Al-Owain M - Search Results

1

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H. Salih MA, et al. PLoS One. 2013 Oct 9;8(10):e76831. doi: 10.1371/journal.pone.0076831. eCollection 2013. PLoS One. 2013. PMID: 24130795 Free PMC article.

2

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4. Eur J Pediatr. 2009. PMID: 19259699

3

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.

4

Munchausen syndrome by proxy mimicking as Gaucher disease.

Al-Owain M, Al-Zaidan H, Al-Hashem A, Kattan H, Al-Dowaish A. Al-Owain M, et al. Eur J Pediatr. 2010 Aug;169(8):1029-32. doi: 10.1007/s00431-009-1127-5. Epub 2009 Dec 29. Eur J Pediatr. 2010. PMID: 20039062

5

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS. Al-Hassnan ZN, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S263-7. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22. J Inherit Metab Dis. 2010. PMID: 20567907

6

Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.

Al-Owain M, Kaya N, Al-Zaidan H, Bin Hussain I, Al-Manea H, Al-Hindi H, Kennedy S, Iqbal MA, Al-Mojalli H, Al-Bakheet A, Puel A, Casanova JL, Al-Muhsen S. Al-Owain M, et al. Clin Dev Immunol. 2010;2010:586342. doi: 10.1155/2010/586342. Epub 2010 Dec 14. Clin Dev Immunol. 2010. PMID: 21197407 Free PMC article.

7

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M. Imtiaz F, et al. Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30. Mol Genet Metab. 2011. PMID: 21764616

8

Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.

Al-Owain M, Al-Zaidan H, Al-Hassnan Z. Al-Owain M, et al. Am J Med Genet A. 2012 Oct;158A(10):2629-40. doi: 10.1002/ajmg.a.35551. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903695

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. 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

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS. Al-Owain M, et al. Gene. 2012 Dec 15;511(2):447-50. doi: 10.1016/j.gene.2012.09.022. Epub 2012 Sep 23. Gene. 2012. PMID: 23010198

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