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Page 1
Loss of normal anagen hair in pemphigus vulgaris.
Daneshpazhooh M, Mahmoudi HR, Rezakhani S, Valikhani M, Naraghi ZS, Mohammadi Y, Habibi A, Chams-Davatchi C. Daneshpazhooh M, et al. Among authors: mahmoudi hr. Clin Exp Dermatol. 2015 Jul;40(5):485-8. doi: 10.1111/ced.12595. Epub 2015 Feb 16. Clin Exp Dermatol. 2015. PMID: 25689629
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: mahmoudi h. 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: mahmoudi h. 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: mahmoudi h. Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11. Matrix Biol. 2018. PMID: 29138120
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, Sotoudeh S, Norouz-Zadeh S, Amirinezhad N, Mozafari N, Daneshpazhooh M, Mahmoudi H, Hamid M, Bradfield JP, Kim CE, Hakonarson H, Uitto J. Vahidnezhad H, et al. Among authors: mahmoudi h. Exp Dermatol. 2019 Oct;28(10):1118-1121. doi: 10.1111/exd.13501. Epub 2018 Feb 19. Exp Dermatol. 2019. PMID: 29364557
Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.
Youssefian L, Vahidnezhad H, Mahmoudi H, Saeidian AH, Daneshpazhooh M, Kamyab Hesari K, Zeinali S, de Jong SJ, Orth G, Blanchet-Bardon C, Jouanguy E, Casanova JL, Uitto J. Youssefian L, et al. Among authors: mahmoudi h. J Invest Dermatol. 2019 Jan;139(1):241-244. doi: 10.1016/j.jid.2018.07.010. Epub 2018 Jul 20. J Invest Dermatol. 2019. PMID: 30036492 Free article. No abstract available.
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: mahmoudi h. 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.
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: mahmoudi h. Hum Mutat. 2019 Mar;40(3):288-298. doi: 10.1002/humu.23695. Epub 2019 Jan 16. Hum Mutat. 2019. PMID: 30578701
306 results