'Mutation screening' diaporamas de présentation

How to find an association between a disease and a gene?

How to find an association between a disease and a gene?. Alex V. Postma Department of Anatomy, Embryology & Phsyiology Heart Failure Research Center AMC a.v.postma@amc.uva.nl. 50% of cardiac mortality US: ~250.000 SCD / year NL: ~300 SCD / week, 15.000 / year VF most common underlying

653 views • 53 slides

SPECTRUM OF THE BTK GENE MUTATIONS IN CZECH XLA PATIENTS

470 views • 34 slides

Microsatellite Instability (MSI) and Mutation Detection in HNPCC

Microsatellite Instability (MSI) and Mutation Detection in HNPCC. Jennie Bell West Midlands Regional Genetics Service. Overview. Introduction to HNPCC and MSI Current strategies Impact on mutation detection of MSI and IHC. Contribution of familial cancer syndromes to colorectal cancer.

1.04k views • 33 slides

Evidence-Based Strategies for Prenatal Maternal Screening

GeneticScreeningWRAP. Evidence-Based Strategies for Prenatal Maternal Screening. Wayne W. Grody , MD, PhD Professor and Director Diagnostic Molecular Pathology Laboratory Department of Pediatrics and Human Genetics David Geffen School of Medicine at UCLA Los Angeles, California.

459 views • 27 slides

Topics

Topics. Complement Factor H and age-related macular degeneration A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Hageman, 2005

108 views • 1 slides