Al-Hazzaa SA - Search Results

1

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Among authors: al hazzaa sa. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.

2

Homozygous null mutation in ODZ3 causes microphthalmia in humans.

Aldahmesh MA, Mohammed JY, Al-Hazzaa S, Alkuraya FS. Aldahmesh MA, et al. 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.

3

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SA, Alkuraya FS. Zahrani F, et al. Am J Hum Genet. 2013 Mar 7;92(3):387-91. doi: 10.1016/j.ajhg.2013.01.008. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453665 Free PMC article.

4

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. 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

5

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS. Aldahmesh MA, et al. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044. Epub 2014 Jan 31. Hum Mol Genet. 2014. PMID: 24488770 Free PMC article.

6

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.

Alzahrani F, Al Hazzaa SA, Tayeb H, Alkuraya FS. Alzahrani F, et al. Hum Genet. 2015 Apr;134(4):451-3. doi: 10.1007/s00439-015-1531-z. Epub 2015 Feb 7. Hum Genet. 2015. PMID: 25663169

7

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Abu-Safieh L, et al. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26. Genome Res. 2013. PMID: 23105016 Free PMC article.

8

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F. Ramzan K, et al. Eur J Med Genet. 2014 May-Jun;57(6):253-8. doi: 10.1016/j.ejmg.2014.04.004. Epub 2014 Apr 21. Eur J Med Genet. 2014. PMID: 24768815

9

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.

Al-Rashed M, Abu Safieh L, Alkuraya H, Aldahmesh MA, Alzahrani J, Diya M, Hashem M, Hardcastle AJ, Al-Hazzaa SA, Alkuraya FS. Al-Rashed M, et al. Br J Ophthalmol. 2012 Jul;96(7):1018-22. doi: 10.1136/bjophthalmol-2011-301134. Epub 2012 Feb 8. Br J Ophthalmol. 2012. PMID: 22317909

10

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

Ramzan K, Al-Owain M, Huma R, Al-Hazzaa SAF, Al-Ageel S, Imtiaz F, Al-Sayed M. Ramzan K, et al. Among authors: al hazzaa saf. Int J Pediatr Otorhinolaryngol. 2018 May;108:17-21. doi: 10.1016/j.ijporl.2018.02.016. Epub 2018 Feb 14. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29605349

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