"Nijmegen Breakage Syndrome" - Books

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See syndrome syndrome in the Gene database

Results: 16 books (93 items)

Select item 14589841.

GeneReviews® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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Select item 44036682.

StatPearls [Internet].

Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

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Select item 14152803.

Madame Curie Bioscience Database [Internet].

Austin (TX): Landes Bioscience; 2000-2013.

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Select item 28215244.

PDQ Cancer Information Summaries [Internet].

Bethesda (MD): National Cancer Institute (US); 2002-.

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Select item 16686905.

Holland-Frei Cancer Medicine. 6th edition.

Kufe DW, Pollock RE, Weichselbaum RR, et al., editors.

Hamilton (ON): BC Decker; 2003.

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Select item 29807926.

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

Borgaonkar DS.

Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Select item 24409467.

How Tobacco Smoke Causes Disease: The Biology and Behavioral Basis for Smoking-Attributable Disease: A Report of the Surgeon General.

Centers for Disease Control and Prevention (US); National Center for Chronic Disease Prevention and Health Promotion (US); Office on Smoking and Health (US).

Atlanta (GA): Centers for Disease Control and Prevention (US); 2010.

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Select item 43460048.

Ionizing Radiation, Part 1: X- and Gamma (γ)-Radiation, and Neutrons.

IARC Working Group on the Evaluation of Carcinogenic Risks to Humans.

Lyon (FR): International Agency for Research on Cancer; 2000. (IARC Monographs on the Evaluation of Carcinogenic Risks to Humans, No. 75.)

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Select item 51849589.

Childhood Cancer and Functional Impacts Across the Care Continuum.

National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Care Services; Committee on Childhood Cancers and Disability; Aiuppa L, Cartaxo T, Spicer CM, et al., editors.

Washington (DC): National Academies Press (US); 2020 Dec 9.

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Select item 537494210.

Selected Heritable Disorders of Connective Tissue and Disability.

National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Care Services; Committee on Selected Heritable Disorders of Connective Tissue and Disability; Wedge RA, Cartaxo T, Spicer CM, et al., editors.

Washington (DC): National Academies Press (US); 2022 Jul 8.

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Select item 316973011.

Biologic Markers in Reproductive Toxicology.

National Research Council (US) Subcommittee on Reproductive and Neurodevelopmental Toxicology.

Washington (DC): National Academies Press (US); 1989.

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Select item 408425412.

Pharmaceuticals.

IARC Working Group on the Evaluation of Carcinogenic Risks to Humans.

Lyon (FR): International Agency for Research on Cancer; 2012. (IARC Monographs on the Evaluation of Carcinogenic Risks to Humans, No. 100A.)

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Select item 452691813.

Newborn Blood Spot Screening for Galactosemia, Tyrosinemia Type I, Homocystinuria, Sickle Cell Anemia, Sickle Cell/Beta-Thalassemia, Sickle Cell/Hemoglobin C Disease and Severe Combined Immunodeficiency: Costs and Cost Analysis [Internet].

Institute of Health Economics.

Edmonton, Alberta, Canada: Institute of Health Economics (IHE); 2016 Mar.

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Select item 539423814.

Leveraging Advances in Modern Science to Revitalize Low-Dose Radiation Research in the United States.

National Academies of Sciences, Engineering, and Medicine; Division on Earth and Life Studies; Nuclear and Radiation Studies Board; Committee on Developing a Long-Term Strategy for Low-Dose Radiation Research in the United States.

Washington (DC): National Academies Press (US); 2022 Oct 20.

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Select item 540565815.

Immunogenetics: Methods and Protocols [Internet].

Langerak AW, editor.

New York: Humana; 2022.

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Select item 533626016.

Metastasis [Internet].

Sergi CM, editor.

Brisbane (AU): Exon Publications; 2022 May 3.

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Supplemental Content

Images search in Bookshelf

Fig. 4

Examples of analyses with the immune repertoire pipeline. Naïve B cells have a higher frequency of IGHV4–34 and IGHJ6 compared to antigen-selected switched B cells (IGHG, and IGHA) (a). The CDR3 length is shorter in antigen-selected switched B cells (IGHG and IGHA) compared to naïve B cells (b). Patients with ataxia telangiectasia (AT) or Nijmegen breakage syndrome have a reduced diversity of the naïve BCR repertoire (c). The number of samples analyzed is indicated per group. P-values <0.001 are indicated by *** and P-values <0.0001 are indicated by ****

NGS-Based B-Cell Receptor Repertoire AnalysisRepertoire analyses in the Context of Inborn Errors of Immunity.

Langerak AW, editor. Immunogenetics: Methods and Protocols [Internet]. New York: Humana; 2022.
Figure 3

Telomere-mediated chromosome integrity in mammalian cells lacking telomerase or DNA repair factors. a) A typical end-to-end fusion detected in primary fibroblasts from Nijmegen Breakage Syndrome patients. Partial metaphase spread showing telomere signals on chromosomes after FISH with Cy3-labelled (CCCTAAA)₃ PNA probe and the arrow points to a fusion event. b) The same image as in (a) under DAPI filter. c) A dicentric (Dic) chromosome (pointed arrow) in a human metaphase spread showing telomere signals (red) at the termini and and two centromeres (green) along the chromosome arms (d) Image shown in (c) under DAPI. e) A typical Robertsonian fusion like configuration event due to the loss of telomeres at the p-arm of a mouse chromosome and fusion between the centromeres. No telomeres could be detected at the fusion point. f ) An example of a Robertsonian fusion-like configuration (pointed arrow) with telomeres at the fusion point (RLCT) which could have been generated by the telomere dysfunction and the subsequent loss of capping function in these cells. These RLCs are generated either by complete loss of telomeres on p-arm of the chromosomes (telomere erosion) or fusion of different chromosome with telomeres at fusion point (capping function). e,f ) Reproduced from Hande59 with permission; ©2004 S. Karger AG, Basel. A color version of this figure is available online at www.Eurekah.com.

Orchestration of Telomeres and DNA Repair Factors in Mammalian Cells: Implications for Cancer and Ageing.

Madame Curie Bioscience Database [Internet]. Austin (TX): Landes Bioscience; 2000-2013.