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Akademický článek

Spectrum of factor VIII mutations in Arab patients with severe haemophilia A.

Autor: Abu-Amero, K. K.¹ abuamero@shafallahgenetics.org, Hellani, A.², Al-Mahed, M.³, Al-Sheikh, I.⁴

Publikováno v: Haemophilia. May2008, Vol. 14 Issue 3, p484-488. 5p. 2 Charts.

Akademický článek

Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome.

Autor: Abu-Amero, K. K.¹, Alzahrani, A. S.², Zou, M.¹, Shi, Y.¹ yufei@kfshrc.edu.sa

Publikováno v: Oncogene. 2/2/2006, Vol. 25 Issue 5, p677-684. 8p. 3 Charts, 2 Graphs.

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Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Autor: Khor, CC, Do, T, Jia, H, Nakano, M, George, R, Abu-Amero, K, Duvesh, R, Chen, LJ, Li, Z, Nongpiur, ME, Perera, SA, Qiao, C, Wong, HT, Sakai, H, De Melo, MB, Lee, MC, SChan, A, Azhany, Y, Dao, TLH, Ikeda, Y, Perez-Grossmann, RA, Zarnowski, T, Day, AC, Jonas, JB, Tam, POS, Tran, TA, Ayub, H, Akhtar, F, Micheal, S, Chew, PTK, Aljasim, LA, Dada, T, Luu, TT, Awadalla, MS, Kitnarong, N, Wanichwecharungruang, B, Aung, YY, Mohamed-Noor, J, Vijayan, S, Sarangapani, S, Husain, R, Jap, A, Baskaran, M, Goh, D, Su, DH, Wang, H, Yong, VK, Yip, LW, Trinh, TB, Makornwattana, M, Nguyen, TT, Leuenberger, EU, Park, KH, Wiyogo, WA, SKumar, R, Tello, C, Kurimoto, Y, Thapa, SS, Pathanapitoon, K, Salmon, JF, Sohn, YH, Fea, A, Ozaki, M, Lai, JSM, Tantisevi, V, Khaing, CC, Mizoguchi, T, Nakano, S, Kim, CY, Tang, G, Fan, S, Wu, R, Meng, H, Nguyen, TTG, Tran, TD, Ueno, M, Martinez, JM, Ramli, N, Aung, YM, Reyes, RD, Vernon, SA, Fang, SK, Xie, Z, Chen, XY, Foo, JN

Publikováno v: Khor, CC; Do, T; Jia, H; Nakano, M; George, R; Abu-Amero, K; et al.(2016). Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature Genetics, 48(5), 556-562. doi: 10.1038/ng.3540. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/0km511kd

© 2016 Nature America, Inc.Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::0d80dfd83b400bc6ee55ef529f30fa8c
http://www.escholarship.org/uc/item/0km511kd

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Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients

Autor: Abu-Amero, K. K., González, A. M., Osman, E. A., Larruga, J. M., Cabrera, V. M., Saleh Al Obeidan

Publikováno v: Molecular Vision
Web of Science
Scopus-Elsevier

Purpose We previously reported that certain mitochondrial DNA (mtDNA) polymorphisms in the coding region may be involved in the pathogenesis for primary open-angle-glaucoma (POAG). This encouraged us to extend our work and assess whether mtDNA diagno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8b341f18b45d7c7504d8b4b089dba247
http://europepmc.org/articles/PMC3110492

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Akademický článek

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Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma

Autor: Vithana, EN, Khor, CC, Qiao, C, Nongpiur, ME, George, R, Chen, LJ, Do, T, Abu-Amero, K, Huang, CK, Low, S, Tajudin, LSA, Perera, SA, Cheng, CY, Xu, L, Jia, H, Ho, CL, Sim, KS, Wu, RY, Tham, CCY, Chew, PTK, Su, DH, Oen, FT, Sarangapani, S, Soumittra, N, Osman, EA, Wong, HT, Tang, G, Fan, S, Meng, H, Huong, DTL, Wang, H, Feng, B, Baskaran, M, Shantha, B, Ramprasad, VL, Kumaramanickavel, G, Iyengar, SK, How, AC, Lee, KY, Sivakumaran, TA, Yong, VHK, Ting, SML, Li, Y, Wang, YX, Tay, WT, Sim, X, Lavanya, R, Cornes, BK, Zheng, YF, Wong, TT, Loon, SC, Yong, VKY, Waseem, N, Yaakub, A, Chia, KS, Rand Allingham, R, Hauser, MA, Lam, DSC, Hibberd, ML, Bhattacharya, SS, Zhang, M, Teo, YY, Tan, DT, Jonas, JB, Tai, ES, Saw, SM, Hon, DN, Al-Obeidan, SA, Liu, J, Chau, TNB, Simmons, CP, Bei, JX, Zeng, YX, Foster, PJ, Vijaya, L, Wong, TY

Publikováno v: Nature Genetics. 44(10)

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c003ef0890f867d0d46d37c6414a8d9
http://ora.ox.ac.uk/objects/uuid:b22d4ab0-3d74-4fa2-90c3-fe9cd269196a

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An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands

Autor: Preece, M, Abu-Amero, S, Ali, Z, Abu-Amero, K, Wakeling, E, Stanier, P, Moore, G

Silver-Russell syndrome (SRS) shares common features of intrauterine growth retardation (IUGR) and a number of dysmorphic features including lateral asymmetry in about 50% of subjects. Its genetic aetiology is complex and most probably heterogeneous.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fa18103426f06d618f1fefc5da57047c
https://europepmc.org/articles/PMC1734382/

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An analysis of common isodisomic regions in five mUPD 16 probands

Autor: Abu-Amero, S., Ali, Z., Abu-Amero, K., Stanier, P., Moore, G.

Intrauterine growth retardation (IUGR) with or without additional abnormalities is recognised as a common feature of maternal uniparental disomy for chromosome 16 (mUPD 16) and is usually associated with confined placental mosaicism (CPM). Although i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fef879aa729c10da5d00d43e1082efb3
https://europepmc.org/articles/PMC1734327/

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