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Page 1
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: fortina p. 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.
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: fortina p. 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.
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: fortina p. Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11. Matrix Biol. 2018. PMID: 29138120
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: fortina p. 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.
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: fortina p. 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.
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, Mansouri P, Daneshpazhooh M, Aghazadeh N, Hesari KK, Basiri M, Londin E, Kumar G, Zeinali S, Fortina P, Uitto J. Youssefian L, et al. Among authors: fortina p. Hum Mutat. 2019 Mar;40(3):288-298. doi: 10.1002/humu.23695. Epub 2019 Jan 16. Hum Mutat. 2019. PMID: 30578701
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Youssefian L, Saeidian AH, Palizban F, Bagherieh A, Abdollahimajd F, Sotoudeh S, Mozafari N, Farahani RA, Mahmoudi H, Babashah S, Zabihi M, Zeinali S, Fortina P, Salas-Alanis JC, South AP, Vahidnezhad H, Uitto J. Youssefian L, et al. Among authors: fortina p. Clin Chem. 2021 Jun 1;67(6):876-888. doi: 10.1093/clinchem/hvab042. Clin Chem. 2021. PMID: 33969388 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: fortina p. 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.
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J. Youssefian L, et al. Among authors: fortina p. Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942. Clin Infect Dis. 2019. PMID: 30778533 Free PMC article.
216 results