390 related articles for article (PubMed ID: 29044489)
1. Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA; Cuvelier G; Klaassen RJ; Fernandez CV; Robitaille N; Steele M; Breakey V; Abish S; Wu J; Sinha R; Silva M; Goodyear L; Jardine L; Lipton JH; Corriveau-Bourque C; Brossard J; Michon B; Ghemlas I; Waespe N; Zlateska B; Sung L; Cada M; Dror Y
Clin Genet; 2018 Feb; 93(2):320-328. PubMed ID: 29044489
[TBL] [Abstract][Full Text] [Related]
2. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P; Garelli E; Carando A; Brusco A; Calabrese R; Dufour C; Longoni D; Misuraca A; Vinti L; Aspesi A; Biondini L; Loreni F; Dianzani I; Ramenghi U
Haematologica; 2010 Feb; 95(2):206-13. PubMed ID: 19773262
[TBL] [Abstract][Full Text] [Related]
3. Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
Delaporta P; Sofocleous C; Stiakaki E; Polychronopoulou S; Economou M; Kossiva L; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2014 Dec; 61(12):2249-55. PubMed ID: 25132370
[TBL] [Abstract][Full Text] [Related]
4. Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS; Mersiyanova IV; Kurnikova MA; Ovsyannikova GS; Hachatryan LA; Bobrynina VO; Maschan MA; Novichkova GA; Lipton JM; Maschan AA
Pediatr Blood Cancer; 2015 Sep; 62(9):1597-600. PubMed ID: 25946618
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Konno Y; Toki T; Tandai S; Xu G; Wang R; Terui K; Ohga S; Hara T; Hama A; Kojima S; Hasegawa D; Kosaka Y; Yanagisawa R; Koike K; Kanai R; Imai T; Hongo T; Park MJ; Sugita K; Ito E
Haematologica; 2010 Aug; 95(8):1293-9. PubMed ID: 20378560
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E; Vetro A; Mina T; Wischmeijer A; Berrino E; Carella M; Romagnoli M; Sacchini P; Venesio T; Zecca M; Zuffardi O
Blood Cells Mol Dis; 2017 May; 64():38-44. PubMed ID: 28376382
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. 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]
11. The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.
Vogel N; Schmugge M; Renella R; Waespe N; Hengartner H;
Eur J Pediatr; 2021 Dec; 180(12):3581-3585. PubMed ID: 34110484
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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
Am J Hum Genet; 2018 Dec; 103(6):930-947. PubMed ID: 30503522
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.
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; 2018 Feb; 100(2):163-170. PubMed ID: 29114930
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]