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Year Number of Results
1988 1
1992 1
1994 2
1995 1
1996 3
1997 1
1998 2
1999 5
2000 8
2001 4
2002 4
2003 1
2004 9
2005 1
2006 7
2007 8
2008 6
2009 2
2010 4
2011 5
2012 4
2013 5
2014 3
2015 2
2016 4
2017 3
2018 3
2019 2
2020 3
2024 1

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101 results

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Page 1
Radiogenomics.
Story MD, Durante M. Story MD, et al. Med Phys. 2018 Nov;45(11):e1111-e1122. doi: 10.1002/mp.13064. Med Phys. 2018. PMID: 30421807 Review.
PURPOSE: Radiogenomics is the study of genomic changes that underlie the radioresponse of normal and tumor tissues. And while this is generally regarded as a whole genome approach, one must keep in mind the impact of single gene biology on radioresponse, (ataxia telangiect …
PURPOSE: Radiogenomics is the study of genomic changes that underlie the radioresponse of normal and tumor tissues. And while this is …
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. Each disorder has its own pattern of chromosomal damage, with ce …
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...Microcephaly and
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly charac
Chromosomal breakage syndromes.
Carney JP. Carney JP. Curr Opin Immunol. 1999 Aug;11(4):443-7. doi: 10.1016/S0952-7915(99)80074-0. Curr Opin Immunol. 1999. PMID: 10448147 Review.
Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage syndrome. The genes mutated in these diseases, ATM and NBS1, have been cloned and there has been considerable recent progress on deciph …
Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage
Nijmegen breakage syndrome.
Kondratenko I, Paschenko O, Polyakov A, Bologov A. Kondratenko I, et al. Adv Exp Med Biol. 2007;601:61-7. doi: 10.1007/978-0-387-72005-0_6. Adv Exp Med Biol. 2007. PMID: 17712992 Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The g
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth re
Nijmegen breakage syndrome.
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. van der Burgt I, et al. J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. J Med Genet. 1996. PMID: 8929954 Free PMC article. Review.
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. W
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variant
A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
Rahman S, Canny MD, Buschmann TA, Latham MP. Rahman S, et al. Cells. 2020 Jul 13;9(7):1678. doi: 10.3390/cells9071678. Cells. 2020. PMID: 32668560 Free PMC article. Review.
Here, we discuss, in a structural and biochemical context, mutations in each of the three MRN components that have been associated with diseases such as ataxia telangiectasia-like disorder (ATLD), Nijmegen breakage syndrome (NBS), NBS-like disorder (NBSLD) an …
Here, we discuss, in a structural and biochemical context, mutations in each of the three MRN components that have been associated with dise …
Ataxia-telangiectasia, an evolving phenotype.
Chun HH, Gatti RA. Chun HH, et al. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1187-96. doi: 10.1016/j.dnarep.2004.04.010. DNA Repair (Amst). 2004. PMID: 15279807 Review.
Immunodeficiency with sinopulmonary infections, cancer susceptibility (usually lymphoid), and sensitivity to ionizing radiation are also characteristic. ...With the aid of molecular testing, A-T can now be distinguished from other autosomal recessive cerebellar ataxias (AR
Immunodeficiency with sinopulmonary infections, cancer susceptibility (usually lymphoid), and sensitivity to ionizing radiation are a
Chromosome instability syndromes.
Taylor AM. Taylor AM. Best Pract Res Clin Haematol. 2001 Sep;14(3):631-44. doi: 10.1053/beha.2001.0158. Best Pract Res Clin Haematol. 2001. PMID: 11640873 Review.
The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconi anaemia (FA) and Bloom syndrome (BS) have been known for many years. More recently Nijmegen breakage syndrome (NBS) and ataxia telangiectasia-like disorder (ATLD) have been iden …
The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconi anaemia (FA) and Bloom syndrome (BS) have been known for m …
The MRE11 complex: starting from the ends.
Stracker TH, Petrini JH. Stracker TH, et al. Nat Rev Mol Cell Biol. 2011 Feb;12(2):90-103. doi: 10.1038/nrm3047. Nat Rev Mol Cell Biol. 2011. PMID: 21252998 Free PMC article. Review.
The MRE11 complex, composed of the meiotic recombination 11 (MRE11), RAD50 and Nijmegen breakage syndrome 1 (NBS1; also known as nibrin) proteins is central to the DDR, and recent insights into its structure and function have been gained from in vitro structu …
The MRE11 complex, composed of the meiotic recombination 11 (MRE11), RAD50 and Nijmegen breakage syndrome 1 (NBS1; also …
101 results