Family Medicine - Basic Science/Genetics News & Articles

1 Genome-wide Analysis of BMI in Adolescents and Young Adults Reveals Additional Insight into the Effects of Genetic Loci over the Life Course Human Molecular Genetics, May 21, 2013    Review Article

2 The importance of mixed selectivity in complex cognitive tasks Nature, May 21, 2013    Review Article

3 HAPLOFIND: A New Method for High-Throughput mtDNA Haplogroup Assignment Human Mutation, May 21, 2013    Review Article

4 Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type Human Molecular Genetics, May 21, 2013    Review Article

5 Single-cell transcriptomics reveals bimodality in expression and splicing in immune cells Nature, May 21, 2013    Review Article

6 A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence Nature, May 21, 2013    Review Article

7 Oxidized eicosapentaenoic acids more potently reduce LXRalpha-induced cellular triacylglycerol via suppression of SREBP-1c, PGC-1beta and GPA than its intact form Full Text Lipids in Health and Disease, May 21, 2013

8 PGC-1{alpha} is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis Human Molecular Genetics, May 21, 2013    Review Article

9 Descriptive Epidemiology of Idiopathic Clubfoot American Journal of Medical Genetics Part A, May 21, 2013    Review Article

10 Progressive Extreme Heterotopic Calcification American Journal of Medical Genetics Part A, May 21, 2013    Review Article

11 Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly Journal of Medical Genetics, May 21, 2013    Evidence Based Medicine

12 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome Journal of Medical Genetics, May 21, 2013    Review Article

13 A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies Journal of Medical Genetics, May 21, 2013    Evidence Based Medicine

14 An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor for Graves’ disease Journal of Medical Genetics, May 21, 2013    Evidence Based Medicine

15 Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR Journal of Medical Genetics, May 21, 2013    Review Article

16 Genetic Heterogeneity in Type III Familial Cutaneous Syndactyly and Linkage to Chromosome 7q36 American Journal of Medical Genetics Part A, May 21, 2013    Review Article

17 Recurrence of Urorectal Septum Malformation Sequence Spectrum Anomalies in Siblings: Time to Explore the Genetics American Journal of Medical Genetics Part A, May 21, 2013    Review Article

18 Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease Human Mutation, May 21, 2013    Review Article

19 Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing Human Mutation, May 21, 2013    Review Article

20 H-rev107 regulates prostaglandin D2 synthase-mediated suppression of cellular invasion in testicular cancer cells Full Text Journal of Biomedical Science, May 21, 2013

1 Prevention of mother-to-child transmission of hepatitis B virus (HBV) during pregnancy and the puerperium: Current standards of care Australian and New Zealand Journal of Obstetrics and Gynaecology, March 6, 2013

2 Cardiovascular events after clarithromycin use in lower respiratory tract infections: analysis of two prospective cohort studies British Medical Journal, April 10, 2013    Free full text

3 Trends in the management and outcome of HIV-1-infected women and their infants in the NISDI Perinatal and LILAC cohorts, 2002-2009 International Journal of Gynecology & Obstetrics, April 10, 2013

4 Safety of Pacemaker Implantation in Nonagenarians Circulation, April 10, 2013

5 Outpatient parenteral antimicrobial therapy British Medical Journal, April 10, 2013

6 Long-Term Survival of Patients With Radiation Heart Disease Undergoing Cardiac Surgery Circulation, April 10, 2013

7 Proton Pump Inhibitors and Risk of 1-Year Mortality and Rehospitalization in Older Patients Discharged From Acute Care Hospitals Proton Pump Inhibitors in Older Patients JAMA Internal Medicine, April 10, 2013

8 Effects of vitamin D supplementation on body fat accumulation, inflammation, and metabolic risk factors in obese adults with low vitamin D levels -- Results from a randomized trial European Journal of Internal Medicine , April 11, 2013

9 Screening for Prostate Cancer: A Guidance Statement From the Clinical Guidelines Committee of the American College of Physicians Annals of Internal Medicine, April 10, 2013    Clinical Guideline

10 Walking Versus Running for Hypertension, Cholesterol, and Diabetes Mellitus Risk Reduction Arteriosclerosis, Thrombosis, and Vascular Biology, April 17, 2013

11 Pharmacologic Therapy for Primary Restless Legs Syndrome A Systematic Review and Meta-analysis Pharmacotherapy for Primary Restless Legs Syndrome JAMA Internal Medicine, April 10, 2013    Evidence Based Medicine    Review Article

12 Oral nifedipine versus intravenous labetalol in hypertensive urgencies and emergencies of pregnancy: a randomized clinical trial Obstetric Medicine, April 2, 2013

13 Late Outcomes of Mitral Valve Repair for Mitral Regurgitation Due to Degenerative Disease Circulation, April 10, 2013

14 The Global Cardiovascular Risk Transition Circulation, April 10, 2013

15 Ultrasound imaging for lumbar punctures and epidural catheterisations: systematic review and meta-analysis British Medical Journal, April 10, 2013    Free full text    Evidence Based Medicine    Review Article

16 Effect of Race and Ethnicity on Outcomes With Drug-Eluting and Bare Metal Stents Circulation, April 10, 2013

17 Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review Nutrition & Metabolism, April 10, 2013    Free full text    Evidence Based Medicine    Review Article

18 Coronary artery calcium score prediction of all cause mortality and cardiovascular events in people with type 2 diabetes: systematic review and meta-analysis British Medical Journal, April 10, 2013    Free full text    Evidence Based Medicine    Review Article

19 Cellular Aging Reflected by Leukocyte Telomere Length Predicts Advanced Atherosclerosis and Cardiovascular Disease Risk Arteriosclerosis, Thrombosis, and Vascular Biology, May 28, 2010

20 Resveratrol regulates human adipocyte number and function in a Sirt1-dependent manner American Journal of Clinical Nutrition, May 27, 2010