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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. Patel A, et al. Among authors: sowden jc. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Idrees F, et al. Among authors: sowden jc. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389592
A review of anterior segment dysgeneses.
Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. Idrees F, et al. Among authors: sowden jc. Surv Ophthalmol. 2006 May-Jun;51(3):213-31. doi: 10.1016/j.survophthal.2006.02.006. Surv Ophthalmol. 2006. PMID: 16644364 Review.
Atypical Peters plus syndrome with new associations.
Mataftsi A, Sowden JC, Nischal KK. Mataftsi A, et al. Among authors: sowden jc. J AAPOS. 2010 Dec;14(6):560-1; author reply 561. doi: 10.1016/j.jaapos.2010.09.001. J AAPOS. 2010. PMID: 21168087 No abstract available.
119 results