Al-Owain M - Search Results

1

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Al-Hashmi N, Imtiaz F, Ramzan K, Faden M, Shuaib T, Al-Otaibi L, Al-Hemidan A, Al-Owain M. Al-Hashmi N, et al. Clin Dysmorphol. 2013 Jan;22(1):39-41. doi: 10.1097/MCD.0b013e32835c297e. Clin Dysmorphol. 2013. PMID: 23188137 No abstract available.

2

Visual diagnosis: a child who has hyperpigmented spots and a forearm deformity.

Al-Owain M, Faden M, Chedrawi A. Al-Owain M, et al. Pediatr Rev. 2009 May;30(5):182-6. doi: 10.1542/pir.30-5-182. Pediatr Rev. 2009. PMID: 19411336 No abstract available.

3

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M. Khalifa O, et al. Eur J Pediatr. 2011 Jan;170(1):121-6. doi: 10.1007/s00431-010-1298-0. Epub 2010 Sep 24. Eur J Pediatr. 2011. PMID: 20865280

4

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.

Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, Trabzuni D, Allam R, Al-Mostafa A, Sogaty S, Al-Shaikh AH, Bamukhayyar SS, Meyer BF, Al-Owain M. Imtiaz F, et al. BMC Med Genet. 2011 Jul 4;12:91. doi: 10.1186/1471-2350-12-91. BMC Med Genet. 2011. PMID: 21726435 Free PMC article.

5

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

6

Propionic acidemia associated with visual hallucinations.

Shuaib T, Al-Hashmi N, Ghaziuddin M, Megdad E, Abebe D, Al-Saif A, Doubi A, Aldhalaan H, Abouzied ME, Al-Owain M. Shuaib T, et al. J Child Neurol. 2012 Jun;27(6):799-803. doi: 10.1177/0883073811426929. Epub 2011 Dec 7. J Child Neurol. 2012. PMID: 22156789

7

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M. Khalifa O, et al. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.

8

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Imtiaz F, Taibah K, Bin-Khamis G, Kennedy S, Hemidan A, Al-Qahtani F, Tabbara K, Al Mubarak B, Ramzan K, Meyer BF, Al-Owain M. Imtiaz F, et al. Mol Vis. 2012;18:1885-94. Epub 2012 Jul 12. Mol Vis. 2012. PMID: 22876113 Free PMC article.

9

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

10

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.

Ramzan K, Al-Owain M, Allam R, Berhan A, Abuharb G, Taibah K, Imtiaz F. Ramzan K, et al. Gene. 2013 May 25;521(1):195-9. doi: 10.1016/j.gene.2013.03.042. Epub 2013 Mar 16. Gene. 2013. PMID: 23510777

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