Emanuel, B.S., McDonald-McGinn, D., Saitta, S.C. & Zackai, E.H. The 22q11.2 deletion syndrome. Adv. Pediatr.48, 39–73 (2001). CASPubMed Google Scholar
Shprintzen, R.J. Velo-cardio-facial syndrome: A distinctive behavioral phenotype. Ment. Retard. Dev. Disabil. Res. Rev.6, 142–147 (2000). ArticleCASPubMed Google Scholar
Driscoll, D.A. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet. Med.3, 14–18 (2001). ArticleCASPubMed Google Scholar
Schreiber, C., Mazzitelli, D., Haehnel, J.C., Lorenz, H.P. & Meisner, H. The interrupted aortic arch: an overview after 20 years of surgical treatment. Eur. J. Cardiothorac. Surg.12, 466–469 (1997). ArticleCASPubMed Google Scholar
Jerome, L.A. & Papaioannou, V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nature Genet.27, 286–291 (2001). ArticleCASPubMed Google Scholar
Lindsay, E.A. et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature410, 97–101 (2001). ArticleCASPubMed Google Scholar
Merscher, S. et al. TBX1 is responsible for cardiovascular defects in velo-cardio- facial/DiGeorge syndrome. Cell104, 619–629 (2001). ArticleCASPubMed Google Scholar
Gong, W. et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J. Med. Genet.38, E45 (2001). ArticleCASPubMedPubMed Central Google Scholar
Vitelli, F. et al. A genetic link between Tbx1 and fibroblast growth factor signaling. Development129, 4605–4611 (2002). CASPubMed Google Scholar
Neufeld, G. et al. The neuropilins: Multifunctional semaphorin and VEGF receptors that modulate axon guidance and angiogenesis. Trends Cardiovasc. Med.12, 13–19 (2002). ArticleCASPubMed Google Scholar
Stalmans, I. et al. Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms. J. Clin. Invest.109, 327–336 (2002). ArticleCASPubMedPubMed Central Google Scholar
Carmeliet, P. et al. Impaired myocardial angiogenesis and ischemic cardiomyopathy in mice lacking the vascular endothelial growth factor isoforms VEGF164 and VEGF188. Nature Med.5, 495–502 (1999). ArticleCASPubMed Google Scholar
Shahbazi, M. et al. Vascular endothelial growth factor gene polymorphisms are associated with acute renal allograft rejection. J. Am. Soc. Nephrol.13, 260–264 (2002). CASPubMed Google Scholar
Awata, T. et al. A common polymorphism in the 5′-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes. Diabetes51, 1635–1639 (2002). ArticleCASPubMed Google Scholar
Liang, D. et al. The role of vascular endothelial growth factor (VEGF) in vasculogenesis, angiogenesis, and hematopoiesis in zebrafish development. Mech. Dev.108, 29–43 (2001). ArticleCASPubMed Google Scholar
Piotrowski, T. & Nusslein-Volhard, C. The endoderm plays an important role in patterning the segmented pharyngeal region in zebrafish (Danio rerio). Dev. Biol.225, 339–356 (2000). ArticleCASPubMed Google Scholar
Carmeliet, P. et al. Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature380, 435–439 (1996). ArticleCASPubMed Google Scholar
Kawasaki, T. et al. A requirement for neuropilin-1 in embryonic vessel formation. Development126, 4895–4902 (1999). CASPubMed Google Scholar
Creazzo, T.L., Godt, R.E., Leatherbury, L., Conway, S.J. & Kirby, M.L. Role of cardiac neural crest cells in cardiovascular development. Annu. Rev. Physiol.60, 267–286 (1998). ArticleCASPubMed Google Scholar
Srivastava, D. Genetic assembly of the heart: implications for congenital heart disease. Annu. Rev. Physiol.63, 451–469 (2001). ArticleCASPubMed Google Scholar
Robinson, H.B., Jr. DiGeorge's or the III-IV pharyngeal pouch syndrome: pathology and a theory of pathogenesis. Perspect. Pediatr. Pathol.2, 173–206 (1975). PubMed Google Scholar
Shprintzen, R.J., Morrow, B.E. & Kucherlapati, R. Vascular anomalies may explain many of the features in velo-cardio-facial syndrome. Hum. Genet.61 (suppl.) A5 (1997). Google Scholar
Mansir, T. et al. Abdominal lymphatic dysplasia and 22q11 microdeletion. Genet. Couns.10, 67–70 (1999). CASPubMed Google Scholar
Mattot, V. et al. Loss of the VEGF164 and VEGF188 isoforms impairs postnatal glomerular angiogenesis and renal branching arteriogenesis in mice. Am. J. Soc. Nephrol.13, 1548–1560 (2002). ArticleCAS Google Scholar
Maes, C. et al. Impaired angiogenesis and endochondral bone formation in mice lacking the vascular endothelial growth factor isoforms VEGF(164) and VEGF(188). Mech. Dev.111, 61–73 (2002). ArticleCASPubMed Google Scholar
Schinzel, A.A., Smith, D.W. & Miller, J.R. Monozygotic twinning and structural defects. J. Pediatr.95, 921–930 (1979). ArticleCASPubMed Google Scholar
Lu, J.H., Chung, M.Y., Hwang, B. & Chien, H.P. Monozygotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular patterning. Pediatr. Cardiol.22, 260–263 (2001). ArticleCASPubMed Google Scholar
Vincent, M.C. et al. 22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes. Genet. Couns.10, 43–49 (1999). CASPubMed Google Scholar
Ioannidis, J.P., Ntzani, E.E., Trikalinos, T.A. & Contopoulos-Ioannidis, D.G. Replication validity of genetic association studies. Nature Genet.29, 306–309 (2001). ArticleCASPubMed Google Scholar
Altshuler, D. et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet.26, 76–80 (2000). CASPubMed Google Scholar
Conway, S.J., Henderson, D.J. & Copp, A.J. Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant. Development124, 505–514 (1997). CASPubMed Google Scholar
Conway, S.J. et al. Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the splotch (Sp(2H))/Pax3 mouse mutant. Cardiovasc. Res.47, 314–328 (2000). ArticleCASPubMed Google Scholar
Garg, V. et al. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev. Biol.235, 62–73 (2001). ArticleCASPubMed Google Scholar
Terwilliger, J.D. & Ott, J. Handbook for Human Genetic Linkage (Johns Hopkins University Press, Baltimore, 1994). Google Scholar
Sham, P.C. & Curtis, D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann. Hum. Genet.59, 97–105 (1995). ArticleCASPubMed Google Scholar
Westerfield, M. The Zebrafish Book. A Guide for the Laboratory Use of Zebrafish (Danio rerio) (University of Oregon Press, Eugene, 1994). Google Scholar
Kimmel, C.B., Ballard, W.W., Kimmel, S.R., Ullmann, B. & Schilling, T.F. Stages of embryonic development of the zebrafish. Dev. Dyn.203, 253–310 (1995). ArticleCASPubMed Google Scholar
Nasevicius, A. & Ekker, S.C. Effective targeted gene 'knockdown' in zebrafish. Nature Genet.26, 216–220 (2000). CASPubMed Google Scholar
Hauptmann, G. & Gerster, T. Two-color whole-mount in situ hybridization to vertebrate and Drosophila embryos. Trends Genet.10, 266 (1994).