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收藏Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2
Rezaie, Tayebeh; Ghoroghchian, Rose; Bell, Rachel; Brice, Glen; Hasan, Ali; Burnand, Kevin; Vernon, Steve; Mansour, Sahar; Mortimer, Peter; Jeffery, Steve; Child, Anne; Sarfarazi, Mansoor
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收藏CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes
Chitsazian, Fereshteh; Tusi, Betsabeh Khoramian; Elahi, Elahe; Saroei, Heidar Amini; Sanati, Mohammad H.; Yazdani, Shahin; Pakravan, Mohammad; Nilforooshan, Navid; Eslami, Yadollah; Mehrjerdi, Mohammad Ali Zare; Zareei, Reza; Jabbarvand, Mahmood; Abdolahi, Ali; Lasheyee, Ali R.; Etemadi, Arash; Bayat, Behnaz; Sadeghi, Mehdi; Banoei, Mohammad M.; Ghafarzadeh, Behnam; Rohani, Mohammad R.; Rismanchian, Akram; Thorstenson, Yvonne; Sarfarazi, Mansoor
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收藏Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene
Aung, T; Rezaie, T; Okada, K; Viswanathan, AC; Child, AH; Brice, G; Bhattacharya, SS; Lehmann, OJ; Sarfarazi, M; Hitchings, RA
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收藏Lymphoedema-distichiasis and FOXC2:: unreported mutations, de novo mutation estimate, families without coding mutations
Sholto-Douglas-Vernon, C; Bell, R; Brice, G; Mansour, S; Sarfarazi, M; Child, AH; Smith, A; Mellor, R; Burnand, K; Mortimer, P; Jeffery, S
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收藏Defining the pathogenicity of optineurin in juvenile open-angle glaucoma
Willoughby, CE; Chan, LLY; Herd, S; Billingsley, G; Noordeh, N; Levin, AV; Buys, Y; Trope, G; Sarfarazi, M; Héon, E
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收藏Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
Stoilov, I; Akarsu, AN; Alozie, I; Child, A; Barsoum-Homsy, M; Turacli, ME; Or, M; Lewis, RA; Ozdemir, N; Brice, G; Aktan, SG; Chevrette, L; Coca-Prados, M; Sarfarazi, M
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