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    Results: 1 to 20 of 90

    1.

    Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

    Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J.

    PLoS One. 2009 Jul 9;4(7):e6172.PMID: 19587786 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.

    Pavesi E, Avondo F, Aspesi A, Quarello P, Rocci A, Vimercati C, Pigullo S, Dufour C, Ramenghi U, Dianzani I.

    Pediatr Blood Cancer. 2009 Sep;53(3):411-6.PMID: 19489057 [PubMed - indexed for MEDLINE]Related articles

    3.

    Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.

    Badhai J, Fröjmark AS, Razzaghian HR, Davey E, Schuster J, Dahl N.

    FEBS Lett. 2009 Jun 18;583(12):2049-53. Epub 2009 May 18.PMID: 19454283 [PubMed - indexed for MEDLINE]Related articles

    4.

    Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.

    Lipton JM, Ellis SR.

    Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. Review.PMID: 19327583 [PubMed - indexed for MEDLINE]Related articles

    5.

    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.PMID: 19191325 [PubMed - indexed for MEDLINE]Related articles

    6.

    Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia.

    Kuze M, Matsubara H, Uji Y.

    Jpn J Ophthalmol. 2009 Jan;53(1):67-8. Epub 2009 Jan 30. No abstract available. PMID: 19184317 [PubMed - indexed for MEDLINE]Related articles

    7.

    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.PMID: 19061985 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Diamond-Blackfan anemia: a ribosomal puzzle.

    Dianzani I, Loreni F.

    Haematologica. 2008 Nov;93(11):1601-4. No abstract available. PMID: 18978295 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.

    Quarello P, Garelli E, Brusco A, Carando A, Pappi P, Barberis M, Coletti V, Campagnoli MF, Dianzani I, Ramenghi U.

    Haematologica. 2008 Nov;93(11):1748-50. Epub 2008 Oct 2. No abstract available. PMID: 18835835 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    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. Epub 2008 Sep 24.PMID: 18815190 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

    Boria I, Quarello P, Avondo F, Garelli E, Aspesi A, Carando A, Campagnoli MF, Dianzani I, Ramenghi U.

    Hum Mutat. 2008 Nov;29(11):E263-70.PMID: 18781615 [PubMed - indexed for MEDLINE]Related articles

    12.

    Congenital erythroid and myeloid hypoplasia terminating myelodysplastic syndrome.

    Nishio N, Yagasaki H, Takahashi Y, Muramatsu H, Hama A, Xu Y, Villalobos IB, Kojima S.

    J Pediatr Hematol Oncol. 2008 Sep;30(9):692-5.PMID: 18776763 [PubMed - indexed for MEDLINE]Related articles

    13.

    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. Epub 2008 Sep 2.PMID: 18768533 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation.

    Flygare J, Olsson K, Richter J, Karlsson S.

    Exp Hematol. 2008 Nov;36(11):1428-35. Epub 2008 Aug 19.PMID: 18715690 [PubMed - indexed for MEDLINE]Related articles

    15.

    The role of human ribosomal proteins in the maturation of rRNA and ribosome production.

    Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M.

    RNA. 2008 Sep;14(9):1918-29. Epub 2008 Aug 12.PMID: 18697920 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.

    Uechi T, Nakajima Y, Chakraborty A, Torihara H, Higa S, Kenmochi N.

    Hum Mol Genet. 2008 Oct 15;17(20):3204-11. Epub 2008 Jul 24.PMID: 18653748 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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 Jr, 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 1;112(5):1582-92. Epub 2008 Jun 5.PMID: 18535205 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    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. Review.PMID: 18412286 [PubMed - indexed for MEDLINE]Related articles

    19.

    Anesthetic management in a child with Diamond-Blackfan anemia.

    Katircioglu K, Ozturk Kavrut N, Ozkalkanli MY, Savaci S.

    Paediatr Anaesth. 2008 Jun;18(6):574-5. Epub 2008 Feb 28. No abstract available. PMID: 18312511 [PubMed - indexed for MEDLINE]Related articles

    20.

    Diamond Blackfan anemia: a disorder of red blood cell development.

    Ellis SR, Lipton JM.

    Curr Top Dev Biol. 2008;82:217-41. Review.PMID: 18282522 [PubMed - indexed for MEDLINE]Related articles

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