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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Palmer CN, et al. Among authors: mcelreavey k. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550169
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A. Portnoi MF, et al. Among authors: mcelreavey k. Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037. Hum Mol Genet. 2018. PMID: 29373757 Free PMC article. Clinical Trial.
Novel mutations involving the INSL3 gene associated with cryptorchidism.
El Houate B, Rouba H, Sibai H, Barakat A, Chafik A, Chadli el B, Imken L, Bogatcheva NV, Feng S, Agoulnik AI, McElreavey K. El Houate B, et al. Among authors: mcelreavey k. J Urol. 2007 May;177(5):1947-51. doi: 10.1016/j.juro.2007.01.002. J Urol. 2007. PMID: 17437853
Y-chromosome AZFc structural architecture and relationship to male fertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K. Ravel C, et al. Among authors: mcelreavey k. Fertil Steril. 2009 Dec;92(6):1924-33. doi: 10.1016/j.fertnstert.2008.08.135. Epub 2008 Nov 6. Fertil Steril. 2009. PMID: 18990391 Free article.
Mutations in the protamine 1 gene associated with male infertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Berthaut I, Verstraete L, De Larouziere V, Lourenço D, Dumaine A, Antoine JM, Mandelbaum J, Siffroi JP, McElreavey K. Ravel C, et al. Among authors: mcelreavey k. Mol Hum Reprod. 2007 Jul;13(7):461-4. doi: 10.1093/molehr/gam031. Epub 2007 May 9. Mol Hum Reprod. 2007. PMID: 17494104
243 results