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SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW. Young TL, et al. Among authors: carmona s. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):6. doi: 10.1167/iovs.61.12.6. Invest Ophthalmol Vis Sci. 2020. PMID: 33027505 Free PMC article.
Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.
Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás J, Guerreiro R. Darwent L, et al. Among authors: carmona s. Neurobiol Aging. 2017 Oct;58:240.e1-240.e3. doi: 10.1016/j.neurobiolaging.2017.06.019. Epub 2017 Jun 28. Neurobiol Aging. 2017. PMID: 28716534 Free PMC article.
BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.
Khani M, Shamshiri H, Taheri H, Hardy J, Bras JT, Carmona S, Moazzeni H, Alavi A, Heshmati A, Taghizadeh P, Nilipour Y, Ghazanfari T, Shahabi M, Okhovat AA, Rohani M, Valle G, Boostani R, Abdi S, Eshghi S, Nafissi S, Elahi E. Khani M, et al. Among authors: carmona s. Neurobiol Aging. 2021 Mar;99:102.e1-102.e10. doi: 10.1016/j.neurobiolaging.2020.09.021. Epub 2020 Oct 5. Neurobiol Aging. 2021. PMID: 33189404
The genetic landscape of Alzheimer disease.
Carmona S, Hardy J, Guerreiro R. Carmona S, et al. Handb Clin Neurol. 2018;148:395-408. doi: 10.1016/B978-0-444-64076-5.00026-0. Handb Clin Neurol. 2018. PMID: 29478590 Review.
308 results