230 related articles for article (PubMed ID: 21414820)
1. Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.
Cmejla R; Ludikova B; Sukova M; Blatny J; Pospisilova D
Blood Cells Mol Dis; 2011 Apr; 46(4):300-1. PubMed ID: 21414820
[No Abstract] [Full Text] [Related]
2. The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D; Cmejlova J; Ludikova B; Stary J; Cerna Z; Hak J; Timr P; Petrtylova K; Blatny J; Vokurka S; Cmejla R
Blood Cells Mol Dis; 2012 Apr; 48(4):209-18. PubMed ID: 22381658
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
Crétien A; Hurtaud C; Moniz H; Proust A; Marie I; Wagner-Ballon O; Choesmel V; Gleizes PE; Leblanc T; Delaunay J; Tchernia G; Mohandas N; Da Costa L
Haematologica; 2008 Nov; 93(11):1627-34. PubMed ID: 18768533
[TBL] [Abstract][Full Text] [Related]
5. Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Volejnikova J; Vojta P; Urbankova H; Mojzíkova R; Horvathova M; Hochova I; Cermak J; Blatny J; Sukova M; Bubanska E; Feketeova J; Prochazkova D; Horakova J; Hajduch M; Pospisilova D
Blood Cells Mol Dis; 2020 Mar; 81():102380. PubMed ID: 31855845
[TBL] [Abstract][Full Text] [Related]
6. Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.
Rey MA; Duffy SP; Brown JK; Kennedy JA; Dick JE; Dror Y; Tailor CS
Haematologica; 2008 Nov; 93(11):1617-26. PubMed ID: 18815190
[TBL] [Abstract][Full Text] [Related]
7. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R; Yoshida K; Toki T; Sawada T; Uechi T; Okuno Y; Sato-Otsubo A; Kudo K; Kamimaki I; Kanezaki R; Shiraishi Y; Chiba K; Tanaka H; Terui K; Sato T; Iribe Y; Ohga S; Kuramitsu M; Hamaguchi I; Ohara A; Hara J; Goi K; Matsubara K; Koike K; Ishiguro A; Okamoto Y; Watanabe K; Kanno H; Kojima S; Miyano S; Kenmochi N; Ogawa S; Ito E
Br J Haematol; 2015 Mar; 168(6):854-64. PubMed ID: 25424902
[TBL] [Abstract][Full Text] [Related]
8. [Ribosomal protein in impaired erythropoiesis: Diamond-Blackfan anemia and 5q- syndrome].
Ito E
Rinsho Ketsueki; 2009 Oct; 50(10):1539-47. PubMed ID: 19915364
[No Abstract] [Full Text] [Related]
9. 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]
10. The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.
Morimoto K; Lin S; Sakamoto K
Mol Genet Metab; 2007 Apr; 90(4):358-62. PubMed ID: 17178250
[TBL] [Abstract][Full Text] [Related]
11. Diamond-Blackfan anemia: a ribosomal puzzle.
Dianzani I; Loreni F
Haematologica; 2008 Nov; 93(11):1601-4. PubMed ID: 18978295
[No Abstract] [Full Text] [Related]
12. Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia.
Gonçalves P; Pereira JC; Kidd AM; Ribeiro ML
Hum Genet; 2004 Nov; 115(6):534. PubMed ID: 15678589
[No Abstract] [Full Text] [Related]
13. [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]
14. High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
Quarello P; Garelli E; Brusco A; Carando A; Mancini C; Pappi P; Vinti L; Svahn J; Dianzani I; Ramenghi U
Haematologica; 2012 Dec; 97(12):1813-7. PubMed ID: 22689679
[TBL] [Abstract][Full Text] [Related]
15. Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report.
McFarren A; Jayabose S; Fevzi Ozkaynak M; Tugal O; Sandoval C
J Pediatr Hematol Oncol; 2007 May; 29(5):338-40. PubMed ID: 17483715
[TBL] [Abstract][Full Text] [Related]
16. Molecular basis of Diamond-Blackfan anaemia: what have we learnt so far? Review article.
Cmejla R; Cmejlová J
Sb Lek; 2003; 104(2):171-81. PubMed ID: 14577127
[TBL] [Abstract][Full Text] [Related]
17. Human gene mutations. Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia.
Pereira J; Sznajer Y; Ribeiro ML
Hum Genet; 2007 Sep; 122(2):213. PubMed ID: 18386371
[No Abstract] [Full Text] [Related]
18. Human gene mutations. Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia.
Pereira J; Molinés A; Ribeiro ML
Hum Genet; 2007 Sep; 122(2):213. PubMed ID: 18386370
[No Abstract] [Full Text] [Related]
19. Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.
Shi X; Huang X; Zhang Y; Cui X
BMC Med Genet; 2019 Jul; 20(1):120. PubMed ID: 31277601
[TBL] [Abstract][Full Text] [Related]
20. Diamond Blackfan anemia: A paradigm for a ribosome-based disease.
Ellis SR; Massey AT
Med Hypotheses; 2006; 66(3):643-8. PubMed ID: 16239073
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
