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A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. Jakkula E, et al. Among authors: capone a. J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942. J Med Genet. 2003. PMID: 14684695 Free PMC article. No abstract available.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Submacular hemorrhage removal.
Lim JI, Drews-Botsch C, Sternberg P Jr, Capone A Jr, Aaberg TM Sr. Lim JI, et al. Among authors: capone a jr. Ophthalmology. 1995 Sep;102(9):1393-9. doi: 10.1016/s0161-6420(95)30858-5. Ophthalmology. 1995. PMID: 9097779
Surgical management of subfoveal neovascularization in children.
Sears J, Capone A Jr, Aaberg T Sr, Lewis H, Grossniklaus H, Sternberg P Jr, DeJuan E. Sears J, et al. Among authors: capone a jr. Ophthalmology. 1999 May;106(5):920-4. doi: 10.1016/S0161-6420(99)00510-2. Ophthalmology. 1999. PMID: 10328390
576 results