Below are the most recent publications written about "Genes, Recessive" by people in Profiles.
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Saeidian AH, Youssefian L, Rosales-Solis GM, Vahidnezhad H, Atanasova VS, Uitto J, South AP, Salas-Alanis JC. First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. Clin Exp Dermatol. 2018 Aug; 43(6):719-722.
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Uitto J, Youssefian L, Vahidnezhad H. Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. Br J Dermatol. 2017 08; 177(2):342-343.
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Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 4; 95(3):308-14.
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Gragnoli C. Proteasome modulator 9 is linked to microvascular pathology of T2D. J Cell Physiol. 2012 Aug; 227(8):3116-8.
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Uitto J. In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive. Acta Derm Venereol. 2011 May; 91(3):259-61.
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LaRusso J, Li Q, Uitto J. Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help? J Dtsch Dermatol Ges. 2011 Aug; 9(8):586-93.
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Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SK, Bönnemann CG, Chu ML. Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. J Biol Chem. 2010 Mar 26; 285(13):10005-15.
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Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007 Oct; 44(10):621-8.
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Uitto J, Jiang Q. Pseudoxanthoma elasticum-like phenotypes: more diseases than one. J Invest Dermatol. 2007 Mar; 127(3):507-10.
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Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007 Mar; 44(3):181-92.