Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 39 entries
Sorted by: Best Match Show Resources per page
Screening for genetic mutations. A review.

Combinatorial chemistry & high throughput screening

Tawata M, Aida K, Onaya T.
PMID: 10702609
Comb Chem High Throughput Screen. 2000 Feb;3(1):1-9. doi: 10.2174/1386207003327756.

A point mutation of a nucleotide within a single gene can have a profound effect on a specific organ and/or the entire human body. DNA sequences associated with human diseases may differ from the corresponding normal sequences by single...

Cite
Tawata M, Aida K, Onaya T. Screening for genetic mutations. A review. Comb Chem High Throughput Screen. 2000;3(1):1-9doi: 10.2174/1386207003327756.
Tawata, M., Aida, K., & Onaya, T. (2000). Screening for genetic mutations. A review. Combinatorial chemistry & high throughput screening, 3(1), 1-9. https://doi.org/10.2174/1386207003327756
Tawata, M, et al. "Screening for genetic mutations. A review." Combinatorial chemistry & high throughput screening vol. 3,1 (2000): 1-9. doi: https://doi.org/10.2174/1386207003327756
Tawata M, Aida K, Onaya T. Screening for genetic mutations. A review. Comb Chem High Throughput Screen. 2000 Feb;3(1):1-9. doi: 10.2174/1386207003327756. PMID: 10702609.
Copy Download .nbib Format: NLM
Unraveling your DNA's secrets.

U.S. news & world report

Shute N.
PMID: 17225550
US News World Rep. 2007 Jan 08;142(1):50-4, 57-8.

No abstract available.

Cite
Shute N. Unraveling your DNA's secrets. US News World Rep. 2007;142(1):50-4, 57-8
Shute, N. (2007). Unraveling your DNA's secrets. U.S. news & world report, 142(1), 50-4, 57-8.
Shute, Nancy. "Unraveling your DNA's secrets." U.S. news & world report vol. 142,1 (2007): 50-4, 57-8.
Shute N. Unraveling your DNA's secrets. US News World Rep. 2007 Jan 08;142(1):50-4, 57-8. PMID: 17225550.
Copy Download .nbib Format: NLM
A brave new world.

U.S. news & world report

[No authors listed]
PMID: 17225551
US News World Rep. 2007 Jan 08;142(1):54.

No abstract available.

Cite
A brave new world. US News World Rep. 2007;142(1):54
(2007). A brave new world. U.S. news & world report, 142(1), 54.
"A brave new world." U.S. news & world report vol. 142,1 (2007): 54.
A brave new world. US News World Rep. 2007 Jan 08;142(1):54. PMID: 17225551.
Copy Download .nbib Format: NLM
The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.

Sociology of health & illness

Skinner D, Raspberry KA, King M.
PMID: 27538589
Sociol Health Illn. 2016 Nov;38(8):1303-1317. doi: 10.1111/1467-9566.12460. Epub 2016 Aug 19.

Genomic sequencing technology is moving rapidly from the research setting into clinical medicine but significant technological and interpretive challenges remain. Exome sequencing (ES) in its recent clinical application provides a genetic diagnosis in about 25 per cent of cases...

Cite
Skinner D, Raspberry KA, King M. The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociol Health Illn. 2016;38(8):1303-1317doi: 10.1111/1467-9566.12460.
Skinner, D., Raspberry, K. A., & King, M. (2016). The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociology of health & illness, 38(8), 1303-1317. https://doi.org/10.1111/1467-9566.12460
Skinner, Debra, et al. "The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing." Sociology of health & illness vol. 38,8 (2016): 1303-1317. doi: https://doi.org/10.1111/1467-9566.12460
Skinner D, Raspberry KA, King M. The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociol Health Illn. 2016 Nov;38(8):1303-1317. doi: 10.1111/1467-9566.12460. Epub 2016 Aug 19. PMID: 27538589; PMCID: PMC5089912.
Copy Download .nbib Format: NLM
Atypical dyskeratosis congenita diagnosed using whole-exome sequencing.

Pediatrics international : official journal of the Japan Pediatric Society

Monoi A, Sugawa M, Kato M, Seki M, Yoshida K, Shiraishi Y, Sakaguchi H, Ogawa S, Takita J.
PMID: 28643950
Pediatr Int. 2017 Aug;59(8):933-935. doi: 10.1111/ped.13314. Epub 2017 Jun 23.

No abstract available.

Cite
Monoi A, Sugawa M, Kato M, et al. Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. Pediatr Int. 2017;59(8):933-935doi: 10.1111/ped.13314.
Monoi, A., Sugawa, M., Kato, M., Seki, M., Yoshida, K., Shiraishi, Y., Sakaguchi, H., Ogawa, S., & Takita, J. (2017). Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. Pediatrics international : official journal of the Japan Pediatric Society, 59(8), 933-935. https://doi.org/10.1111/ped.13314
Monoi, Ayaka, et al. "Atypical dyskeratosis congenita diagnosed using whole-exome sequencing." Pediatrics international : official journal of the Japan Pediatric Society vol. 59,8 (2017): 933-935. doi: https://doi.org/10.1111/ped.13314
Monoi A, Sugawa M, Kato M, Seki M, Yoshida K, Shiraishi Y, Sakaguchi H, Ogawa S, Takita J. Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. Pediatr Int. 2017 Aug;59(8):933-935. doi: 10.1111/ped.13314. Epub 2017 Jun 23. PMID: 28643950.
Copy Download .nbib Format: NLM
Do-it-yourself diagnosis.

EMBO reports

Wolinsky H.
PMID: 16138089
EMBO Rep. 2005 Sep;6(9):805-7. doi: 10.1038/sj.embor.7400508.

No abstract available.

Cite
Wolinsky H. Do-it-yourself diagnosis. EMBO Rep. 2005;6(9):805-7doi: 10.1038/sj.embor.7400508.
Wolinsky, H. (2005). Do-it-yourself diagnosis. EMBO reports, 6(9), 805-7. https://doi.org/10.1038/sj.embor.7400508
Wolinsky, Howard. "Do-it-yourself diagnosis." EMBO reports vol. 6,9 (2005): 805-7. doi: https://doi.org/10.1038/sj.embor.7400508
Wolinsky H. Do-it-yourself diagnosis. EMBO Rep. 2005 Sep;6(9):805-7. doi: 10.1038/sj.embor.7400508. PMID: 16138089; PMCID: PMC1369172.
Copy Download .nbib Format: NLM
German Ethics Council on genetic diagnostics: trend setting?.

European journal of human genetics : EJHG

Buechner B.
PMID: 24169520
Eur J Hum Genet. 2014 Jun;22(6):831-2. doi: 10.1038/ejhg.2013.239. Epub 2013 Oct 30.

On 30 April 2013, the German Ethics Council ('Council') published its opinion on 'The future of genetic diagnostics--from research to clinical application' ('the Opinion'). The Council was asked by the German government to discuss the future of genetic diagnostic...

Cite
Buechner B. German Ethics Council on genetic diagnostics: trend setting?. Eur J Hum Genet. 2013;22(6):831-2doi: 10.1038/ejhg.2013.239.
Buechner, B. (2014). German Ethics Council on genetic diagnostics: trend setting?. European journal of human genetics : EJHG, 22(6), 831-2. https://doi.org/10.1038/ejhg.2013.239
Buechner, Bianca. "German Ethics Council on genetic diagnostics: trend setting?." European journal of human genetics : EJHG vol. 22,6 (2014): 831-2. doi: https://doi.org/10.1038/ejhg.2013.239
Buechner B. German Ethics Council on genetic diagnostics: trend setting?. Eur J Hum Genet. 2014 Jun;22(6):831-2. doi: 10.1038/ejhg.2013.239. Epub 2013 Oct 30. PMID: 24169520; PMCID: PMC4023214.
Copy Download .nbib Format: NLM
Horizon scanning for new genomic tests.

Genetics in medicine : official journal of the American College of Medical Genetics

Gwinn M, Grossniklaus DA, Yu W, Melillo S, Wulf A, Flome J, Dotson WD, Khoury MJ.
PMID: 21233720
Genet Med. 2011 Feb;13(2):161-5. doi: 10.1097/GIM.0b013e3182011661.

PURPOSE: The development of health-related genomic tests is decentralized and dynamic, involving government, academic, and commercial entities. Consequently, it is not easy to determine which tests are in development, currently available, or discontinued. We developed and assessed the usefulness...

Cite
Gwinn M, Grossniklaus DA, Yu W, et al. Horizon scanning for new genomic tests. Genet Med. 2011;13(2):161-5doi: 10.1097/GIM.0b013e3182011661.
Gwinn, M., Grossniklaus, D. A., Yu, W., Melillo, S., Wulf, A., Flome, J., Dotson, W. D., & Khoury, M. J. (2011). Horizon scanning for new genomic tests. Genetics in medicine : official journal of the American College of Medical Genetics, 13(2), 161-5. https://doi.org/10.1097/GIM.0b013e3182011661
Gwinn, Marta, et al. "Horizon scanning for new genomic tests." Genetics in medicine : official journal of the American College of Medical Genetics vol. 13,2 (2011): 161-5. doi: https://doi.org/10.1097/GIM.0b013e3182011661
Gwinn M, Grossniklaus DA, Yu W, Melillo S, Wulf A, Flome J, Dotson WD, Khoury MJ. Horizon scanning for new genomic tests. Genet Med. 2011 Feb;13(2):161-5. doi: 10.1097/GIM.0b013e3182011661. PMID: 21233720.
Copy Download .nbib Format: NLM
Dysmorphology at a distance: results of a web-based diagnostic service.

European journal of human genetics : EJHG

Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K.
PMID: 23838594
Eur J Hum Genet. 2014 Mar;22(3):327-32. doi: 10.1038/ejhg.2013.137. Epub 2013 Jul 10.

In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic...

Cite
Douzgou S, Clayton-Smith J, Gardner S, et al. Dysmorphology at a distance: results of a web-based diagnostic service. Eur J Hum Genet. 2013;22(3):327-32doi: 10.1038/ejhg.2013.137.
Douzgou, S., Clayton-Smith, J., Gardner, S., Day, R., Griffiths, P., Strong, K. (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European journal of human genetics : EJHG, 22(3), 327-32. https://doi.org/10.1038/ejhg.2013.137
Douzgou, S, et al. "Dysmorphology at a distance: results of a web-based diagnostic service." European journal of human genetics : EJHG vol. 22,3 (2014): 327-32. doi: https://doi.org/10.1038/ejhg.2013.137
Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K. Dysmorphology at a distance: results of a web-based diagnostic service. Eur J Hum Genet. 2014 Mar;22(3):327-32. doi: 10.1038/ejhg.2013.137. Epub 2013 Jul 10. PMID: 23838594; PMCID: PMC3925265.
Copy Download .nbib Format: NLM
Microarrays for personalized genomic medicine.

Advances in clinical chemistry

Lam CW, Lau KC, Tong SF.
PMID: 21275337
Adv Clin Chem. 2010;52:1-18. doi: 10.1016/s0065-2423(10)52001-8.

The combination of single nucleotide polymorphisms (SNPs) database and high-density SNP array allows the use of SNPs as informative polymorphic markers for Mendelian diseases with complex traits efficiently. With the high-density and high-resolution SNP arrays, we can detect even...

Cite
Lam CW, Lau KC, Tong SF. Microarrays for personalized genomic medicine. Adv Clin Chem. 2010;52:1-18doi: 10.1016/s0065-2423(10)52001-8.
Lam, C. W., Lau, K. C., & Tong, S. F. (2010). Microarrays for personalized genomic medicine. Advances in clinical chemistry, 521-18. https://doi.org/10.1016/s0065-2423(10)52001-8
Lam, Ching-Wan, et al. "Microarrays for personalized genomic medicine." Advances in clinical chemistry vol. 52 (2010): 1-18. doi: https://doi.org/10.1016/s0065-2423(10)52001-8
Lam CW, Lau KC, Tong SF. Microarrays for personalized genomic medicine. Adv Clin Chem. 2010;52:1-18. doi: 10.1016/s0065-2423(10)52001-8. PMID: 21275337.
Copy Download .nbib Format: NLM
The EuroGentest clinical utility gene cards.

European journal of human genetics : EJHG

Schmidtke J, Cassiman JJ.
PMID: 20725082
Eur J Hum Genet. 2010 Sep;18(9):1068. doi: 10.1038/ejhg.2010.85.

No abstract available.

Cite
Schmidtke J, Cassiman JJ. The EuroGentest clinical utility gene cards. Eur J Hum Genet. 2010;18(9):1068doi: 10.1038/ejhg.2010.85.
Schmidtke, J., & Cassiman, J. J. (2010). The EuroGentest clinical utility gene cards. European journal of human genetics : EJHG, 18(9), 1068. https://doi.org/10.1038/ejhg.2010.85
Schmidtke, Jörg, and Cassiman, Jean-Jacques. "The EuroGentest clinical utility gene cards." European journal of human genetics : EJHG vol. 18,9 (2010): 1068. doi: https://doi.org/10.1038/ejhg.2010.85
Schmidtke J, Cassiman JJ. The EuroGentest clinical utility gene cards. Eur J Hum Genet. 2010 Sep;18(9):1068. doi: 10.1038/ejhg.2010.85. PMID: 20725082; PMCID: PMC2987427.
Copy Download .nbib Format: NLM
Direct-to-consumer genomic testing: Are nurses prepared?.

Nursing

Flowers E, Leutwyler H, Shim JK.
PMID: 32618766
Nursing. 2020 Aug;50(8):48-52. doi: 10.1097/01.NURSE.0000684200.71662.09.

Genomic testing is increasingly common in the consumer marketplace. The role of nurses in educating and counseling patients requires them to be prepared to respond to questions about the results of direct-to-consumer genomic testing. This article describes one individual's...

Cite
Flowers E, Leutwyler H, Shim JK. Direct-to-consumer genomic testing: Are nurses prepared?. Nursing. 2020;50(8):48-52doi: 10.1097/01.NURSE.0000684200.71662.09.
Flowers, E., Leutwyler, H., & Shim, J. K. (2020). Direct-to-consumer genomic testing: Are nurses prepared?. Nursing, 50(8), 48-52. https://doi.org/10.1097/01.NURSE.0000684200.71662.09
Flowers, Elena, et al. "Direct-to-consumer genomic testing: Are nurses prepared?." Nursing vol. 50,8 (2020): 48-52. doi: https://doi.org/10.1097/01.NURSE.0000684200.71662.09
Flowers E, Leutwyler H, Shim JK. Direct-to-consumer genomic testing: Are nurses prepared?. Nursing. 2020 Aug;50(8):48-52. doi: 10.1097/01.NURSE.0000684200.71662.09. PMID: 32618766; PMCID: PMC7410263.
Copy Download .nbib Format: NLM
Showing 1 to 12 of 39 entries