339 related articles for article (PubMed ID: 30078807)
1. [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]
2. 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]
3. [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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L; Sheen MR; Vlachos A; Choesmel V; O'Donohue MF; Clinton C; Schneider HE; Sieff CA; Newburger PE; Ball SE; Niewiadomska E; Matysiak M; Glader B; Arceci RJ; Farrar JE; Atsidaftos E; Lipton JM; Gleizes PE; Gazda HT
Am J Hum Genet; 2010 Feb; 86(2):222-8. PubMed ID: 20116044
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa L; O'Donohue MF; van Dooijeweert B; Albrecht K; Unal S; Ramenghi U; Leblanc T; Dianzani I; Tamary H; Bartels M; Gleizes PE; Wlodarski M; MacInnes AW
Eur J Med Genet; 2018 Nov; 61(11):664-673. PubMed ID: 29081386
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L; Mohandas N; David-NGuyen L; Platon J; Marie I; O'Donohue MF; Leblanc T; Gleizes PE
Blood Cells Mol Dis; 2024 May; 106():102838. PubMed ID: 38413287
[TBL] [Abstract][Full Text] [Related]
14. Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
Steinberg-Shemer O; Keel S; Dgany O; Walsh T; Noy-Lotan S; Krasnov T; Yacobovich J; Quarello P; Ramenghi U; King MC; Shimamura A; Tamary H
J Pediatr Hematol Oncol; 2016 Oct; 38(7):e260-2. PubMed ID: 27258031
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.
Da Costa L; Narla A; Mohandas N
F1000Res; 2018; 7():. PubMed ID: 30228860
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia.
Fedorova D; Ovsyannikova G; Kurnikova M; Pavlova A; Konyukhova T; Pshonkin A; Smetanina N
Pediatr Blood Cancer; 2022 Apr; 69(4):e29558. PubMed ID: 35084091
[TBL] [Abstract][Full Text] [Related]
20. Ribosomal protein deficiency causes Tp53-independent erythropoiesis failure in zebrafish.
Yadav GV; Chakraborty A; Uechi T; Kenmochi N
Int J Biochem Cell Biol; 2014 Apr; 49():1-7. PubMed ID: 24417973
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
