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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
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
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS. Alrakaf L, et al. Among authors: al owain ma. Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383837
Warsaw breakage syndrome: Further clinical and genetic delineation.
Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D. Alkhunaizi E, et al. Am J Med Genet A. 2018 Nov;176(11):2404-2418. doi: 10.1002/ajmg.a.40482. Epub 2018 Sep 14. Am J Med Genet A. 2018. PMID: 30216658 Free PMC article.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS. Alshenaifi J, et al. Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18. Clin Genet. 2019. PMID: 30561787
124 results