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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1975 2
1976 5
1977 2
1978 5
1979 1
1980 7
1981 3
1982 4
1983 8
1984 3
1985 1
1986 4
1987 6
1988 2
1989 8
1990 7
1991 5
1992 12
1993 9
1994 6
1995 12
1996 16
1997 13
1998 18
1999 11
2000 14
2001 18
2002 10
2003 27
2004 20
2005 25
2006 28
2007 21
2008 21
2009 32
2010 34
2011 27
2012 29
2013 25
2014 26
2015 19
2016 29
2017 46
2018 30
2019 22
2020 21
2021 23
2022 24
2023 12

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700 results

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Page 1
Diamond-Blackfan anemia.
Da Costa L, Leblanc T, Mohandas N. Da Costa L, et al. Blood. 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. Blood. 2020. PMID: 32702755 Free PMC article. Review.
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failure syndrome. ...
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failu
Fanconi Anemia Signaling and Cancer.
Nepal M, Che R, Zhang J, Ma C, Fei P. Nepal M, et al. Trends Cancer. 2017 Dec;3(12):840-856. doi: 10.1016/j.trecan.2017.10.005. Epub 2017 Nov 10. Trends Cancer. 2017. PMID: 29198440 Free PMC article. Review.
The extremely high cancer incidence associated with patients suffering from a rare human genetic disease, Fanconi anemia (FA), demonstrates the importance of FA genes. Over the course of human tumor development, FA genes perform critical tumor-suppression roles. ...
The extremely high cancer incidence associated with patients suffering from a rare human genetic disease, Fanconi anemia (FA), demons …
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 PR …
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduc …
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair.
Peake JD, Noguchi E. Peake JD, et al. Hum Genet. 2022 Dec;141(12):1811-1836. doi: 10.1007/s00439-022-02462-9. Epub 2022 May 21. Hum Genet. 2022. PMID: 35596788 Review.
Finally, we will review the detailed mechanisms of ICL repair via the Fanconi anemia DNA repair pathway, highlighting critical regulatory processes. Together, the information in this review will underscore important contributions to Fanconi anemia research in the pa …
Finally, we will review the detailed mechanisms of ICL repair via the Fanconi anemia DNA repair pathway, highlighting critical regula …
Genotype-phenotype associations in Fanconi anemia: A literature review.
Fiesco-Roa MO, Giri N, McReynolds LJ, Best AF, Alter BP. Fiesco-Roa MO, et al. Blood Rev. 2019 Sep;37:100589. doi: 10.1016/j.blre.2019.100589. Epub 2019 Jul 16. Blood Rev. 2019. PMID: 31351673 Free PMC article. Review.
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital abnormalities include all those seen in VACTERL-H association and those described un …
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital abnormalities, bone marrow failure, an …
Modern management of Fanconi anemia.
Dufour C, Pierri F. Dufour C, et al. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):649-657. doi: 10.1182/hematology.2022000393. Hematology Am Soc Hematol Educ Program. 2022. PMID: 36485157 Free PMC article. Review.
In this review, we present a clinical case report and discussion to outline the importance of long-term specific Fanconi anemia (FA) monitoring, and we discuss the main aspects of the general management of patients with FA and clinical complications. ...
In this review, we present a clinical case report and discussion to outline the importance of long-term specific Fanconi anemia (FA) …
Chromosome instability syndromes.
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS. Taylor AMR, et al. Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. Nat Rev Dis Primers. 2019. PMID: 31537806 Free PMC article. Review.
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders. ...
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, …
[Fanconi anemia].
Yamashita T. Yamashita T. Rinsho Ketsueki. 2019;60(5):403-407. doi: 10.11406/rinketsu.60.403. Rinsho Ketsueki. 2019. PMID: 31168005 Review. Japanese.
Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure, increased susceptibility to leukemia and cancer, and genomic instabilities. ...
Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure, increased susceptibility to leukemia and …
Ribosomopathies: New Therapeutic Perspectives.
Orgebin E, Lamoureux F, Isidor B, Charrier C, Ory B, Lézot F, Baud'huin M. Orgebin E, et al. Cells. 2020 Sep 11;9(9):2080. doi: 10.3390/cells9092080. Cells. 2020. PMID: 32932838 Free PMC article. Review.
The present manuscript will review our knowledge of ribosomopathies, discuss current treatments, and introduce the new therapeutic perspectives based on recent research. Diamond-Blackfan anemia, currently treated with blood transfusion prior to steroids, coul …
The present manuscript will review our knowledge of ribosomopathies, discuss current treatments, and introduce the new therapeutic perspecti …
Genotoxic aldehydes in the hematopoietic system.
Wang M, Dingler FA, Patel KJ. Wang M, et al. Blood. 2022 Apr 7;139(14):2119-2129. doi: 10.1182/blood.2019004316. Blood. 2022. PMID: 35148375 Free article. Review.
To protect against aldehydes, mammals have evolved a family of enzymes to detoxify aldehydes, and the Fanconi anemia DNA repair pathway to process aldehyde-induced DNA damage. ...
To protect against aldehydes, mammals have evolved a family of enzymes to detoxify aldehydes, and the Fanconi anemia DNA repair pathw …
700 results