Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1974 1
1975 2
1976 3
1977 2
1978 5
1979 1
1980 7
1981 3
1982 3
1983 8
1984 3
1985 1
1986 4
1987 4
1988 2
1989 8
1990 5
1991 5
1992 13
1993 8
1994 7
1995 11
1996 16
1997 14
1998 19
1999 11
2000 19
2001 21
2002 15
2003 37
2004 24
2005 34
2006 36
2007 33
2008 31
2009 49
2010 41
2011 42
2012 45
2013 48
2014 41
2015 35
2016 46
2017 65
2018 53
2019 36
2020 34
2021 57
2022 37
2023 31
2024 12

Text availability

Article attribute

Article type

Publication date

Search Results

991 results

Results by year

Filters applied: . Clear all
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. Erythroblastopenia is the major characteristic of the disease, which is a model for ribosomal diseases, related t …
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow fa
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC. Yoshimi A, et al. Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. Orphanet J Rare Dis. 2022. PMID: 36253820 Free PMC article. Review.
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring- …
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most …
Dyskeratosis congenita and telomere biology disorders.
Savage SA. Savage SA. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. Hematology Am Soc Hematol Educ Program. 2022. PMID: 36485133 Free PMC article. Review.
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biology disorders (TBDs) beyond the classic dyskeratosis congenita (DC) triad of nail dysplasia, abnormal skin pigmentation, and oral leukoplakia …
Numerous genetic discoveries and the advent of clinical telomere length testing have led to the recognition of a spectrum of telomere biolog …
Congenital neutropenia and primary immunodeficiency diseases.
Spoor J, Farajifard H, Rezaei N. Spoor J, et al. Crit Rev Oncol Hematol. 2019 Jan;133:149-162. doi: 10.1016/j.critrevonc.2018.10.003. Epub 2018 Oct 13. Crit Rev Oncol Hematol. 2019. PMID: 30661651 Review.
In the past decades, a number of genes has been discovered that are responsible for congenital neutropenia. By perturbation of mitochondrial energy metabolism, vesicle trafficking or synthesis of functional proteins, these mutations cause a maturation arrest in myeloid pre …
In the past decades, a number of genes has been discovered that are responsible for congenital neutropenia. By perturbation of mitoch …
Dyskeratosis congenita: a literature review.
AlSabbagh MM. AlSabbagh MM. J Dtsch Dermatol Ges. 2020 Sep;18(9):943-967. doi: 10.1111/ddg.14268. Epub 2020 Sep 15. J Dtsch Dermatol Ges. 2020. PMID: 32930426 Review.
It increases the risk of malignancy and other potentially lethal complications such as bone marrow failure, lung and liver diseases. Mutations in 19 genes are associated with dyskeratosis congenita, and a fifth of the pathogenic mutations are found in DKC1, t …
It increases the risk of malignancy and other potentially lethal complications such as bone marrow failure, lung and li …
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Skokowa J, et al. Nat Rev Dis Primers. 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. Nat Rev Dis Primers. 2017. PMID: 28593997 Free PMC article. Review.
The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe congenital neutropenias may predispose to myelodysplastic syndromes or acute myeloid leukaemia. ...Haematopoietic stem cell t …
The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe …
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.
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well as a predisposition to malignancies including leukemia and squamous cell carcinoma (SCC). ...
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well as a predisposition to malig …
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.
While several nontransplant treatments are currently under evaluation, hematopoietic stem cell transplantation (HSCT) remains the only therapeutic option for bone marrow failure (BMF). Although HSCT outcomes in patients with FA have remarkably improved over t …
While several nontransplant treatments are currently under evaluation, hematopoietic stem cell transplantation (HSCT) remains the only thera …
Inherited Bone Marrow Failure Syndromes: Biology and Diagnostic Clues.
Elghetany MT, Punia JN, Marcogliese AN. Elghetany MT, et al. Clin Lab Med. 2021 Sep;41(3):417-431. doi: 10.1016/j.cll.2021.04.014. Epub 2021 Jul 1. Clin Lab Med. 2021. PMID: 34304773 Review.
Inherited bone marrow failure syndromes are a group of genetic disorders associated with bone marrow production defects resulting in single or multiple cytopenias. ...This review highlights the most common genetic disorders associa
Inherited bone marrow failure syndromes are a group of genetic disorders associated with bone m
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 a …
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital abnormalities, bone marrow
991 results