Alkuraya FS - Search Results

1

Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Among authors: alkuraya fs. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014 Free PMC article.

2

SUMO1 haploinsufficiency leads to cleft lip and palate.

Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. Alkuraya FS, et al. Science. 2006 Sep 22;313(5794):1751. doi: 10.1126/science.1128406. Science. 2006. PMID: 16990542

3

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Ophthalmic Genet. 2011 Sep;32(3):138-42. doi: 10.3109/13816810.2010.544365. Epub 2011 Feb 9. Ophthalmic Genet. 2011. PMID: 21306220

4

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

Khan AO, Al-Abdi L, Mohamed JY, Aldahmesh MA, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. J AAPOS. 2011 Apr;15(2):198-9. doi: 10.1016/j.jaapos.2011.01.156. J AAPOS. 2011. PMID: 21596299

5

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.

6

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.

Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Genet Med. 2011 Nov;13(11):978-81. doi: 10.1097/GIM.0b013e31822623d5. Genet Med. 2011. PMID: 21836522 Free article.

7

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Khalak HG, et al. Among authors: alkuraya fs. Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241088 Free article.

8

Homozygous null mutation in ODZ3 causes microphthalmia in humans.

Aldahmesh MA, Mohammed JY, Al-Hazzaa S, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Genet Med. 2012 Nov;14(11):900-4. doi: 10.1038/gim.2012.71. Epub 2012 Jul 5. Genet Med. 2012. PMID: 22766609 Free article.

9

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Genet Med. 2012 Dec;14(12):955-62. doi: 10.1038/gim.2012.86. Epub 2012 Aug 30. Genet Med. 2012. PMID: 22935719 Free article.

10

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing.

Shamseldin HE, Swaid A, Alkuraya FS. Shamseldin HE, et al. Among authors: alkuraya fs. Genet Med. 2013 Apr;15(4):307-9. doi: 10.1038/gim.2012.130. Epub 2012 Oct 4. Genet Med. 2013. PMID: 23037934 Free PMC article.

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