Etiology
Martin ES,
Ferrer A,
Mangaonkar AA,
Khan SP,
Kohorst MA,
Joshi AY,
Hogan WJ,
Olteanu H,
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Al-Kali A,
Tefferi A,
Chen D,
Wudhikarn K,
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Viswanatha D,
He R,
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Ulirsch JC,
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Kazerounian S,
Guo MH,
Yuan D,
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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
Am J Hum Genet
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Diagnosis
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Vlachos A,
Farrar JE,
Da Costa LM,
Kattamis A,
Dianzani I,
Belendez C,
Unal S,
Tamary H,
Pasauliene R,
Pospisilova D,
de la Fuente J,
Iskander D,
Wolfe L,
Liu JM,
Shimamura A,
Albrecht K,
Lausen B,
Bechensteen AG,
Tedgard U,
Puzik A,
Quarello P,
Ramenghi U,
Bartels M,
Hengartner H,
Farah RA,
Al Saleh M,
Hamidieh AA,
Yang W,
Ito E,
Kook H,
Ovsyannikova G,
Kager L,
Gleizes PE,
Dalle JH,
Strahm B,
Niemeyer CM,
Lipton JM,
Leblanc TM;
international Diamond-Blackfan anaemia syndrome guideline panel
Lancet Haematol
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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
Am J Hum Genet
2018 Dec 6;103(6):930-947.
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Ito E,
Konno Y,
Toki T,
Terui K
Int J Hematol
2010 Oct;92(3):413-8.
Epub 2010 Sep 30
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Dianzani I,
Garelli E,
Ramenghi U
Paediatr Drugs
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Koch WC,
Massey GV
Pediatr Rev
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Therapy
Duncan BB,
Lotter JL,
Superata J,
Barranta ME,
Machado T,
Darden I,
Venugopal S,
Wu CO,
Abkowitz JL,
Dunbar CE,
Young DJ
Br J Haematol
2024 May;204(5):2077-2085.
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Macečková Z,
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Wilkes MC,
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Chen J,
Varetti G,
Youn MY,
Chae H,
Ek F,
Olsson R,
Lundbäck T,
Dever DP,
Nishimura T,
Narla A,
Glader B,
Nakauchi H,
Porteus MH,
Repellin CE,
Gazda HT,
Lin S,
Serrano M,
Flygare J,
Sakamoto KM
Nat Commun
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Babushok DV,
Bessler M
Best Pract Res Clin Haematol
2015 Mar;28(1):55-68.
Epub 2014 Nov 12
doi: 10.1016/j.beha.2014.11.004.
PMID: 25659730Free PMC Article
Dianzani I,
Garelli E,
Ramenghi U
Paediatr Drugs
2000 Sep-Oct;2(5):345-55.
doi: 10.2165/00128072-200002050-00002.
PMID: 11022796
Prognosis
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
Am J Hum Genet
2018 Dec 6;103(6):930-947.
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van Dooijeweert B,
van Ommen CH,
Smiers FJ,
Tamminga RYJ,
Te Loo MW,
Donker AE,
Peters M,
Granzen B,
Gille HJJP,
Bierings MB,
MacInnes AW,
Bartels M
Eur J Haematol
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Howell JC,
Joshi SA,
Hornung L,
Khoury J,
Harris RE,
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Pediatr Blood Cancer
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Da Costa L,
Moniz H,
Simansour M,
Tchernia G,
Mohandas N,
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Transfus Clin Biol
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Koch WC,
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Pediatr Rev
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Clinical prediction guides
Gianferante MD,
Wlodarski MW,
Atsidaftos E,
Da Costa L,
Delaporta P,
Farrar JE,
Goldman FD,
Hussain M,
Kattamis A,
Leblanc T,
Lipton JM,
Niemeyer CM,
Pospisilova D,
Quarello P,
Ramenghi U,
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Vlachos A,
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Haematologica
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Wilkes MC,
Siva K,
Chen J,
Varetti G,
Youn MY,
Chae H,
Ek F,
Olsson R,
Lundbäck T,
Dever DP,
Nishimura T,
Narla A,
Glader B,
Nakauchi H,
Porteus MH,
Repellin CE,
Gazda HT,
Lin S,
Serrano M,
Flygare J,
Sakamoto KM
Nat Commun
2020 Jul 3;11(1):3344.
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PMID: 32620751Free PMC Article
Volejnikova J,
Vojta P,
Urbankova H,
Mojzíkova R,
Horvathova M,
Hochova I,
Cermak J,
Blatny J,
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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
Am J Hum Genet
2018 Dec 6;103(6):930-947.
Epub 2018 Nov 29
doi: 10.1016/j.ajhg.2018.10.027.
PMID: 30503522Free PMC Article
Dianzani I,
Garelli E,
Ramenghi U
Paediatr Drugs
2000 Sep-Oct;2(5):345-55.
doi: 10.2165/00128072-200002050-00002.
PMID: 11022796