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Page 1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Landowski M, O'Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT. Landowski M, et al. Among authors: newburger pe. Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30. Hum Genet. 2013. PMID: 23812780 Free PMC article.
The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Ulirsch JC, et al. Among authors: newburger pe. Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503522 Free PMC article.
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Gazda HT, et al. Among authors: newburger pe. Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004. Am J Hum Genet. 2008. PMID: 19061985 Free PMC article.
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT. Doherty L, et al. Among authors: newburger pe. Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Am J Hum Genet. 2010. PMID: 20116044 Free PMC article.
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Gazda HT, et al. Among authors: newburger pe. Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22431104 Free PMC article.
The Genetic Landscape of Diamond-Blackfan Anemia.
Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. Ulirsch JC, et al. Among authors: newburger pe. Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. Am J Hum Genet. 2019. PMID: 30735661 Free PMC article. No abstract available.
In memoriam: Robert J. Arceci.
Lipton JM, Newburger PE. Lipton JM, et al. Among authors: newburger pe. Pediatr Blood Cancer. 2015 Aug;62(8):iii. doi: 10.1002/pbc.25665. Epub 2015 Jun 23. Pediatr Blood Cancer. 2015. PMID: 26104864 No abstract available.
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
Gallagher PG, Maksimova Y, Lezon-Geyda K, Newburger PE, Medeiros D, Hanson RD, Rothman J, Israels S, Wall DA, Sidonio RF Jr, Sieff C, Gowans LK, Mittal N, Rivera-Santiago R, Speicher DW, Baserga SJ, Schulz VP. Gallagher PG, et al. Among authors: newburger pe. J Clin Invest. 2019 Apr 30;129(7):2878-2887. doi: 10.1172/JCI127195. J Clin Invest. 2019. PMID: 31038472 Free PMC article.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Bianchi P, et al. Among authors: newburger pe. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. Am J Hematol. 2020. PMID: 32043619 Free PMC article.
189 results