Al-Owain M - Search Results

1

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Breuss MW, et al. Am J Hum Genet. 2016 Sep 1;99(3):785. doi: 10.1016/j.ajhg.2016.08.009. Epub 2016 Sep 1. Am J Hum Genet. 2016. PMID: 27588454 Free PMC article. No abstract available.

2

ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis.

Al-Saud B; KFSHRC Physicians & Researchers Consortium; Alshareef T, Al-Alwan M, Alazami AM. Al-Saud B, et al. J Clin Immunol. 2023 Oct;43(7):1529-1532. doi: 10.1007/s10875-023-01529-0. Epub 2023 Jun 9. J Clin Immunol. 2023. PMID: 37291413 Free PMC article. No abstract available.

3

Novel biallelic variants expand the phenotype of NAA20-related syndrome.

D'Onofrio G, Cuccurullo C, Larsen SK, Severino M, D'Amico A, Brønstad K, AlOwain M, Morrison JL, Wheeler PG, Webb BD, Alfalah A, Iacomino M, Uva P, Coppola A, Merla G, Salpietro VD, Zara F, Striano P, Accogli A, Arnesen T, Bilo L. D'Onofrio G, et al. Clin Genet. 2023 Sep;104(3):371-376. doi: 10.1111/cge.14359. Epub 2023 May 16. Clin Genet. 2023. PMID: 37191084

4

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

Shaheen R, Al-Owain M, Sakati N, Alzayed ZS, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2010 Aug 13;87(2):306-7; author reply 308. doi: 10.1016/j.ajhg.2010.05.020. Am J Hum Genet. 2010. PMID: 20696291 Free PMC article. No abstract available.

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

A case of de Barsy syndrome with a severe eye phenotype.

Al-Owain M, Alanazi S, Khalifa O, Al-Hemidan A, Al-Ebdi L, Al-Saud B, Alkuraya FS. Al-Owain M, et al. Am J Med Genet A. 2012 Sep;158A(9):2364-6. doi: 10.1002/ajmg.a.35507. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887749 No abstract available.

7

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.

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

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Breuss MW, et al. Am J Hum Genet. 2016 Jul 7;99(1):228-35. doi: 10.1016/j.ajhg.2016.05.023. Am J Hum Genet. 2016. PMID: 27392077 Free PMC article.

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