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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: matysiak m. 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.
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: matysiak m. 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: matysiak m. 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: matysiak m. 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.
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S. Gagne KE, et al. Among authors: matysiak m. Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15. Blood. 2014. PMID: 24735966 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: matysiak m. 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.
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: matysiak m. 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.
Additional genetic risk factor for death in children with acute lymphoblastic leukemia: a common polymorphism of the MTHFR gene.
Pietrzyk JJ, Bik-Multanowski M, Balwierz W, Skoczen S, Wojcik D, Chybicka A, Sikorska-Fic B, Matysiak M, Szczepanski T, Sonta-Jakimczyk D, Ploszynska A, Balcerska A, Mycko K, Bodalski J, Krawczuk-Rybak M, Kowalczyk J, Koltan A, Sobol G, Derwich K, Kwinta P. Pietrzyk JJ, et al. Among authors: matysiak m. Pediatr Blood Cancer. 2009 Mar;52(3):364-8. doi: 10.1002/pbc.21815. Pediatr Blood Cancer. 2009. PMID: 18989887
First-line immunosuppressive treatment in children with aplastic anemia: rabbit antithymocyte globulin.
Pawelec K, Salamonowicz M, Panasiuk A, Demkow U, Kowalczyk J, Balwierz W, Zaleska-Czepko E, Chybicka A, Szmyd K, Szczepanski T, Bubala H, Wysocki M, Kurylak A, Wachowiak J, Szpecht D, Młynarski W, Bulas M, Krawczuk-Rybak M, Leszczynska E, Urasinski T, Peregud-Pogorzelski J, Balcerska A, Kaczorowska-Hac B, Matysiak M. Pawelec K, et al. Among authors: matysiak m. Adv Exp Med Biol. 2015;836:55-62. doi: 10.1007/5584_2014_38. Adv Exp Med Biol. 2015. PMID: 25310948
Polymorphism in IKZF1 gene affects age at onset of childhood acute lymphoblastic leukemia.
Górniak P, Pastorczak A, Zalewska-Szewczyk B, Lejman M, Trelińska J, Chmielewska M, Sokół-Jeżewska A, Kowalczyk J, Szczepanski T, Matysiak M, Kazanowska B, Mlynarski W; Polish Pediatric Leukemia/Lymphoma Study Group. Górniak P, et al. Among authors: matysiak m. Leuk Lymphoma. 2014 Sep;55(9):2174-8. doi: 10.3109/10428194.2013.866661. Epub 2014 Apr 2. Leuk Lymphoma. 2014. PMID: 24597983
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