353 related articles for article (PubMed ID: 17647292)
1. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
Cmejla R; Cmejlova J; Handrkova H; Petrak J; Pospisilova D
Hum Mutat; 2007 Dec; 28(12):1178-82. PubMed ID: 17647292
[TBL] [Abstract][Full Text] [Related]
2. A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
Song MJ; Yoo EH; Lee KO; Kim GN; Kim HJ; Kim SY; Kim SH
Pediatr Blood Cancer; 2010 Apr; 54(4):629-31. PubMed ID: 19953637
[TBL] [Abstract][Full Text] [Related]
3. 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
Am J Hum Genet; 2008 Dec; 83(6):769-80. PubMed ID: 19061985
[TBL] [Abstract][Full Text] [Related]
4. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
Gazda HT; Grabowska A; Merida-Long LB; Latawiec E; Schneider HE; Lipton JM; Vlachos A; Atsidaftos E; Ball SE; Orfali KA; Niewiadomska E; Da Costa L; Tchernia G; Niemeyer C; Meerpohl JJ; Stahl J; Schratt G; Glader B; Backer K; Wong C; Nathan DG; Beggs AH; Sieff CA
Am J Hum Genet; 2006 Dec; 79(6):1110-8. PubMed ID: 17186470
[TBL] [Abstract][Full Text] [Related]
5. Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia.
Cmejlova J; Cerna Z; Votava T; Pospisilova D; Cmejla R
Blood Cells Mol Dis; 2006; 36(3):337-41. PubMed ID: 16531079
[TBL] [Abstract][Full Text] [Related]
6. Translational efficiency in patients with Diamond-Blackfan anemia.
Cmejlova J; Dolezalova L; Pospisilova D; Petrtylova K; Petrak J; Cmejla R
Haematologica; 2006 Nov; 91(11):1456-64. PubMed ID: 17082006
[TBL] [Abstract][Full Text] [Related]
7. Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.
Zhang Y; Ear J; Yang Z; Morimoto K; Zhang B; Lin S
Cell Death Dis; 2014 Jul; 5(7):e1352. PubMed ID: 25058426
[TBL] [Abstract][Full Text] [Related]
8. A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia.
Zhang JY; Jia M; Zhao HZ; Luo ZB; Xu WQ; Shen HP; Tang YM
Blood Cells Mol Dis; 2016 Nov; 62():1-5. PubMed ID: 27732904
[TBL] [Abstract][Full Text] [Related]
9. [Diagnostic targets and exosome sequence analysis of Diamond-Blackfan anemia in Japan].
Toki T; Ito E
Rinsho Ketsueki; 2018; 59(7):945-952. PubMed ID: 30078807
[TBL] [Abstract][Full Text] [Related]
10. [Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].
Toki T; Ito E
Rinsho Ketsueki; 2015 Jul; 56(7):867-76. PubMed ID: 26251151
[TBL] [Abstract][Full Text] [Related]
11. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Farrar JE; Nater M; Caywood E; McDevitt MA; Kowalski J; Takemoto CM; Talbot CC; Meltzer P; Esposito D; Beggs AH; Schneider HE; Grabowska A; Ball SE; Niewiadomska E; Sieff CA; Vlachos A; Atsidaftos E; Ellis SR; Lipton JM; Gazda HT; Arceci RJ
Blood; 2008 Sep; 112(5):1582-92. PubMed ID: 18535205
[TBL] [Abstract][Full Text] [Related]
12. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Cmejla R; Cmejlova J; Handrkova H; Petrak J; Petrtylova K; Mihal V; Stary J; Cerna Z; Jabali Y; Pospisilova D
Hum Mutat; 2009 Mar; 30(3):321-7. PubMed ID: 19191325
[TBL] [Abstract][Full Text] [Related]
13. RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF; Ramenghi U; Armiraglio M; Quarello P; Garelli E; Carando A; Avondo F; Pavesi E; Fribourg S; Gleizes PE; Loreni F; Dianzani I
Hum Mutat; 2008 Jul; 29(7):911-20. PubMed ID: 18412286
[TBL] [Abstract][Full Text] [Related]
14. 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
Hum Genet; 2013 Nov; 132(11):1265-74. PubMed ID: 23812780
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.
Yazaki M; Kamei M; Ito Y; Konno Y; Wang R; Toki T; Ito E
J Pediatr Hematol Oncol; 2012 May; 34(4):293-5. PubMed ID: 22510774
[TBL] [Abstract][Full Text] [Related]
16. Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
Chae H; Park J; Lee S; Kim M; Kim Y; Lee JW; Chung NG; Cho B; Jeong DC; Kim J; Kim JR; Park G
Exp Mol Med; 2014 Mar; 46(3):e88. PubMed ID: 24675553
[TBL] [Abstract][Full Text] [Related]
17. Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
Farrar JE; Dahl N
Semin Hematol; 2011 Apr; 48(2):124-35. PubMed ID: 21435509
[TBL] [Abstract][Full Text] [Related]
18. Disorders of sex development and Diamond-Blackfan anemia: is there an association?
Hoefele J; Bertrand AM; Stehr M; Leblanc T; Tchernia G; Simansour M; Mignot B; Alberer M; Schwarz HP; Da Costa L;
Pediatr Nephrol; 2010 Jul; 25(7):1255-61. PubMed ID: 20358230
[TBL] [Abstract][Full Text] [Related]
19. [Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia].
Chen YM; Ruan M; Zou Y; Guo Y; Wang SC; Chen XJ; Zhang L; Liu TF; Zhu XF
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2012 Dec; 20(6):1414-8. PubMed ID: 23257444
[TBL] [Abstract][Full Text] [Related]
20. Diamond-Blackfan anemia, ribosome and erythropoiesis.
Da Costa L; Moniz H; Simansour M; Tchernia G; Mohandas N; Leblanc T
Transfus Clin Biol; 2010 Sep; 17(3):112-9. PubMed ID: 20655265
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]