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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: touati a. 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.
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: touati a. 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: touati a. Exp Dermatol. 2019 Oct;28(10):1118-1121. doi: 10.1111/exd.13501. Epub 2018 Feb 19. Exp Dermatol. 2019. PMID: 29364557
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J. Vahidnezhad H, et al. Among authors: touati a. Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3. Hum Mutat. 2018. PMID: 30016581
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: touati a. 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
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: touati a. Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18. Matrix Biol. 2019. PMID: 30463024 Free article.
233 results