Genomes and Genes
Experts and Doctors on cardiovascular abnormalities in United States
Locale: United States
Topic: cardiovascular abnormalities
- Oldenburg W. Commentary on "Inferior mesenteric artery aneurysm combined with renal artery stenosis in a patient with neurofibromatosis". Perspect Vasc Surg Endovasc Ther. 2006;18:224-5 pubmed
- Gripp K, Lin A, Stabley D, Nicholson L, Scott C, Doyle D, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A. 2006;140:1-7 pubmed..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete. ..
- Rudnick E, Chen E, Manning S, Perkins J. PHACES syndrome: otolaryngic considerations in recognition and management. Int J Pediatr Otorhinolaryngol. 2009;73:281-8 pubmed publisher..To describe the otolaryngic manifestations of PHACES and evaluate current diagnostic and management principles for these patients...
- McQuinn T, Miga D, Mjaatvedt C, Phelps A, Wessels A. Cardiopulmonary malformations in the inv/inv mouse. Anat Rec. 2001;263:62-71 pubmed..Our data therefore suggest that inversin, the product of the inv locus, may have specific roles in cardiac morphogenesis independent of its role in situs determination. ..
- Hu R, Sheng J, Qi X, Xu Z, Takahashi T, Varshavsky A. The N-end rule pathway as a nitric oxide sensor controlling the levels of multiple regulators. Nature. 2005;437:981-6 pubmed
- Ellison J, Yagubyan M, Majumdar R, Sarkar G, Bolander M, Atkinson E, et al. Evidence of genetic locus heterogeneity for familial bicuspid aortic valve. J Surg Res. 2007;142:28-31 pubmed..0 for all markers tested. There is no evidence of linkage of BAV in our pedigree to either the NOTCH1 gene or to the chromosome 15 locus. The disorder in this family appears to be caused by a gene at a novel locus. ..
- Timur A, Driscoll D, Wang Q. Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis. Cell Mol Life Sci. 2005;62:1434-47 pubmed
- Chapman C, Kohmoto T, Kelly A, Thornton F, Keevil J. Cardiac computed tomography and quadricuspid aortic valve: a case report. WMJ. 2010;109:219-21 pubmed..We report a case of a quadricuspid aortic valve, which was found by cardiac multidetector computed tomography during a pre-operative assessment for severe aortic regurgitation. ..
- Kubalak S, Hutson D, Scott K, Shannon R. Elevated transforming growth factor beta2 enhances apoptosis and contributes to abnormal outflow tract and aortic sac development in retinoic X receptor alpha knockout embryos. Development. 2002;129:733-46 pubmed