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The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. Campeau PM, et al. Among authors: kariminejad a. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Lancet Neurol. 2014. PMID: 24291220 Free PMC article.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J. Youssefian L, et al. Among authors: kariminejad a. Hum Mutat. 2019 Feb;40(2):217-229. doi: 10.1002/humu.23686. Epub 2018 Dec 1. Hum Mutat. 2019. PMID: 30431684 Free PMC article.
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Bazazzadegan N, Vazehan R, Fadaee M, Fattahi Z, Abolhassani A, Parsimehr E, Kalhor Z, Faraji Zonooz M, Ahangari F, Dehdahsi S, Samiee F, Jamali P, Habibi H, Nourizadeh Y, Mahdavi S, Beheshtian M, Kariminejad A, Smith RJ, Najmabadi H. Bazazzadegan N, et al. Among authors: kariminejad a. Iran J Public Health. 2019 Oct;48(10):1910-1915. Iran J Public Health. 2019. PMID: 31850270 Free PMC article.
Techniques such as next-generation sequencing, a comprehensive genetic test using targeted genomic enrichment and massively parallel sequencing (TGE + MPS), have made the diagnosis more cost-effective. ...METHODS: Fifty GJB2 negative individuals with HHL were referred to t …
Techniques such as next-generation sequencing, a comprehensive genetic test using targeted genomic enrichment and massively parallel …
154 results