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Pure red cell aplasia.
Means RT Jr. Means RT Jr. Blood. 2016 Nov 24;128(21):2504-2509. doi: 10.1182/blood-2016-05-717140. Blood. 2016. PMID: 27881371 Free article. Review.
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acq …
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduc …
Defects in Bone and Bone Marrow in Inherited Anemias: the Chicken or the Egg.
Willimann R, Chougar C, Wolfe LC, Blanc L, Lipton JM. Willimann R, et al. Curr Osteoporos Rep. 2023 Oct;21(5):527-539. doi: 10.1007/s11914-023-00809-3. Epub 2023 Jul 12. Curr Osteoporos Rep. 2023. PMID: 37436584 Review.
PURPOSE OF REVIEW: Recently, there has been an increasing number of studies on the crosstalk between the bone and the bone marrow and how it pertains to anemia. Here, we discuss four heritable clinical syndromes contrasting those in which anemia affects bone growth …
PURPOSE OF REVIEW: Recently, there has been an increasing number of studies on the crosstalk between the bone and the bone marrow and how it …
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Semin Fetal Neonatal Med. 2016. PMID: 26724991 Free PMC article. Review.
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemi
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematologica …
Inherited bone marrow failure syndromes: considerations pre- and posttransplant.
Alter BP. Alter BP. Blood. 2017 Nov 23;130(21):2257-2264. doi: 10.1182/blood-2017-05-781799. Blood. 2017. PMID: 29167174 Free PMC article. Review.
They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis c …
They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-gen …
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Bezzerri V, et al. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. Int J Mol Sci. 2020. PMID: 32630050 Free PMC article. Review.
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanco …
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosom …
The Role of α1-Microglobulin (A1M) in Erythropoiesis and Erythrocyte Homeostasis-Therapeutic Opportunities in Hemolytic Conditions.
Kristiansson A, Gram M, Flygare J, Hansson SR, Åkerström B, Storry JR. Kristiansson A, et al. Int J Mol Sci. 2020 Sep 30;21(19):7234. doi: 10.3390/ijms21197234. Int J Mol Sci. 2020. PMID: 33008134 Free PMC article. Review.
In addition, in a recently published study, it was observed that mice lacking A1M (A1M-KO) developed a macrocytic anemia phenotype. Altogether, this suggests that A1M may have a role in RBC development, stability and turnover. ...Here, we provide an overview of A1M and its …
In addition, in a recently published study, it was observed that mice lacking A1M (A1M-KO) developed a macrocytic anemia phenotype. A …
A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.
Dorenkamp M, Porret N, Diepold M, Rovó A. Dorenkamp M, et al. Medicina (Kaunas). 2023 Nov 5;59(11):1953. doi: 10.3390/medicina59111953. Medicina (Kaunas). 2023. PMID: 38004002 Free PMC article. Review.
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. ...We present the case of a young woman who, at the age of 21, developed severe symptomatic anemia. Although, due to malformations, a conge
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. ...We present
Bone marrow transplant in Diamond-Blackfan anemia.
Alter BP. Alter BP. Bone Marrow Transplant. 1998 May;21(9):965-6. doi: 10.1038/sj.bmt.1701243. Bone Marrow Transplant. 1998. PMID: 9613795 Review. No abstract available.