Samman MI - Search Results

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CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.

Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI. Basit S, et al. Among authors: samman mi. Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12. Hum Genet. 2016. PMID: 27519304

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S. Hashmi JA, et al. Among authors: samman mi. Ann Saudi Med. 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391. Ann Saudi Med. 2016. PMID: 27920410 Free PMC article.

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1.

Al-Barry MA, Albalawi AM, Sayf MA, Badawi A, Afzal S, Latif M, Samman MI, Basit S. Al-Barry MA, et al. Among authors: samman mi. BMC Ophthalmol. 2016 Oct 4;16(1):172. doi: 10.1186/s12886-016-0354-6. BMC Ophthalmol. 2016. PMID: 27716192 Free PMC article.

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.

AlAyadhi LY, Hashmi JA, Iqbal M, Albalawi AM, Samman MI, Elamin NE, Bashir S, Basit S. AlAyadhi LY, et al. Among authors: samman mi. Neuroscience. 2016 Dec 17;339:561-570. doi: 10.1016/j.neuroscience.2016.10.030. Epub 2016 Oct 19. Neuroscience. 2016. PMID: 27771533

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.

Umair M, Hassan A, Jan A, Ahmad F, Imran M, Samman MI, Basit S, Ahmad W. Umair M, et al. Among authors: samman mi. J Hum Genet. 2016 Mar;61(3):207-13. doi: 10.1038/jhg.2015.129. Epub 2015 Nov 5. J Hum Genet. 2016. PMID: 26538303

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