Alkuraya FS - Search Results

1

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: alkuraya h, alkuraya fs. Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30054919

2

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.

3

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

4

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

5

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

6

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

7

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.

8

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.

9

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

Al-Dosari M, Alkuraya FS. Al-Dosari M, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Oct;149A(10):2093-8. doi: 10.1002/ajmg.a.32996. Am J Med Genet A. 2009. PMID: 19681135

10

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Am J Hum Genet. 2009. PMID: 19732862 Free PMC article.

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