Alkuraya FS - Search Results

1

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

2

Expanding the "E" in CHARGE.

Alazami AM, Alzahrani F, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Med Genet A. 2008 Jul 15;146A(14):1890-2. doi: 10.1002/ajmg.a.32376. Am J Med Genet A. 2008. PMID: 18553515 No abstract available.

3

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Al-Dosari MS, et al. Among authors: alkuraya fs. Am J Med Genet A. 2008 Jul 15;146A(14):1875-9. doi: 10.1002/ajmg.a.32401. Am J Med Genet A. 2008. PMID: 18553553

4

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. Alsmadi O, et al. Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13. Eur J Hum Genet. 2009. PMID: 18701883 Free PMC article.

5

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.

6

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

7

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

8

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

9

Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS. Al-Dirbashi OY, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Jun;149A(6):1219-23. doi: 10.1002/ajmg.a.32874. Am J Med Genet A. 2009. PMID: 19449432

10

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.

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