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| 1 | Genetic testing in congenital heart disease:A clinical approach显示文摘Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. | Marie A Chaix Gregor Andelfinger Paul Khairy | 2016 | World Journal of Cardiology2016,8,2: | 8 |
| 2 | Sens Actuat B Chem 显示文摘 | Hassen W M Chaix C Abdelghani A | 2008 | 134(2): 755-7602008,134,2: | 1 |
| 3 | The Transcription Factors T-bet and Eomes Control Key Checkpoints of Natural Killer Cell Maturation显示文摘 | Gordon S M Chaix J Rupp L J | 2012 | Immunity2012,36,1: | 1 |
| 4 | Progress in SiC bulk growth 显示文摘 | ANIKIN M CHAIX O PERNOT E | 2000 | Materials Science Forum2000,33,833934034: | 1 |
| 5 | Surface functionalization of oil-in-water nanoemulsion with a reactive copolymer: Colloidal characterization and peptideimmobilization显示文摘 | Chaix C Pacard E Elassari A | 2003 | Colloids and Surfaces B: Biointerfaces2003,29,1: | 1 |
| 6 | Pilot Scale Membrane Separation of Electroplating wastewater by Reverse: Osmosis 显示文摘 | CHAIX | 1997 | Journal of Membrane Science1997,123,: | 1 |
| 7 | Maturation of mouse NK cells is a 4- stage developmental program 显示文摘 | Chiossone L Chaix J Fuseri N | 2009 | Blood2009,113,22: | 1 |
| 8 | The transcription factors T-bet and Eomes control key checkpoints of natural killer cell maturation显示文摘 | Gordon S M Chaix J Rupp L J | 2012 | Immunity2012,36,1: | 1 |
| 9 | Ultrasonie wave propagation in heterogeneous solid media: theoretical analysis and experimental validation显示文摘 | Chaix J F Gamier V Corneloup G | 2006 | Ultrasonics2006,44,: | 1 |
| 10 | Experience of two trauma-cen- ters with pancreatic injuries requiring immediate surgery显示文摘 | Ouai'ssi M Sielezneff I Chaix JB | 2008 | Hepatogastro- enterology2008,55,84: | 1 |
| 11 | Identification,activation, and selective in vivo ablation of mouse NKcells via NKp46 显示文摘 | Walzer T Blery M Chaix J | 2007 | Proc Natl Acad Sci USA2007,104,9: | 1 |
| 12 | Perspectives on human genetic variation from the HapMap Project 显示文摘 | McVean G Spencer C C A Chaix R | 2005 | PLoS Genetics2005,1,4: | 1 |
| 13 | Expression of a soluble and activatable form of bovine procarboxypeptidase A in Escherichia coli显示文摘 | Seddi R Chaix JC Puigserver A | 2003 | Protein Expression and Purification2003,27,2: | 1 |
| 14 | Concrete damage evolution analysis by backscattered ultrasonic waves 显示文摘 | Jean-Francois Chaix Vincent Gamier Gilles Comeloup | 2003 | NDT&E International2003,36,7: | 1 |
| 15 | Maturation of mouse NK cells is a four-stage developmental program 显示文摘 | Laura Chiossone Julie Chaix Nicolas Fuseri | 2009 | Blood2009,113,22: | 1 |
| 16 | Reading abilities and cognitive functions of children with epilepsy : influence of epi - lepsy syndrome 显示文摘 | Chaix Y Laguitton V Lauwers - Cancs V | 2006 | Brain Dev2006,28,2: | 1 |
| 17 | Identifying built environmental patterns using cluster analysis and GIS:relationships with walking,cycling and body mass index in French adults显示文摘 | Charreire H Weber C Chaix B | 2012 | Int J Behav Nutr Phys Act2012,9,: | 1 |
| 18 | The transcription factors T-bet and Eomes control key checkpoints of natural killer cell maturation显示文摘 | Gordon SM Chaix J Rupp LJ | 2012 | Immunity2012,36,1: | 1 |
| 19 | Ultrasonic wave propagation in heterogeneous solid media:Theoretical analysis and experimental validation显示文摘 | Chaix J F Gamier V Comeloup G | 2006 | Ultrasonics2006,44,2: | 1 |
| 20 | Individual/neighborhood social fac- tors and blood pressure in the RECORD Cohort Study: which risk factors explain the associations 显示文摘 | Chaix B Bean K Leal C | 2010 | Hypertension2010,55,3: | 1 |