Al-Owain M - Search Results

1

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Faqeih EA, Al-Owain M, Colak D, Kenana R, Al-Yafee Y, Al-Dosary M, Al-Saman A, Albalawi F, Al-Sarar D, Domiaty D, Daghestani M, Kaya N. Faqeih EA, et al. Am J Med Genet A. 2014 Jun;164A(6):1565-70. doi: 10.1002/ajmg.a.36482. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668509

2

Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M. Al-Hassnan ZN, et al. J Child Neurol. 2009 Dec;24(12):1513-9. doi: 10.1177/0883073809341269. J Child Neurol. 2009. PMID: 19955343 Review.

3

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J. Al-Owain M, et al. Orphanet J Rare Dis. 2010 Apr 16;5:7. doi: 10.1186/1750-1172-5-7. Orphanet J Rare Dis. 2010. PMID: 20398363 Free PMC article.

4

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.

5

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS. Shaheen R, et al. Am J Med Genet A. 2011 Jun;155A(6):1448-52. doi: 10.1002/ajmg.a.34025. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567934

6

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M. Kaya N, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21812104

7

Clinical and biochemical features associated with BCS1L mutation.

Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N. Al-Owain M, et al. J Inherit Metab Dis. 2013 Sep;36(5):813-20. doi: 10.1007/s10545-012-9536-4. Epub 2012 Sep 19. J Inherit Metab Dis. 2013. PMID: 22991165

8

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS. Shaheen R, et al. J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142. J Med Genet. 2012. PMID: 23054245

9

Mutation in MPDZ causes severe congenital hydrocephalus.

Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS. Al-Dosari MS, et al. J Med Genet. 2013 Jan;50(1):54-8. doi: 10.1136/jmedgenet-2012-101294. J Med Genet. 2013. PMID: 23240096

10

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

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