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Quoted phrase not found in phrase index: "Diamond-Blackfan anemia 12"
Page 1
Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children.
Gelbart D. Gelbart D. JAAPA. 2014 Apr;27(4):36-44. doi: 10.1097/01.JAA.0000442702.95598.fc. JAAPA. 2014. PMID: 24662257 Review.
Diamond-Blackfan anemia is a rare, inherited disease that characteristically presents as a chronic, normochromic macrocytosis due to red cell lineage bone marrow failure. ...This article offers a global perspective of the disease and compares it with anemi …
Diamond-Blackfan anemia is a rare, inherited disease that characteristically presents as a chronic, normochromic macroc …
The landscape of pediatric Diamond-Blackfan anemia in Switzerland: genotype and phenotype characteristics.
Vogel N, Schmugge M, Renella R, Waespe N, Hengartner H; Swiss Paediatric Oncology Group (SPOG) Hematology Working Group. Vogel N, et al. Eur J Pediatr. 2021 Dec;180(12):3581-3585. doi: 10.1007/s00431-021-04146-4. Epub 2021 Jun 10. Eur J Pediatr. 2021. PMID: 34110484
Diamond-Blackfan anemia (DBA) is caused mainly by genetic mutations in large (RPL) or small ribosomal subunit genes (RPS) and presents with macrocytic anemia and congenital malformations. ...What is Known? There is a large variation in the phenotype of …
Diamond-Blackfan anemia (DBA) is caused mainly by genetic mutations in large (RPL) or small ribosomal subunit genes (RP …
Preimplantation HLA testing.
Verlinsky Y, Rechitsky S, Sharapova T, Morris R, Taranissi M, Kuliev A. Verlinsky Y, et al. JAMA. 2004 May 5;291(17):2079-85. doi: 10.1001/jama.291.17.2079. JAMA. 2004. PMID: 15126435
DESIGN, SETTING, AND PARTICIPANTS: HLA matching procedures conducted at a single site during 2002-2003 in an in vitro fertilization program for 9 couples with children affected by acute lymphoid leukemia, acute myeloid leukemia, or Diamond-Blackfan anemia req …
DESIGN, SETTING, AND PARTICIPANTS: HLA matching procedures conducted at a single site during 2002-2003 in an in vitro fertilization program …
Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J, Su Y, Chen L, Lin Y, Ru K. Li J, et al. Int J Lab Hematol. 2023 Oct;45(5):766-773. doi: 10.1111/ijlh.14126. Epub 2023 Jun 28. Int J Lab Hematol. 2023. PMID: 37376976 Review.
INTRODUCTION: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroid aplasia, physical malformation, and cancer predisposition. ...The clinical features, treatment, and RPS10/RPS26 mutations were analyzed. R …
INTRODUCTION: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroi …
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.
Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM. Martin ES, et al. Am J Hematol. 2021 Nov 1;96(11):1450-1460. doi: 10.1002/ajh.26321. Epub 2021 Aug 27. Am J Hematol. 2021. PMID: 34390506 Free article.
Seventy-two (50%) patients had IBMFS (telomere biology disorders-32,Fanconi anemia-18, Diamond Blackfan Anemia - 11, congenital neutropenia-5, Schwachman-Diamond Syndrome-5 and Bloom Syndrome-1), 27 (19%) had GPS with antecedent thrombocytopenia …
Seventy-two (50%) patients had IBMFS (telomere biology disorders-32,Fanconi anemia-18, Diamond Blackfan Anemia - …
Diamond-Blackfan anemia, ribosome and erythropoiesis.
Da Costa L, Moniz H, Simansour M, Tchernia G, Mohandas N, Leblanc T. Da Costa L, et al. Transfus Clin Biol. 2010 Sep;17(3):112-9. doi: 10.1016/j.tracli.2010.06.001. Epub 2010 Jul 23. Transfus Clin Biol. 2010. PMID: 20655265 Free PMC article.
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome (five to seven cases per million live births) characterized by an aregenerative, usually macrocytic anemia with an absence or less than 5% of erythroid precursors (erythroblastope …
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome (five to seven cases per million live births) …
Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.
Lipton JM, Ellis SR. Lipton JM, et al. Curr Opin Pediatr. 2010 Feb;22(1):12-9. doi: 10.1097/MOP.0b013e328334573b. Curr Opin Pediatr. 2010. PMID: 19915471 Free PMC article. Review.
PURPOSE OF REVIEW: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by erythroid failure, congenital anomalies and predisposition to cancer. ...The description of DBA as a ribosomopathy has provided a context for scient …
PURPOSE OF REVIEW: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by erythroi …
A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.
Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA. Aly NH, et al. Blood Cells Mol Dis. 2023 Nov;103:102779. doi: 10.1016/j.bcmd.2023.102779. Epub 2023 Jul 16. Blood Cells Mol Dis. 2023. PMID: 37558589
BACKGROUND: Reaching a precise diagnosis in rare inherited anemia is extremely difficult and challenging, especially in areas with limited use of genetic studies, which makes undiagnosed anemia a unique clinical entity in tertiary hematology centers. ...In the normo …
BACKGROUND: Reaching a precise diagnosis in rare inherited anemia is extremely difficult and challenging, especially in areas with li …
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. van Dooijeweert B, et al. Eur J Haematol. 2018 Feb;100(2):163-170. doi: 10.1111/ejh.12995. Epub 2017 Dec 1. Eur J Haematol. 2018. PMID: 29114930
INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. ...An underlying genetic defect was identified in 26 of 43 patients (60.5%), the majority of which were fou …
INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a …
Current diagnosis of inherited bone marrow failure syndromes.
Tamary H, Alter BP. Tamary H, et al. Pediatr Hematol Oncol. 2007 Mar;24(2):87-99. doi: 10.1080/08880010601123240. Pediatr Hematol Oncol. 2007. PMID: 17454774 Review.
Recently, an improved diagnostic approach is possible by the cloning of many of the causative genes. Fanconi anemia (FA) patients belong to at least 12 complementation groups, of which 11 genes have been cloned. ...In Diamond-Blackfan anemia the …
Recently, an improved diagnostic approach is possible by the cloning of many of the causative genes. Fanconi anemia (FA) patients bel …
34 results