Chen(Yu-Mei),Ruan(Min),Zou(Yao),Guo(Ye),Wa... Zhongguo Shi Yan Xue Ye Xue... 2013-12-13

...RPL35a, RPS10 and RPS26. The results found that 8 patients (38.1%) with DBA had mutations in the genes coding for riboso...

Quarello(Paola),Garelli(Emanuela),Brusco(A... Haematologica 2013-12-10

...RPL35A. Using this assay we showed that deletions represent approximately 20% of all mutations. The combination of seque...

Yazaki(Makoto),Kamei(Michi),Ito(Yasuhiko),... J Pediatr Hematol Oncol 2012-06-18

...RPL35A, RPL5, RPL11, and RPS7. Recently, 5 and 12 patients with mutations in RPS10 and RPS26, respectively, were identif...

Farrar(Jason E),Vlachos(Adrianna),Atsidaft... Blood 2012-03-20

...RPL35A. No recurrent regions of copy variation at novel loci were identified. Because RPS17 is a duplicated gene with 4 ...

Kuramitsu(Madoka),Sato-Otsubo(Aiko),Morio(... Blood 2012-05-21

...RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26. We developed an easy method based on quantitative-PCR in which the ...

Konno(Yuki),Toki(Tsutomu),Tandai(Satoru),X... Haematologica 2011-03-08

...RPL35A. RPS14 was also examined due to its implied involvement in 5q- syndrome.,Mutations in RPS19, RPL5, RPL11 and RPS1...

Farrar(Jason E),Dahl(Niklas) Semin Hematol 2011-10-13

...RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients. Despite significant progress, id...

Hoefele(Julia),Bertrand(Anne-Marie),Stehr(... Pediatr Nephrol 2010-08-26

...RPL35a, RPL36, RPL11, and RPL5, have also been found in patients with DBA. Approximately 30-40% of affected patients hav...

Babiano(Reyes),de la Cruz(Jesús) Nucleic Acids Res 2010-09-29

...RPL35A leads to similar although less pronounced phenotypes. Moreover, we show that L35 assembles in the nucleolus and b...

Doherty(Leana),Sheen(Mee Rie),Vlachos(Adri... Am J Hum Genet 2010-03-19

...RPL35A, RPL5, RPL11, and RPS7, in about 43% of patients. To continue our large-scale screen of RP genes in a DBA populat...