Alkuraya FS - Search Results

1

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

Khan AO, Aldahmesh MA, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Mol Vis. 2011;17:2570-9. Epub 2011 Oct 4. Mol Vis. 2011. PMID: 22025892 Free PMC article.

2

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Neurogenetics. 2009 Oct;10(4):307-11. doi: 10.1007/s10048-009-0185-1. Epub 2009 Mar 10. Neurogenetics. 2009. PMID: 19277732

3

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Feb 15;149A(4):662-5. doi: 10.1002/ajmg.a.32753. Am J Med Genet A. 2009. PMID: 19283855

4

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.

Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4142-5. doi: 10.1167/iovs.08-3006. Epub 2009 Apr 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19369245

5

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.

Safieh LA, Khan AO, Alkuraya FS. Safieh LA, et al. Among authors: alkuraya fs. Mol Vis. 2009 May 15;15:980-4. Mol Vis. 2009. PMID: 19461931 Free PMC article.

6

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.

Khan AO, Aldahmesh MA, Ghadhfan FE, Al-Mesfer S, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Mol Vis. 2009 Jul 24;15:1407-11. Mol Vis. 2009. PMID: 19633732 Free PMC article.

7

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N. Morales J, et al. Among authors: alkuraya fs. Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011. Am J Hum Genet. 2009. PMID: 19836009 Free PMC article.

8

Characterization of CTNS mutations in Arab patients with cystinosis.

Aldahmesh MA, Humeidan A, Almojalli HA, Khan AO, Rajab M, AL-Abbad AA, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Ophthalmic Genet. 2009 Dec;30(4):185-9. doi: 10.3109/13816810903200953. Ophthalmic Genet. 2009. PMID: 19852576

9

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

10

Corneal decompensation in recessive cornea plana.

Khan AO, Aldahmesh MA, Al-Gehedan S, Meyer BF, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Ophthalmic Genet. 2009 Sep;30(3):142-5. doi: 10.1080/13816810902937084. Ophthalmic Genet. 2009. PMID: 19941419

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