Volume 34 Number 12 March 26 - April 2, 2015
Birth Defects and Child Health
Doctors' awareness concerning primary immunodeficiencies in Brazil. 
Dantas EO et al. Allergol Immunopathol (Madr) 2015 Mar 18.
Dantas EO et al. Allergol Immunopathol (Madr) 2015 Mar 18.
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
King MJ et al. Int J Lab Hematol 2015 Mar 18.
King MJ et al. Int J Lab Hematol 2015 Mar 18.
Cancer
A retrospective study of the impact of 21-gene recurrence score assay on treatment choice in node positive micrometastatic breast cancer.
Frazier TG et al. Pharmaceuticals (Basel) 2015 8(1) 107-22
Frazier TG et al. Pharmaceuticals (Basel) 2015 8(1) 107-22
Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction.
Heemskerk-Gerritsen BA et al. J. Natl. Cancer Inst. 2015 May 107(5)
Heemskerk-Gerritsen BA et al. J. Natl. Cancer Inst. 2015 May 107(5)
Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers.
Laitman Y et al. Breast Cancer Res. Treat. 2015 Mar 19.
Laitman Y et al. Breast Cancer Res. Treat. 2015 Mar 19.
Comparative effectiveness of screening strategies for Lynch syndrome.
Barzi A et al. J. Natl. Cancer Inst. 2015 Apr 107(4)
Barzi A et al. J. Natl. Cancer Inst. 2015 Apr 107(4)
Effects of genetic and environmental risk assessment feedback on colorectal cancer screening adherence.
Myers RE et al. J Behav Med 2015 Mar 18.
Myers RE et al. J Behav Med 2015 Mar 18.
Family matters in Lynch syndrome.
Kastrinos F et al. J. Natl. Cancer Inst. 2015 Apr 107(4)
Kastrinos F et al. J. Natl. Cancer Inst. 2015 Apr 107(4)
Genotype-phenotype correlations by ethnicity and mutation location in BRCA mutation carriers.
Bayraktar S et al. Breast J 2015 Mar 19.
Bayraktar S et al. Breast J 2015 Mar 19.
Identification of a candidate gene panel for the early diagnosis of prostate cancer.
Leyten GH et al. Clin. Cancer Res. 2015 Mar 18.
Leyten GH et al. Clin. Cancer Res. 2015 Mar 18.
In the era of genomics, should tumor size be reconsidered as a criterion for neoadjuvant chemotherapy?
Pivot X et al. Oncologist 2015 Mar 20.
Pivot X et al. Oncologist 2015 Mar 20.
miR-test: A blood test for lung cancer early detection.
Montani F et al. J. Natl. Cancer Inst. 2015 Jun 107(6)
Montani F et al. J. Natl. Cancer Inst. 2015 Jun 107(6)
Personalized assessment and management of women at risk for breast cancer in North America.
Pruthi S et al. Womens Health (Lond Engl) 2015 Mar 11(2) 213-24
Pruthi S et al. Womens Health (Lond Engl) 2015 Mar 11(2) 213-24
Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.
Sheffield BS et al. PLoS ONE 2015 10(3) e0119689
Sheffield BS et al. PLoS ONE 2015 10(3) e0119689
Psychosocial Impact of Lynch Syndrome on Affected Individuals and Families.
Galiatsatos P et al. Dig. Dis. Sci. 2015 Mar 19.
Galiatsatos P et al. Dig. Dis. Sci. 2015 Mar 19.
Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer.
Adachi M, et al. Mol Clin Oncol. 2015 Mar;3(2):267-273.
Adachi M, et al. Mol Clin Oncol. 2015 Mar;3(2):267-273.
Validation of an online questionnaire for identifying people at risk of familial and hereditary colorectal cancer.
Kallenberg FG, et al. Fam Cancer. 2015 Mar 24.
Kallenberg FG, et al. Fam Cancer. 2015 Mar 24.
Chronic Diseases
A novel testing model for opportunistic screening of pre-diabetes and diabetes among U.S. adults.
Zhang Y et al. PLoS ONE 2015 10(3) e0120382
Zhang Y et al. PLoS ONE 2015 10(3) e0120382
Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
Haralambos K et al. Atherosclerosis 2015 Mar 6. 240(1) 190-196
Haralambos K et al. Atherosclerosis 2015 Mar 6. 240(1) 190-196
Comparison of coronary heart disease genetic assessment with conventional cardiovascular risk assessment in primary care: reflections on a feasibility study.
Qureshi N et al. Prim Health Care Res Dev 2015 Mar 23. 1-11
Qureshi N et al. Prim Health Care Res Dev 2015 Mar 23. 1-11
Effect of the Mediterranean diet on the lipid-lipoprotein profile: Is it influenced by the family history of dyslipidemia?
Bédard A, et al. J Nutrigenet Nutrigenomics. 2015 Mar 4;7(4-6):175-185.
Bédard A, et al. J Nutrigenet Nutrigenomics. 2015 Mar 4;7(4-6):175-185.
Familial spontaneous coronary artery dissection: Evidence for genetic susceptibility.
Goel K et al. JAMA Intern Med 2015 Mar 23.
Goel K et al. JAMA Intern Med 2015 Mar 23.
Genetic testing: Genetic risk and statin preventative therapy.
Bahcall OG et al. Nat. Rev. Genet. 2015 Apr 16(4) 194
Bahcall OG et al. Nat. Rev. Genet. 2015 Apr 16(4) 194
Stroke patients' knowledge about cardiovascular family history-the Norwegian Stroke in the Young Study (NOR-SYS).
Øygarden H et al. BMC Neurol 2015 Dec 15(1) 276
Øygarden H et al. BMC Neurol 2015 Dec 15(1) 276
Ethics, Policy and Law
The impact of commercialisation and genetic data sharing arrangements on public trust and the intention to participate in biobank research.
Critchley C et al. Public Health Genomics 2015 Mar 13.
Critchley C et al. Public Health Genomics 2015 Mar 13.
The right to know and genetic testing.
Sheehan M et al. J Med Ethics 2015 Apr 41(4) 287-8
Sheehan M et al. J Med Ethics 2015 Apr 41(4) 287-8
Genomics in Practice
Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.
Vrecar I et al. Biochem Med (Zagreb) 2015 25(1) 84-9
Vrecar I et al. Biochem Med (Zagreb) 2015 25(1) 84-9
Genetics and genomic medicine in Colombia.
De Castro M et al. Mol Genet Genomic Med 2015 Mar 3(2) 84-91
De Castro M et al. Mol Genet Genomic Med 2015 Mar 3(2) 84-91
Genetic counselors and genomic counseling in the United Kingdom.
Middleton A et al. Mol Genet Genomic Med 2015 Mar 3(2) 79-83
Middleton A et al. Mol Genet Genomic Med 2015 Mar 3(2) 79-83
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al. Mol Genet Genomic Med 2015 Mar 3(2) 143-54
Drew AP et al. Mol Genet Genomic Med 2015 Mar 3(2) 143-54
Individualized medicine enabled by genomics in Saudi Arabia.
Abu-Elmagd M et al. BMC Med Genomics 2015 8531
Abu-Elmagd M et al. BMC Med Genomics 2015 8531
Public perceptions of disease severity but not actionability correlate with interest in receiving genomic results: Nonalignment with current trends in practice.
Graves KD et al. Public Health Genomics 2015 Mar 12.
Graves KD et al. Public Health Genomics 2015 Mar 12.
Pharmacogenomics
ASHP statement on the pharmacist's role in clinical pharmacogenomics.
Am J Health Syst Pharm 2015 Apr 1. 72(7) 579-81
Am J Health Syst Pharm 2015 Apr 1. 72(7) 579-81
Challenges to integrating pharmacogenetic testing into medication therapy management.
Haga SB et al. J Manag Care Spec Pharm 2015 Apr 21(4) 346-352
Haga SB et al. J Manag Care Spec Pharm 2015 Apr 21(4) 346-352
Clinical pharmacogenetics implementation consortium (CPIC) guidelines for CYP3A5 genotype and tacrolimus dosing.
Birdwell KA et al. Clin. Pharmacol. Ther. 2015 Mar 18.
Birdwell KA et al. Clin. Pharmacol. Ther. 2015 Mar 18.
Pharmacogenetic testing for analgesic adverse effects: Pediatric case series.
Manworren RC et al. Clin J Pain 2015 Mar 23.
Manworren RC et al. Clin J Pain 2015 Mar 23.
Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.
Samwald M et al. BMC Med Inform Decis Mak 2015 Dec 15(1) 130
Samwald M et al. BMC Med Inform Decis Mak 2015 Dec 15(1) 130
Reproductive Health
A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes.
Agatisa PK et al. Prenat. Diagn. 2015 Mar 19.
Agatisa PK et al. Prenat. Diagn. 2015 Mar 19.
Reviews, News and Commentaries
Harnessing RNA interference for therapy: The silent treatment.
Lieberman J, et al. JAMA. 2015 Mar 24;313(12):1207-1208.
Lieberman J, et al. JAMA. 2015 Mar 24;313(12):1207-1208.
Genomics, Big Data, and Medicine Seminar Series - Eric D. Green, You Tube, Mar 25
You Tube, Mar 25William Cayley: About what are we being precise? The BMJ, Mar 25
The BMJ, Mar 25NIH awards CCHMC $2.2M to develop database of rare childhood genetic disorders, Genome Web, Mar 24 [by free subscription only]
Genome Web, Mar 24 [by free subscription only]Precision medicine: Who benefits from aspirin to prevent colorectal cancer? By Dr. Francis Collins, NIH, Mar 24
By Dr. Francis Collins, NIH, Mar 24Extreme cryptography paves way to personalized medicine, by Erika Check Hayden, Nature News, Mar 23
by Erika Check Hayden, Nature News, Mar 23Prenatal screening advances with non-invasive blood test now available in Australia, ABC.au News, March 23
ABC.au News, March 23This is why you shouldn’t believe that exciting new medical study, by Julia Belluz, Vox, Mar 23
by Julia Belluz, Vox, Mar 23Too young for colorectal cancer? By Kathleen Hoffman, Medivizor, Mar 19
By Kathleen Hoffman, Medivizor, Mar 19Tools and Databases
Family Genome Browser: Visualizing genomes with pedigree information.
Juan L et al. Bioinformatics 2015 Mar 18.
Juan L et al. Bioinformatics 2015 Mar 18.
PathVisio 3: an extendable pathway analysis toolbox.
Kutmon M, et al. PLoS Comput Biol. 2015 Feb 23;11(2):e1004085
Kutmon M, et al. PLoS Comput Biol. 2015 Feb 23;11(2):e1004085
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