Author:
Owens Sarah E.,Broman Karl W.,Wiltshire Tim,Elmore J. Bradford,Bradley Kevin M.,Smith Jeffrey R.,Southard-Smith E. Michelle
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Reference49 articles.
1. Chakravarti, A., McCallion, A.S. and Lyonnet, S. (2004) Hirschsprung Disease. In The Metabolic and Molecular Bases of Inherited Disease. The McGraw-Hill Companies New York, NY, Chapter 251, Vol. 2004, 1–47.
2. Amiel, J., Laudier, B., Attie-Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P., Simonneau, M. et al. (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet., 33, 459–461.
3. Badner, J.A., Sieber, W.K., Garver, K.L. and Chakravarti, A. (1990) A genetic study of Hirschsprung disease. Am. J. Hum. Genet., 46, 568–580.
4. Bolk, S., Pelet, A., Hofstra, R.M., Angrist, M., Salomon, R., Croaker, D., Buys, C.H., Lyonnet, S. and Chakravarti, A. (2000) A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc. Natl Acad. Sci. USA, 97, 268–273.
5. Carrasquillo, M.M., McCallion, A.S., Puffenberger, E.G., Kashuk, C.S., Nouri, N. and Chakravarti, A. (2002) Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat. Genet., 32, 237–244.
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