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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: degg c. Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893. Epub 2006 Oct 1. Nat Genet. 2006. PMID: 17013395 Free PMC article.
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Thomas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke RD, Woodruff G, Langmann A, Lindner S, Jain S, Tarpey P, Raymond FL, Gottlob I. Thomas S, et al. Among authors: degg c. Brain. 2008 May;131(Pt 5):1259-67. doi: 10.1093/brain/awn046. Epub 2008 Mar 27. Brain. 2008. PMID: 18372314
The prevalence of nystagmus: the Leicestershire nystagmus survey.
Sarvananthan N, Surendran M, Roberts EO, Jain S, Thomas S, Shah N, Proudlock FA, Thompson JR, McLean RJ, Degg C, Woodruff G, Gottlob I. Sarvananthan N, et al. Among authors: degg c. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5201-6. doi: 10.1167/iovs.09-3486. Epub 2009 May 20. Invest Ophthalmol Vis Sci. 2009. PMID: 19458336
ERG Responses in Albinism, Idiopathic Infantile Nystagmus, and Controls.
Tu Z, Degg C, Bach M, McLean R, Sheth V, Thomas MG, Yang S, Gottlob I, Proudlock FA. Tu Z, et al. Among authors: degg c. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):11. doi: 10.1167/iovs.65.4.11. Invest Ophthalmol Vis Sci. 2024. PMID: 38573619 Free PMC article.
Visual field defects associated with vigabatrin therapy.
Lawden MC, Eke T, Degg C, Harding GF, Wild JM. Lawden MC, et al. Among authors: degg c. J Neurol Neurosurg Psychiatry. 1999 Dec;67(6):716-22. doi: 10.1136/jnnp.67.6.716. J Neurol Neurosurg Psychiatry. 1999. PMID: 10567485 Free PMC article.
16 results