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Showing 13 to 24 of 32 entries
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Oncology.

Postgraduate medical journal

Malpas JS.
PMID: 8506210
Postgrad Med J. 1993 Feb;69(808):85-94. doi: 10.1136/pgmj.69.808.85.
Free PMC Article

No abstract available.

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Malpas JS. Oncology. Postgrad Med J. 1993;69(808):85-94doi: 10.1136/pgmj.69.808.85.
Malpas, J. S. (1993). Oncology. Postgraduate medical journal, 69(808), 85-94. https://doi.org/10.1136/pgmj.69.808.85
Malpas, J S. "Oncology." Postgraduate medical journal vol. 69,808 (1993): 85-94. doi: https://doi.org/10.1136/pgmj.69.808.85
Malpas JS. Oncology. Postgrad Med J. 1993 Feb;69(808):85-94. doi: 10.1136/pgmj.69.808.85. PMID: 8506210; PMCID: PMC2399631.
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Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database.

Experimental biology and medicine (Maywood, N.J.)

Owsley J, Stein MK, Porter J, In GK, Salem M, O'Day S, Elliott A, Poorman K, Gibney G, VanderWalde A.
PMID: 33019809
Exp Biol Med (Maywood). 2021 Jan;246(1):31-39. doi: 10.1177/1535370220959657. Epub 2020 Oct 05.

IMPACT STATEMENT: These data represent the largest aggregation of BRAF mutations within a single clinical database to our knowledge. The relative proportions of both BRAF V600 mutations and non-V600 mutations are informative in all cancers and by malignancy, and...

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Owsley J, Stein MK, Porter J, et al. Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database. Exp Biol Med (Maywood). 2020;246(1):31-39doi: 10.1177/1535370220959657.
Owsley, J., Stein, M. K., Porter, J., In, G. K., Salem, M., O'Day, S., Elliott, A., Poorman, K., Gibney, G., & VanderWalde, A. (2021). Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database. Experimental biology and medicine (Maywood, N.J.), 246(1), 31-39. https://doi.org/10.1177/1535370220959657
Owsley, Jeff, et al. "Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database." Experimental biology and medicine (Maywood, N.J.) vol. 246,1 (2021): 31-39. doi: https://doi.org/10.1177/1535370220959657
Owsley J, Stein MK, Porter J, In GK, Salem M, O'Day S, Elliott A, Poorman K, Gibney G, VanderWalde A. Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database. Exp Biol Med (Maywood). 2021 Jan;246(1):31-39. doi: 10.1177/1535370220959657. Epub 2020 Oct 05. PMID: 33019809; PMCID: PMC7797994.
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Identification of Somatic Mutations in Dementia-related Genes in Cancer Patients.

Current Alzheimer research

Kim YC, Jeong BH.
PMID: 33272183
Curr Alzheimer Res. 2020;17(9):835-844. doi: 10.2174/1567205017666201203124341.

BACKGROUND: Dementia is an overall term of brain diseases, including Alzheimer's disease (AD), tauopathies and synucleinopathies. To date, somatic mutations in dementia-related genes, including the amyloid precursor protein (APP) gene, presenilin 1 (PSEN1) gene, PSEN2 gene, microtubule- associated protein...

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Kim YC, Jeong BH. Identification of Somatic Mutations in Dementia-related Genes in Cancer Patients. Curr Alzheimer Res. 2020;17(9):835-844doi: 10.2174/1567205017666201203124341.
Kim, Y. C., & Jeong, B. H. (2020). Identification of Somatic Mutations in Dementia-related Genes in Cancer Patients. Current Alzheimer research, 17(9), 835-844. https://doi.org/10.2174/1567205017666201203124341
Kim, Yong-Chan, and Jeong, Byung-Hoon. "Identification of Somatic Mutations in Dementia-related Genes in Cancer Patients." Current Alzheimer research vol. 17,9 (2020): 835-844. doi: https://doi.org/10.2174/1567205017666201203124341
Kim YC, Jeong BH. Identification of Somatic Mutations in Dementia-related Genes in Cancer Patients. Curr Alzheimer Res. 2020;17(9):835-844. doi: 10.2174/1567205017666201203124341. PMID: 33272183.
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[Lung Adenocarcinomas with Pulmonary Miliary Metastases: A Case Report and Literature Review].

Zhongguo fei ai za zhi = Chinese journal of lung cancer

Li L, Zhou L, Zhang J.
PMID: 31874677
Zhongguo Fei Ai Za Zhi. 2019 Dec 20;22(12):798-804. doi: 10.3779/j.issn.1009-3419.2019.12.11.

BACKGROUND: Lung adenocarcinoma with miliary metastasis in both lungs is easily misdiagnosed. The aim of this study is to investigate the clinical features of lung adenocarcinoma with miliary metastases in both lungs and to improve the clinician's understanding of...

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Li L, Zhou L, Zhang J. [Lung Adenocarcinomas with Pulmonary Miliary Metastases: A Case Report and Literature Review]. Zhongguo Fei Ai Za Zhi. 2019;22(12):798-804doi: 10.3779/j.issn.1009-3419.2019.12.11.
Li, L., Zhou, L., & Zhang, J. (2019). [Lung Adenocarcinomas with Pulmonary Miliary Metastases: A Case Report and Literature Review]. Zhongguo fei ai za zhi = Chinese journal of lung cancer, 22(12), 798-804. https://doi.org/10.3779/j.issn.1009-3419.2019.12.11
Li, Linxue, et al. "[Lung Adenocarcinomas with Pulmonary Miliary Metastases: A Case Report and Literature Review]." Zhongguo fei ai za zhi = Chinese journal of lung cancer vol. 22,12 (2019): 798-804. doi: https://doi.org/10.3779/j.issn.1009-3419.2019.12.11
Li L, Zhou L, Zhang J. [Lung Adenocarcinomas with Pulmonary Miliary Metastases: A Case Report and Literature Review]. Zhongguo Fei Ai Za Zhi. 2019 Dec 20;22(12):798-804. doi: 10.3779/j.issn.1009-3419.2019.12.11. Chinese. PMID: 31874677; PMCID: PMC6935038.
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Therapeutic approaches for genetic and infectious diseases.

International reviews of immunology

Kumar H.
PMID: 31894736
Int Rev Immunol. 2020;39(1):1-2. doi: 10.1080/08830185.2019.1707479.

No abstract available.

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Kumar H. Therapeutic approaches for genetic and infectious diseases. Int Rev Immunol. 2020;39(1):1-2doi: 10.1080/08830185.2019.1707479.
Kumar, H. (2020). Therapeutic approaches for genetic and infectious diseases. International reviews of immunology, 39(1), 1-2. https://doi.org/10.1080/08830185.2019.1707479
Kumar, Himanshu. "Therapeutic approaches for genetic and infectious diseases." International reviews of immunology vol. 39,1 (2020): 1-2. doi: https://doi.org/10.1080/08830185.2019.1707479
Kumar H. Therapeutic approaches for genetic and infectious diseases. Int Rev Immunol. 2020;39(1):1-2. doi: 10.1080/08830185.2019.1707479. PMID: 31894736.
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.

Nature neuroscience

Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM.
PMID: 27694993
Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 03.

Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly...

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Ganna A, Genovese G, Howrigan DP, et al. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat Neurosci. 2016;19(12):1563-1565doi: 10.1038/nn.4404.
Ganna, A., Genovese, G., Howrigan, D. P., Byrnes, A., Kurki, M., Zekavat, S. M., Whelan, C. W., Kals, M., Nivard, M. G., Bloemendal, A., Bloom, J. M., Goldstein, J. I., Poterba, T., Seed, C., Handsaker, R. E., Natarajan, P., Mägi, R., Gage, D., Robinson, E. B., Metspalu, A., Salomaa, V., Suvisaari, J., Purcell, S. M., Sklar, P., Kathiresan, S., Daly, M. J., McCarroll, S. A., Sullivan, P. F., Palotie, A., Esko, T., Hultman, C., & Neale, B. M. (2016). Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nature neuroscience, 19(12), 1563-1565. https://doi.org/10.1038/nn.4404
Ganna, Andrea, et al. "Ultra-rare disruptive and damaging mutations influence educational attainment in the general population." Nature neuroscience vol. 19,12 (2016): 1563-1565. doi: https://doi.org/10.1038/nn.4404
Ganna A, Genovese G, Howrigan DP, Byrnes A, Kurki M, Zekavat SM, Whelan CW, Kals M, Nivard MG, Bloemendal A, Bloom JM, Goldstein JI, Poterba T, Seed C, Handsaker RE, Natarajan P, Mägi R, Gage D, Robinson EB, Metspalu A, Salomaa V, Suvisaari J, Purcell SM, Sklar P, Kathiresan S, Daly MJ, McCarroll SA, Sullivan PF, Palotie A, Esko T, Hultman C, Neale BM. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Nat Neurosci. 2016 Dec;19(12):1563-1565. doi: 10.1038/nn.4404. Epub 2016 Oct 03. PMID: 27694993; PMCID: PMC5127781.
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Assessing Escherichia coli metabolism models and simulation approaches in phenotype predictions: Validation against experimental data.

Biotechnology progress

Costa RS, Vinga S.
PMID: 30294889
Biotechnol Prog. 2018 Nov;34(6):1344-1354. doi: 10.1002/btpr.2700. Epub 2018 Oct 09.

Over the last years, several genome-scale metabolic models (GEMs) and kinetic models of Escherichia coli were published. Their predictive performance varies according to the evaluation metric considered, the computational simulation methods used, and the type/quality of experimental data available....

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Costa RS, Vinga S. Assessing Escherichia coli metabolism models and simulation approaches in phenotype predictions: Validation against experimental data. Biotechnol Prog. 2018;34(6):1344-1354doi: 10.1002/btpr.2700.
Costa, R. S., & Vinga, S. (2018). Assessing Escherichia coli metabolism models and simulation approaches in phenotype predictions: Validation against experimental data. Biotechnology progress, 34(6), 1344-1354. https://doi.org/10.1002/btpr.2700
Costa, Rafael S, and Vinga, Susana. "Assessing Escherichia coli metabolism models and simulation approaches in phenotype predictions: Validation against experimental data." Biotechnology progress vol. 34,6 (2018): 1344-1354. doi: https://doi.org/10.1002/btpr.2700
Costa RS, Vinga S. Assessing Escherichia coli metabolism models and simulation approaches in phenotype predictions: Validation against experimental data. Biotechnol Prog. 2018 Nov;34(6):1344-1354. doi: 10.1002/btpr.2700. Epub 2018 Oct 09. PMID: 30294889.
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'It has to become true genetics': tumour genetics and the division of diagnostic labour in the clinic.

Sociology of health & illness

Beaudevin C, Peerbaye A, Bourgain C.
PMID: 30671989
Sociol Health Illn. 2019 May;41(4):643-657. doi: 10.1111/1467-9566.12844. Epub 2019 Jan 22.

Tumour genetics is currently turning into a massive clinical approach. This paper is an enquiry into its practices as they expand beyond expert and experimental contexts and become routinised in clinical hospital settings. Studying a French university hospital, we...

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Beaudevin C, Peerbaye A, Bourgain C. 'It has to become true genetics': tumour genetics and the division of diagnostic labour in the clinic. Sociol Health Illn. 2019;41(4):643-657doi: 10.1111/1467-9566.12844.
Beaudevin, C., Peerbaye, A., & Bourgain, C. (2019). 'It has to become true genetics': tumour genetics and the division of diagnostic labour in the clinic. Sociology of health & illness, 41(4), 643-657. https://doi.org/10.1111/1467-9566.12844
Beaudevin, Claire, et al. "'It has to become true genetics': tumour genetics and the division of diagnostic labour in the clinic." Sociology of health & illness vol. 41,4 (2019): 643-657. doi: https://doi.org/10.1111/1467-9566.12844
Beaudevin C, Peerbaye A, Bourgain C. 'It has to become true genetics': tumour genetics and the division of diagnostic labour in the clinic. Sociol Health Illn. 2019 May;41(4):643-657. doi: 10.1111/1467-9566.12844. Epub 2019 Jan 22. PMID: 30671989.
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Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern.

Journal of electrocardiology

Qiu X, Liu W, Hu D, Sun Y, Li L, Li C.
PMID: 18976777
J Electrocardiol. 2009 May-Jun;42(3):250-3. doi: 10.1016/j.jelectrocard.2008.08.042. Epub 2008 Oct 30.

We describe a 45-year-old Asian man with Brugada-type 2 electrocardiogram and probable nocturnal agonal respiration. After genetic screening, drug challenge test and polysomnography examination, we ruled out Brugada syndrome and identified obstructive sleep apnea-hypopnea syndrome. Therefore, obstructive sleep apnea-hypopnea...

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Qiu X, Liu W, Hu D, et al. Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern. J Electrocardiol. 2008;42(3):250-3doi: 10.1016/j.jelectrocard.2008.08.042.
Qiu, X., Liu, W., Hu, D., Sun, Y., Li, L., & Li, C. (2009). Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern. Journal of electrocardiology, 42(3), 250-3. https://doi.org/10.1016/j.jelectrocard.2008.08.042
Qiu, Xiaoliang, et al. "Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern." Journal of electrocardiology vol. 42,3 (2009): 250-3. doi: https://doi.org/10.1016/j.jelectrocard.2008.08.042
Qiu X, Liu W, Hu D, Sun Y, Li L, Li C. Patient with obstructive sleep apnea-hypopnea syndrome and SCN5A mutation (R1193Q polymorphism) associated with Brugada type 2 electrocardiographic pattern. J Electrocardiol. 2009 May-Jun;42(3):250-3. doi: 10.1016/j.jelectrocard.2008.08.042. Epub 2008 Oct 30. PMID: 18976777.
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One hundred years of somatic mutation theory of carcinogenesis: is it time to switch?.

BioEssays : news and reviews in molecular, cellular and developmental biology

Soto AM, Sonnenschein C.
PMID: 24323923
Bioessays. 2014 Jan;36(1):118-20. doi: 10.1002/bies.201300160.

No abstract available.

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Soto AM, Sonnenschein C. One hundred years of somatic mutation theory of carcinogenesis: is it time to switch?. Bioessays. 2014;36(1):118-20doi: 10.1002/bies.201300160.
Soto, A. M., & Sonnenschein, C. (2014). One hundred years of somatic mutation theory of carcinogenesis: is it time to switch?. BioEssays : news and reviews in molecular, cellular and developmental biology, 36(1), 118-20. https://doi.org/10.1002/bies.201300160
Soto, Ana M, and Sonnenschein, Carlos. "One hundred years of somatic mutation theory of carcinogenesis: is it time to switch?." BioEssays : news and reviews in molecular, cellular and developmental biology vol. 36,1 (2014): 118-20. doi: https://doi.org/10.1002/bies.201300160
Soto AM, Sonnenschein C. One hundred years of somatic mutation theory of carcinogenesis: is it time to switch?. Bioessays. 2014 Jan;36(1):118-20. doi: 10.1002/bies.201300160. PMID: 24323923; PMCID: PMC4018816.
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NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis.

Rheumatology (Oxford, England)

Yao Q, Myles J, Shen B, McDonald C.
PMID: 24255163
Rheumatology (Oxford). 2014 May;53(5):958-60. doi: 10.1093/rheumatology/ket384. Epub 2013 Nov 19.

No abstract available.

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Yao Q, Myles J, Shen B, et al. NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis. Rheumatology (Oxford). 2013;53(5):958-60doi: 10.1093/rheumatology/ket384.
Yao, Q., Myles, J., Shen, B., & McDonald, C. (2014). NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis. Rheumatology (Oxford, England), 53(5), 958-60. https://doi.org/10.1093/rheumatology/ket384
Yao, Qingping, et al. "NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis." Rheumatology (Oxford, England) vol. 53,5 (2014): 958-60. doi: https://doi.org/10.1093/rheumatology/ket384
Yao Q, Myles J, Shen B, McDonald C. NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis. Rheumatology (Oxford). 2014 May;53(5):958-60. doi: 10.1093/rheumatology/ket384. Epub 2013 Nov 19. PMID: 24255163.
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Mutation-specific database and bioinformatics resource for DMD.

Human mutation

Flanigan KM.
PMID: 19479959
Hum Mutat. 2009 Jun;30(6):v. doi: 10.1002/humu.21051.

No abstract available.

Cite
Flanigan KM. Mutation-specific database and bioinformatics resource for DMD. Hum Mutat. 2009;30(6):vdoi: 10.1002/humu.21051.
Flanigan, K. M. (2009). Mutation-specific database and bioinformatics resource for DMD. Human mutation, 30(6), v. https://doi.org/10.1002/humu.21051
Flanigan, Kevin M. "Mutation-specific database and bioinformatics resource for DMD." Human mutation vol. 30,6 (2009): v. doi: https://doi.org/10.1002/humu.21051
Flanigan KM. Mutation-specific database and bioinformatics resource for DMD. Hum Mutat. 2009 Jun;30(6):v. doi: 10.1002/humu.21051. PMID: 19479959.
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Showing 13 to 24 of 32 entries