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[PDF] Top 20 Collaboratively charting the gene-to-phenotype network of human congenital heart defects

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Collaboratively charting the gene-to-phenotype network of human congenital heart defects

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

... known gene-phenotype links, OMIM (Online Mendelian Inheritance in Man) and MEDLINE were manually searched by an expert in the field for genes that are linked with any of 139 relevant cardiac defect ... See full document

9

SHROOM3 DEFICIENT MICE SHOW CONGENITAL HEART DEFECTS

SHROOM3 DEFICIENT MICE SHOW CONGENITAL HEART DEFECTS

... understand heart tube ...the heart (Hildebrand and Soriano, 1999; Lee et ...in heart tube closure and abnormal heart tube looping suggesting that unlike in the neural tube it was not essential ... See full document

121

MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1

MEF2C regulates outflow tract alignment and transcriptional control of Tdgf1

... in human congenital heart disease (Roessler et ...2007). Congenital heart defects due to disrupted Nodal signaling have generally been associated with global defects in ... See full document

6

Mutations in Hnrnpa1 cause congenital heart defects

Mutations in Hnrnpa1 cause congenital heart defects

... in human CHDs were also detected. We sequenced the human HNRNPA1 gene in 273 Chinese CHD trio probands and 225 sporadic Pakistani nonsyndrom- ic CHD patients and discovered one rare inherited ... See full document

22

Original Article Screening key genes associated with congenital heart defects in Down syndrome based on differential expression network

Original Article Screening key genes associated with congenital heart defects in Down syndrome based on differential expression network

... UBC gene codes for a polyubiquitin precursor with exact head to tail repeats ...the gene content of human chromosome 21 with mouse modules of DS, and indicated that the orthologous genes encoded ... See full document

9

Trends in Congenital Heart Defects in Infants With Down Syndrome

Trends in Congenital Heart Defects in Infants With Down Syndrome

... syndrome–related congenital heart defects among all fetuses at ...with congenital heart defects of minor clinical significance during latter years, and thus underestimating ... See full document

11

Congenital Heart Defects and Receipt of Special Education Services

Congenital Heart Defects and Receipt of Special Education Services

... birth defects ( n = 860 715) were identi fi ed from birth certi fi ...noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs ... See full document

11

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects

... Infants born in the latter 5 years of the study (2009–2013) had markedly better survival than those born in the earlier 5 years (2004–2008) across severity classes (Table 4). Clinical characteristics such as gestational ... See full document

13

CONGENITAL PERICARDIAL DEFECTS WITH HERNIATION OF THE HEART INTO THE PLEURAL SPACE

CONGENITAL PERICARDIAL DEFECTS WITH HERNIATION OF THE HEART INTO THE PLEURAL SPACE

... A congenital defect in the pericardium with subsequent herniation of part or all of the heart into the pleural space is an un- usual anomaly, the precise incidence of which is not known.[r] ... See full document

5

Deformation pattern and predictive value of right ventricular longitudinal strain in children with pulmonary arterial hypertension

Deformation pattern and predictive value of right ventricular longitudinal strain in children with pulmonary arterial hypertension

... chd, congenital heart defects; chd-PAH, pulmonary arterial hypertension associated with congenital heart defect; FAC, fractional area change; IVS, interventricular septum; LpsS, ... See full document

11

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

... with the extra copy of the IGF1R (insulin-like growth factor 1 receptor) gene located at 15q26.3 [23]. However, in our patient, no findings suggestive of overgrowth were observed. This can be explained by the fact ... See full document

7

Identification of congenital rubella syndrome in Sudan

Identification of congenital rubella syndrome in Sudan

... served defects were caused by other pathogens involved in congenital disorders such as Toxoplasma gondii, cyto- megalovirus or herpes simplex virus ...in congenital disorders de- tected in ... See full document

5

Constructing an integrated gene similarity network for the identification of disease genes

Constructing an integrated gene similarity network for the identification of disease genes

... similarity network and gene expression ...integrated network is not a trivial assessment because there is no dir- ect way to ascertain its rationality and ...grated network. Therefore, we need ... See full document

15

Maternal residential proximity to chlorinated solvent emissions and birth defects in offspring: a case–control study

Maternal residential proximity to chlorinated solvent emissions and birth defects in offspring: a case–control study

... and congenital heart de- fects in Wisconsin, older case-mothers (38 years or older) of offspring with congenital heart defects were over three times more likely than older ... See full document

16

 CONGENITAL ANOMALIES PREVALENCE IN KUMAUN REGION OF UTTARAKHAND, INDIA: A MULTICENTRE STUDY

 CONGENITAL ANOMALIES PREVALENCE IN KUMAUN REGION OF UTTARAKHAND, INDIA: A MULTICENTRE STUDY

... that congenital heart defects, cleft lip and palate, neural tube defects are the most prevalent birth defect cases in Kumaun region of Uttarakhand, ...birth defects remain ...birth ... See full document

7

Neurologic Status of Newborns With Congenital Heart Defects Before Open Heart Surgery

Neurologic Status of Newborns With Congenital Heart Defects Before Open Heart Surgery

... significant association (P , .05) between neurobe- havioral status (normal/abnormal) and cyanotic ver- sus acyanotic CHDs, in which newborns with acya- notic CHDs were more likely to be neurologically abnormal (78.6%) ... See full document

9

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects

... TPM1 gene in 380 patients with various ...normal heart development and contractile func- ...TPM1 gene, of which three we predict would lead to a pathological phenotype; we therefore consider ... See full document

13

Outcomes when congenital heart disease is diagnosed antenatally versus postnatally in the UK: a retrospective population-based study

Outcomes when congenital heart disease is diagnosed antenatally versus postnatally in the UK: a retrospective population-based study

... Levey et al. [15] looked at a wider range of congenital heart diseases. Their four year retrospective review in- cluded 439 cases of varying diagnoses, creating a large heterogeneous group with widely ... See full document

8

1 Effects of Involuntary Smoking and Vaping on the

1 Effects of Involuntary Smoking and Vaping on the

... passive smoking as well as paternal smoking increased the risk of congenital heart defects in 127.. offspring [58].[r] ... See full document

8

Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses

Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses

... as congenital cystic adenoma- toid malformation (CCAM; incidence ...complex, congenital lobar em- physema, bronchial atresia, foregut duplication cysts, and chest tumors, must be differentiated from ... See full document

6

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