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

Year Number of Results
1947 1
1948 1
1954 1
1957 1
1959 1
1960 1
1963 1
1964 1
1965 3
1966 9
1967 4
1968 2
1969 4
1970 4
1971 3
1972 7
1973 7
1974 10
1975 16
1976 10
1977 27
1978 25
1979 26
1980 25
1981 37
1982 30
1983 45
1984 34
1985 31
1986 40
1987 48
1988 31
1989 40
1990 35
1991 32
1992 34
1993 32
1994 34
1995 39
1996 32
1997 27
1998 42
1999 43
2000 64
2001 62
2002 46
2003 46
2004 59
2005 52
2006 60
2007 68
2008 60
2009 63
2010 79
2011 63
2012 53
2013 68
2014 68
2015 77
2016 87
2017 70
2018 59
2019 49
2020 80
2021 100
2022 92
2023 81
2024 34

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400 results

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Page 1
Bloom syndrome and the underlying causes of genetic instability.
Ababou M. Ababou M. Mol Genet Metab. 2021 May;133(1):35-48. doi: 10.1016/j.ymgme.2021.03.003. Epub 2021 Mar 10. Mol Genet Metab. 2021. PMID: 33736941 Review.
Autosomal hereditary recessive diseases characterized by genetic instability are often associated with cancer predisposition. Bloom syndrome (BS), a rare genetic disorder, with <300 cases reported worldwide, combines both. Indeed, patients with Bloom's …
Autosomal hereditary recessive diseases characterized by genetic instability are often associated with cancer predisposition. Bloom …
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.
Cunniff C, Bassetti JA, Ellis NA. Cunniff C, et al. Mol Syndromol. 2017 Jan;8(1):4-23. doi: 10.1159/000452082. Epub 2016 Nov 5. Mol Syndromol. 2017. PMID: 28232778 Free PMC article. Review.
Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM protein causes chromosome instability, excessive homologous recombination, and a greatly increased number of sister chromatid exchanges that a …
Loss-of-function mutations of BLM, which codes for a RecQ helicase, cause Bloom's syndrome. The absence of a functional BLM pr …
A Structural Guide to the Bloom Syndrome Complex.
Bythell-Douglas R, Deans AJ. Bythell-Douglas R, et al. Structure. 2021 Feb 4;29(2):99-113. doi: 10.1016/j.str.2020.11.020. Epub 2020 Dec 22. Structure. 2021. PMID: 33357470 Free article. Review.
The Bloom syndrome complex is a DNA damage repair machine. It consists of several protein components which are functional in isolation, but interdependent in cells for the maintenance of accurate homologous recombination. ...
The Bloom syndrome complex is a DNA damage repair machine. It consists of several protein components which are functional in i …
Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.
de Renty C, Ellis NA. de Renty C, et al. Ageing Res Rev. 2017 Jan;33:36-51. doi: 10.1016/j.arr.2016.05.010. Epub 2016 May 26. Ageing Res Rev. 2017. PMID: 27238185 Free PMC article. Review.
In humans, mutations in three RecQ genes - BLM, WRN, and RECQL4 - give rise to Bloom's syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS), respectively. ...
In humans, mutations in three RecQ genes - BLM, WRN, and RECQL4 - give rise to Bloom's syndrome (BS), Werner syndrome ( …
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein.
Hatkevich T, Sekelsky J. Hatkevich T, et al. Bioessays. 2017 Sep;39(9):10.1002/bies.201700073. doi: 10.1002/bies.201700073. Epub 2017 Aug 9. Bioessays. 2017. PMID: 28792069 Free PMC article. Review.
The functions of the Bloom syndrome helicase (BLM) and its orthologs are well characterized in mitotic DNA damage repair, but their roles within the context of meiotic recombination are less clear. ...
The functions of the Bloom syndrome helicase (BLM) and its orthologs are well characterized in mitotic DNA damage repair, but …
Bile acids and the metabolic syndrome.
McGlone ER, Bloom SR. McGlone ER, et al. Ann Clin Biochem. 2019 May;56(3):326-337. doi: 10.1177/0004563218817798. Epub 2019 Mar 4. Ann Clin Biochem. 2019. PMID: 30453753 Free article. Review.
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.
Campbell MB, Campbell WC, Rogers J, Rogers N, Rogers Z, van den Hurk AM, Webb A, Webb T, Zaslaw P. Campbell MB, et al. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002816. doi: 10.1101/mcs.a002816. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29610394 Free PMC article. Review.
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age. ...We also outline a p …
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated wit …
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A. Schierbeck J, et al. Acta Derm Venereol. 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. Acta Derm Venereol. 2019. PMID: 30653245 Free article. Review.
The most common syndromes associated with basal cell carcinoma are: Gorlin-Goltz syndrome, Rombo syndrome, and Bazex-Dupre-Christol syndrome. Multiple squamous cell carcinomas can be related to: xeroderma pigmentosum, Ferguson-Smith, Muir-Torre syndrome …
The most common syndromes associated with basal cell carcinoma are: Gorlin-Goltz syndrome, Rombo syndrome, and Bazex-Dupre-Chr …
Molecular Biology of Osteosarcoma.
Czarnecka AM, Synoradzki K, Firlej W, Bartnik E, Sobczuk P, Fiedorowicz M, Grieb P, Rutkowski P. Czarnecka AM, et al. Cancers (Basel). 2020 Jul 31;12(8):2130. doi: 10.3390/cancers12082130. Cancers (Basel). 2020. PMID: 32751922 Free PMC article. Review.
Many inherited germline mutations are responsible for syndromes that predispose to osteosarcomas including Li Fraumeni syndrome, retinoblastoma syndrome, Werner syndrome, Bloom syndrome or Diamond-Blackfan anemia. ...
Many inherited germline mutations are responsible for syndromes that predispose to osteosarcomas including Li Fraumeni syndrome, reti …
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
400 results

Searches related to "bloom syndrome"