[PDF] Top 20 Molecular and functional analysis of DAND5 in human Congenital Heart Disease (CHD)

Molecular and functional analysis of DAND5 in human Congenital Heart Disease (CHD)

... majority of congenital heart disease (CHD) is sporadic, with a minority of cases associated with a known genetic ...Combinations of genetic- environmental factors are implicated ... See full document

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Identification of functional mutations in GATA4 in patients with congenital heart disease.

... Congenital heart disease (CHD) is one of the most prevalent developmental anomalies and the leading cause of noninfectious morbidity and mortality in ...prevalence ... See full document

9

Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis.

... validation of exonic splicing enhancers, demonstrated that ...upstream of the variant [50], exerting an influence on translational ...role of 63A.G variant in CHD, the underlying mechanism is ... See full document

6

Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

... A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe ... See full document

5

Uncovering the rare variants of DLC1 isoform 1 and their functional effects in a Chinese sporadic congenital heart disease cohort.

... role of DLC1 in cell migration To study whether the rare variants identified in the CHD cohort affect the protein function of DLC1, we cloned 7 of the variants, including 4 private ... See full document

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Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

... CHD and/or laterality defect [31]. Therefore, we are not in the presence of a Mendel- ian ...the DAND5 variant suggests incomplete penetrance and sustains the multi- factorial etiology ... See full document

9

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

... cases and controls were recruited from the Children’s Hospital of Philadelphia (CHOP) between 12/12/2003 and 08/25/2008 on a protocol approved by the Institutional Review Boards of CHOP ... See full document

7

Experience of parents of children with congenital heart disease : feelings and obstacles

... representativeness and homogeneity. Formulation and reformulation of hypotheses and objectives can also be carried out in this ...form of categorization, the type of ... See full document

9

Congenital Heart Disease Prevalence in Portugal in 2015: Data from the National Register of Congenital Anomalies

... prevalence of congenital heart disease in this study was 5/1000 live-births (339 live-births, 20% with critical ...tetralogy of Fallot (7%) and pulmonary stenosis (5%). ... See full document

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ASSESSEMENT OF FAMILIES OF CHILDREN WITH CONGENITAL HEART DISEASE AND NURSING INTERVENTION

... discovery of a case of congenital heart disease in one of its members and discuss the nursing intervention directed to families of children with ... See full document

14

Acoustic variations associated with congenital heart disease

... nature of deviant voice physiology in preoperative children with congenital heart ...with congenital heart disease were enrolled. Their cries and related acoustic ... See full document

5

Cardiovascular Complications of HIV

... coronary heart disease, and the risk of subsequent coronary heart disease events in patients infected with human immunodeficiency virus: the Data Collection on ... See full document

6

Barriers And Profits Of Distan ce Education In Operations Research Based Decision Analysis

... layer in web-based systems is usually developed as set of HTML (or DHTML) files with server side processing provided by merging HTML with general programming code ...Pages). In practice, this design ... See full document

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Molecular structure and functional analysis of runx3 in zebrafish

... expressed in a number of tissues at specific time windows during ...embryogenesis. In the mouse embryo, expression of Runx1 is first detected in definitive hematopoietic stem cells ... See full document

243

Congenital heart disease in the newborn requiring early intervention

... pulmonary and systemic ...decrease in systemic and myocardial flow. Signs of poor perfusion are oliguria, metabolic acidosis and myocardial ...ields of neonatal cardiac intensive ... See full document

9

Human genetics and prevention of coronary heart disease

... 1) Having discussed the genetic knowledge, expertise, methods, and research strategies avail- able, the meeting suggested that genetic epide- miologic approaches should be [r] ... See full document

2

Proteinuria in Congenital Heart Disease: Is It a Real Problem?

... developed in 5 of 83 patients with CCHD (6%) after the age of 21 ...complication of congenital heart disease and the risk of developing renal impairment is ... See full document

5

Joint Analysis of the Discount Factor and Payoff Parameters in Dynamic Discrete Choice Games

... prices and quantities for all the US regional markets from the US Geological Survey’s Mineral ...capacities of plants and plant-level information that Ryan has collected for the Portland cement ... See full document

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The Existence Of Leading Islands Securing And The Border Areas Unitary State Of Indonesia An Analysis In Law Perspective

... management of coastal areas, so it can be arranged on the setting, management, utilization, preservation and protection and security of marine areas and determination of ... See full document

4

The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects

... Celiac disease (CD) is a systemic disorder of immune-mediated which is caused by dietary gluten habits in genetically susceptible ...found in wheat, and barley. Celiac disease is ... See full document

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