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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. Chater-Diehl E, et al. Among authors: bedford m. BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y. BMC Med Genomics. 2019. PMID: 31288860 Free PMC article.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Böhm J, et al. Among authors: bedford m. Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22396310 Free PMC article.
A six-month-old infant with liver steatosis.
Stormon MO, Cutz E, Furuya K, Bedford M, Yerkes L, Tolan DR, Feigenbaum A. Stormon MO, et al. Among authors: bedford m. J Pediatr. 2004 Feb;144(2):258-63. doi: 10.1016/j.jpeds.2003.11.037. J Pediatr. 2004. PMID: 14760272 Free PMC article. No abstract available.
Genome-wide screening identifies Trim33 as an essential regulator of dendritic cell differentiation.
Tiniakou I, Hsu PF, Lopez-Zepeda LS, Garipler G, Esteva E, Adams NM, Jang G, Soni C, Lau CM, Liu F, Khodadadi-Jamayran A, Rodrick TC, Jones D, Tsirigos A, Ohler U, Bedford MT, Nimer SD, Kaartinen V, Mazzoni EO, Reizis B. Tiniakou I, et al. Among authors: bedford mt. Sci Immunol. 2024 Apr 12;9(94):eadi1023. doi: 10.1126/sciimmunol.adi1023. Epub 2024 Apr 12. Sci Immunol. 2024. PMID: 38608038
550 results