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Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.
Hubert FX, Kinkel SA, Crewther PE, Cannon PZ, Webster KE, Link M, Uibo R, O'Bryan MK, Meager A, Forehan SP, Smyth GK, Mittaz L, Antonarakis SE, Peterson P, Heath WR, Scott HS. Hubert FX, et al. Among authors: antonarakis se. J Immunol. 2009 Mar 15;182(6):3902-18. doi: 10.4049/jimmunol.0802124. J Immunol. 2009. PMID: 19265170
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.
Webster KE, O'Bryan MK, Fletcher S, Crewther PE, Aapola U, Craig J, Harrison DK, Aung H, Phutikanit N, Lyle R, Meachem SJ, Antonarakis SE, de Kretser DM, Hedger MP, Peterson P, Carroll BJ, Scott HS. Webster KE, et al. Among authors: antonarakis se. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4068-73. doi: 10.1073/pnas.0500702102. Epub 2005 Mar 7. Proc Natl Acad Sci U S A. 2005. PMID: 15753313 Free PMC article.
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS. Michaud J, et al. Among authors: antonarakis se. Blood. 2002 Feb 15;99(4):1364-72. doi: 10.1182/blood.v99.4.1364. Blood. 2002. PMID: 11830488 Free article.
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE. Wattenhofer M, et al. Among authors: antonarakis se. J Mol Med (Berl). 2002 Feb;80(2):124-31. doi: 10.1007/s00109-001-0310-6. Epub 2001 Dec 18. J Mol Med (Berl). 2002. PMID: 11907649
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee.
White JA, McAlpine PJ, Antonarakis S, Cann H, Eppig JT, Frazer K, Frezal J, Lancet D, Nahmias J, Pearson P, Peters J, Scott A, Scott H, Spurr N, Talbot C Jr, Povey S. White JA, et al. Genomics. 1997 Oct 15;45(2):468-71. doi: 10.1006/geno.1997.4979. Genomics. 1997. PMID: 9344684 Free article. No abstract available.
656 results