NKX2.5 mutations in patients with tetralogy of fallot

Circulation

Volumn 104, Issue 21, 2001, Pages 2565-2568

  Goldmuntz, Elizabeth ^a   Geiger, Elizabeth ^a   Benson, D Woodrow ^b,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Genetics; Heart defects, congenital; Tetralogy of Fallot

Indexed keywords

HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.5; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME ABERRATION; ELECTROCARDIOGRAM; EPICARDIUM MAPPING; FALLOT TETRALOGY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LUNG ATRESIA; MAJOR CLINICAL STUDY; MALE; NEWBORN; PHENOTYPE; POLYMERASE CHAIN REACTION; PR INTERVAL; PRIORITY JOURNAL;

EID: 0035923555     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/hc4601.098427     Document Type: Article

References (19)

1. Congenital heart disease: Prevalence at livebirth: The Baltimore- Washington Infant Study
2. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
3. Frequency of 22q11 deletions in patients with conotruncal defects
4. Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study
5. Chromosome 22q11 microdeletions in tetralogy of Fallot
6. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study
7. Malformations of the cardiac outflow tract
8. Jaggedl mutations in patients ascertained with isolated congenital heart defects
9. Human Jaggedl mutations in patients presenting with tetralogy of Fallot
10. Congenital heart disease caused by mutations in the transcription factor NKX2-5
11. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
12. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
13. Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease
14. Right-sided aorta, I: Occurrence of right aortic arch in various types of congenital heart disease; II, right aortic arch, right descending aorta, and associated anomalies
15. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus
16. Mutations in the human Jagged1 gene are responsible for Alagille syndrome
17. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
18. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
19. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome