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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, Taranath D, Mills RA, Landers J, Pater J, Smith JE, Elder JE, Rait JL, Giles P, Phakey V, Staffieri SE, Kearns LS, Dubowsky A, Mackey DA, Hewitt AW, Ruddle JB, Burdon KP, Craig JE. Souzeau E, et al. Among authors: ruddle jb. Eur J Hum Genet. 2017 Nov;25(11):1290. doi: 10.1038/ejhg.2017.147. Eur J Hum Genet. 2017. PMID: 29023440 Free PMC article.
Genetic isolates in ophthalmic diseases.
Sherwin JC, Hewitt AW, Ruddle JB, Mackey DA. Sherwin JC, et al. Among authors: ruddle jb. Ophthalmic Genet. 2008 Dec;29(4):149-61. doi: 10.1080/13816810802334341. Ophthalmic Genet. 2008. PMID: 19005985 Review.
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: ruddle jb. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.
91 results