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Page 1
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T, Saeidian AH, Bagherian H, Salehpour S, Setoodeh A, Alaei MR, Youssefian L, Samavat A, Touati A, Fallah MS, Vahidnezhad H, Karimipoor M, Azadmehr S, Raeisi M, Bandehi Sarhadi A, Zafarghandi Motlagh F, Jamali M, Zeinali Z, Abiri M, Zeinali S; Additional individual contributors. Shirzadeh T, et al. Among authors: saeidian ah. J Inherit Metab Dis. 2018 Nov;41(6):1159-1167. doi: 10.1007/s10545-018-0228-6. Epub 2018 Aug 29. J Inherit Metab Dis. 2018. PMID: 30159852
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J. Vahidnezhad H, et al. Among authors: saeidian ah. J Invest Dermatol. 2016 Sep;136(9):1897-1901. doi: 10.1016/j.jid.2016.05.106. Epub 2016 Jun 7. J Invest Dermatol. 2016. PMID: 27283507 Free article. No abstract available.
Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.
Vahidnezhad H, Karamzadeh R, Saeidian AH, Youssefian L, Sotoudeh S, Zeinali S, Vasei M, Golnabi F, Baghdadi T, Uitto J. Vahidnezhad H, et al. Among authors: saeidian ah. J Invest Dermatol. 2017 Feb;137(2):525-528. doi: 10.1016/j.jid.2016.10.007. Epub 2016 Oct 15. J Invest Dermatol. 2017. PMID: 27756598 Free article. No abstract available.
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Mansouri P, Sotoudeh S, Barzegar M, Mohammadi-Asl J, Karamzadeh R, Abiri M, McCormick K, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: saeidian ah. J Invest Dermatol. 2017 Mar;137(3):678-685. doi: 10.1016/j.jid.2016.11.012. Epub 2016 Nov 21. J Invest Dermatol. 2017. PMID: 27884779 Free article.
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh AM, Barzegar M, Ertel A, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: saeidian ah. J Invest Dermatol. 2017 Mar;137(3):660-669. doi: 10.1016/j.jid.2016.10.023. Epub 2016 Oct 27. J Invest Dermatol. 2017. PMID: 27899325 Free article.
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Abiri M, Barzegar M, Aghazadeh N, Mahmoudi H, Norouz-Zadeh S, Hamid M, Zahabiyon M, Bagherian H, Zeinali S, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: saeidian ah. J Invest Dermatol. 2017 Dec;137(12):2649-2652. doi: 10.1016/j.jid.2017.07.830. Epub 2017 Aug 19. J Invest Dermatol. 2017. PMID: 28830826 Free article. No abstract available.
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Mahmoudi H, Daneshpazhooh M, Aghazadeh N, Adams R, Ghanadan A, Zeinali S, Fortina P, Uitto J. Youssefian L, et al. Among authors: saeidian ah. Eur J Hum Genet. 2017 Nov;25(11):1282-1285. doi: 10.1038/ejhg.2017.137. Epub 2017 Sep 6. Eur J Hum Genet. 2017. PMID: 28875980 Free PMC article.
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: saeidian ah. Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11. Matrix Biol. 2018. PMID: 29138120
64 results