternating nystagmus.
Hertle RW, Yang D, Kelly K, Hill VM, Atkin J, Seward A. Hertle RW, et al. Ophthalmic Genet. 2005 Jun;26(2):77-84. doi: 10.1080/13816810590968014. Ophthalmic Genet. 2005. PMID: 16020310
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: hertle rw. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
Infantile aperiodic alternating nystagmus.
Hertle RW, Reznick L, Yang D. Hertle RW, et al. J Pediatr Ophthalmol Strabismus. 2009 Mar-Apr;46(2):93-103. doi: 10.3928/01913913-20090301-13. J Pediatr Ophthalmol Strabismus. 2009. PMID: 19343971
162 results