Below are the most recent publications written about "Consanguinity" by people in Profiles.
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Saeidian AH, Youssefian L, Huang CY, Palizban F, Naji M, Saffarian Z, Mahmoudi H, Goodarzi A, Sotoudeh S, Vahidnezhad F, Amani M, Tavakoli N, Ajami A, Mozafarpoor S, Teimoorian M, Dorgaleleh S, Shokri S, Shenagari M, Abedi N, Zeinali S, Fortina P, Béziat V, Jouanguy E, Casanova JL, Uitto J, Vahidnezhad H. Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. JCI Insight. 2022 Apr 22; 7(8).
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Youssefian L, Touati A, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J. Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. Br J Dermatol. 2018 03; 178(3):e219-e221.
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Youssefian L, Vahidnezhad H, Aghighi Y, Ziaee V, Zeinali S, Abiri M, Uitto J. Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. Acta Derm Venereol. 2017 01 04; 97(1):108-109.
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Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May; 84(5):594-604.
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Schara U, Tücke J, Mortier W, Nüsslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schröder R. Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Eur J Pediatr. 2004 Apr; 163(4-5):218-22.
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Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol. 2002 Apr; 46(4):510-6.