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Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A. He H, et al. Among authors: symer de, de la chapelle a. Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587. Science. 2011. PMID: 21474760 Free PMC article.
SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.
He H, Bronisz A, Liyanarachchi S, Nagy R, Li W, Huang Y, Akagi K, Saji M, Kula D, Wojcicka A, Sebastian N, Wen B, Puch Z, Kalemba M, Stachlewska E, Czetwertynska M, Dlugosinska J, Dymecka K, Ploski R, Krawczyk M, Morrison PJ, Ringel MD, Kloos RT, Jazdzewski K, Symer DE, Vieland VJ, Ostrowski M, Jarząb B, de la Chapelle A. He H, et al. Among authors: symer de, de la chapelle a. J Clin Endocrinol Metab. 2013 May;98(5):E973-80. doi: 10.1210/jc.2012-3823. Epub 2013 Mar 28. J Clin Endocrinol Metab. 2013. PMID: 23539728 Free PMC article.
Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.
He H, Li W, Wu D, Nagy R, Liyanarachchi S, Akagi K, Jendrzejewski J, Jiao H, Hoag K, Wen B, Srinivas M, Waidyaratne G, Wang R, Wojcicka A, Lattimer IR, Stachlewska E, Czetwertynska M, Dlugosinska J, Gierlikowski W, Ploski R, Krawczyk M, Jazdzewski K, Kere J, Symer DE, Jin V, Wang Q, de la Chapelle A. He H, et al. Among authors: symer de, de la chapelle a. PLoS One. 2013 May 14;8(5):e61920. doi: 10.1371/journal.pone.0061920. Print 2013. PLoS One. 2013. PMID: 23690926 Free PMC article.
45 results