Alkuraya H - Search Results

1

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

AlAbdi L, Shamseldin HE, Khouj E, Helaby R, Aljamal B, Alqahtani M, Almulhim A, Hamid H, Hashem MO, Abdulwahab F, Abouyousef O, Jaafar A, Alshidi T, Al-Owain M, Alhashem A, Al Tala S, Khan AO, Mardawi E, Alkuraya H, Faqeih E, Afqi M, Alkhalifi S, Rahbeeni Z, Hagos ST, Al-Ahmadi W, Nadeef S, Maddirevula S, Khabar KSA, Putra A, Angelov A, Park C, Reyes-Ramos AM, Umer H, Ullah I, Driguez P, Fukasawa Y, Cheung MS, Gallouzi IE, Alkuraya FS. AlAbdi L, et al. Among authors: alkuraya h. Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8. Genome Med. 2023. PMID: 38098057 Free PMC article.

2

Lack of Correlation Between Diabetic Macular Edema and Thickness of the Peripapillary Retinal Nerve Fibre Layer.

Alkuraya HS, Al-Gehedan SM, Alsharif AM, Alasbali T, Lotfy NM, Khandekar R. Alkuraya HS, et al. Middle East Afr J Ophthalmol. 2016 Jul-Sep;23(3):241-6. doi: 10.4103/0974-9233.186097. Middle East Afr J Ophthalmol. 2016. PMID: 27555707 Free PMC article.

3

Current indications and resultant complications of evisceration.

Chaudhry IA, AlKuraya HS, Shamsi FA, Elzaridi E, Riley FC. Chaudhry IA, et al. Ophthalmic Epidemiol. 2007 Mar-Apr;14(2):93-7. doi: 10.1080/09286580600943598. Ophthalmic Epidemiol. 2007. PMID: 17464857

4

A calcineurin-independent mechanism of angiogenesis inhibition by a nonimmunosuppressive cyclosporin A analog.

Nacev BA, Low WK, Huang Z, Su TT, Su Z, Alkuraya H, Kasuga D, Sun W, Träger M, Braun M, Fischer G, Zhang K, Liu JO. Nacev BA, et al. Among authors: alkuraya h. J Pharmacol Exp Ther. 2011 Aug;338(2):466-75. doi: 10.1124/jpet.111.180851. Epub 2011 May 11. J Pharmacol Exp Ther. 2011. PMID: 21562139 Free PMC article.

5

Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function.

Harkewicz R, Du H, Tong Z, Alkuraya H, Bedell M, Sun W, Wang X, Hsu YH, Esteve-Rudd J, Hughes G, Su Z, Zhang M, Lopes VS, Molday RS, Williams DS, Dennis EA, Zhang K. Harkewicz R, et al. Among authors: alkuraya h. J Biol Chem. 2012 Mar 30;287(14):11469-80. doi: 10.1074/jbc.M111.256073. Epub 2011 Dec 24. J Biol Chem. 2012. PMID: 22199362 Free PMC article.

6

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Abu Safieh L, et al. Among authors: alkuraya h, alkuraya fs. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128

7

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya h, alkuraya fs. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.

8

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

Abu-Safieh L, Abboud EB, Alkuraya H, Shamseldin H, Al-Enzi S, Al-Abdi L, Hashem M, Colak D, Jarallah A, Ahmad H, Bobis S, Nemer G, Bitar F, Alkuraya FS. Abu-Safieh L, et al. Among authors: alkuraya h, alkuraya fs. Am J Hum Genet. 2011 Aug 12;89(2):313-9. doi: 10.1016/j.ajhg.2011.07.010. Am J Hum Genet. 2011. PMID: 21835307 Free PMC article.

9

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya h, alkuraya fs. J Med Genet. 2011 Sep;48(9):597-601. doi: 10.1136/jmedgenet-2011-100306. J Med Genet. 2011. PMID: 21862674

10

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Aldahmesh MA, et al. Am J Hum Genet. 2011 Dec 9;89(6):745-50. doi: 10.1016/j.ajhg.2011.10.011. Epub 2011 Nov 17. Am J Hum Genet. 2011. PMID: 22100072 Free PMC article.

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