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Page 1
Familial retinal arterial macroaneurysms.
Dhindsa HS, Abboud EB. Dhindsa HS, et al. Among authors: abboud eb. Retina. 2002 Oct;22(5):607-15. doi: 10.1097/00006982-200210000-00012. Retina. 2002. PMID: 12441727
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Abu-Safieh L, et al. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26. Genome Res. 2013. PMID: 23105016 Free PMC article.
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Among authors: abboud eb. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.
Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.
Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA, Nowailaty SR, Al-Thubaiti G, Naim EA, ALYounes B, Binhumaid FS, ALOtaibi AB, Altamimi AS, Alamer FH, Hashem M, Abouelhoda M, Monies D, Alkuraya FS. Shtir C, et al. Hum Genet. 2016 Feb;135(2):193-200. doi: 10.1007/s00439-015-1624-8. Epub 2015 Dec 22. Hum Genet. 2016. PMID: 26693933
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.
Ghazi NG, Abboud EB, Nowilaty SR, Alkuraya H, Alhommadi A, Cai H, Hou R, Deng WT, Boye SL, Almaghamsi A, Al Saikhan F, Al-Dhibi H, Birch D, Chung C, Colak D, LaVail MM, Vollrath D, Erger K, Wang W, Conlon T, Zhang K, Hauswirth W, Alkuraya FS. Ghazi NG, et al. Among authors: abboud eb. Hum Genet. 2016 Mar;135(3):327-43. doi: 10.1007/s00439-016-1637-y. Epub 2016 Jan 29. Hum Genet. 2016. PMID: 26825853 Clinical Trial.
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS. Alkuraya H, et al. Clin Genet. 2020 Mar;97(3):447-456. doi: 10.1111/cge.13676. Epub 2019 Dec 2. Clin Genet. 2020. PMID: 31730227
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R. Wang H, et al. Among authors: abboud eb. Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5. Am J Hum Genet. 2009. PMID: 19268277 Free PMC article.
59 results