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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: awan m. 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: awan m. Brain. 2008 May;131(Pt 5):1259-67. doi: 10.1093/brain/awn046. Epub 2008 Mar 27. Brain. 2008. PMID: 18372314
Changes in Daily Apparent Diffusion Coefficient on Fully Quantitative Magnetic Resonance Imaging Correlate With Established Genomic Pathways of Radiation Sensitivity and Reveal Novel Biologic Associations.
Hall WA, Mathison AJ, DeVoe E, Tschannen M, Wendt-Andrae J, Straza M, Awan M, Puckett LL, Lawton CAF, Schultz C, Urrutia R, Kerns S, Torres-Roca JF, Li XA, Erickson B, Nevalainen MT, Zimmermann MT, Paulson E. Hall WA, et al. Among authors: awan m. Int J Radiat Oncol Biol Phys. 2024 May 29:S0360-3016(24)00468-1. doi: 10.1016/j.ijrobp.2024.03.042. Online ahead of print. Int J Radiat Oncol Biol Phys. 2024. PMID: 38819340
519 results