Assessment of the Deep Gray Nuclei in Holoprosencephaly

References

1. ↵
   DeMyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, nosologic, and electroencephalographic considerations. Confin Neurol 1963;23:1-36
2. DeMyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 1964;34:256-263
3. ↵
   Probst FP. The Prosencephalies: Morphology, Neuroradiological Appearances and Differential Diagnosis.. New York: Springer; 1979
4. Kobori JA, Herrick MK, Urich H. Arhinencephaly: the spectrum of associated malformations. Brain 1987;110:237-260
5. Sulik KK, Johnston MC. Embryonic origin of holoprosencephaly: interrelationship of the developing brain and face. Scan Elec Microsc 1982;260:309-322
6. Fitz CR. Holoprosencephaly and related entities. Neuroradiology 1983;25:225-238
7. ↵
   Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984–1989. 1997;73:217-226
8. ↵
   Cohen MM, Sulik KK. Perspectives on holoprosencephaly: part II. J Craniofac Genet Dev Biol 1992;12:196-244
9. Cohen MM. Perspectives on holoprosencephaly: part III. 1989;34:271-288
10. Roach E, DeMyer W, Conneally P, Palmer C, Merritt A. Holoprosencephaly: birth data, genetic and demographic analysis of 30 families. Birth Defects: Original Article Series 1975;11:294-313
11. Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996;64:465-472
12. ↵
    Barkovich AJ, Quint DJ. Middle interhemispheric fusion: an unusual variant of holoprosencephaly. AJNR Am J Neuroradiol 1993;14:431-440
13. Barkovich AJ. Pediatric Neuroimaging. 3rd ed. Philadelphia: Lippincott Williams & Wilkins;. 1999:318-324
14. ↵
    Golden JA. Towards a greater understanding of the pathogenesis of holoprosencephaly. Brain Dev 1999;21:513-521
15. ↵
    Golden J. Holoprosencephaly: a defect in brain patterning. J Neuropathol Exp Neurobiol 1998;57:991-999
16. Norman M, McGillivray B, Kalousek D, Hill A, Poskitt K. Congenital Malformations of the Brain: Pathological, Embryological, Clinical, Radiological and Genetic Aspects.. New York: Oxford University Press; 1995:187-221
17. ↵
    Briscoe J, Sussel L, Serup P, et al. Homeobox gene Nkx2.2 and specification of neuronal identity by graded Sonic hedgehog signaling. Nature 1999;398:622-627
18. ↵
    Rubenstein JL, Beachy PA. Patterning of the embryonic forebrain. Curr Opin Neurobiol 1998;8:18-26
19. ↵
    Belloni E, Muenke M, Roessler E, et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996;14:353-356
20. ↵
    Roessler E, Belloni E, Gaudenz K, et al. Mutations in Sonic hedgehog gene cause holoprosencephaly. Nat Genet 1996;14:357-360
21. ↵
    Chiang C, Litingtung Y, Lee E, et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 1996;383:407-413
22. ↵
    Golden JA, Bracilovic A, McFadded KA, et al. Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly. Proc Natl Acad Sci 1999;96:2439-2444
23. ↵
    Bulfone A, Puelles L, Porteus MH, Frohman MA, Martin GR, Rubenstein JLR. Spatially restricted expression of Dlx-1, Dlx-2 (Tes-1), Gbx-2, and Wnt-3 in the embryonic day 12.5 mouse forebrain defines potential transverse and longitudinal segmental boundaries. J Neurosci 1993;13:3155-3172
24. ↵
    Shimamura K, Hartigan DJ, Martinez S, Puelles L, Rubenstein JLR. Longitudinal organization of the anterior neural plate and neural tube. Development 1995;21:3923-3933
25. ↵
    Rubenstein JL, Shimamura K, Martinez S, Puelles L. Regionalization of the prosencephalic neural plate. Annu Rev Neurosci 1998;21:445-477
26. Puelles L, Rubenstein JLR. Expression patterns of homeobox and other putative regulatory genes in the embryonic mouse forebrain suggest a neuromeric organization. Trends Neurosci 1995;16:472-479
27. ↵
    Brown SA, Warburton D, Brown LY, et al. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 1998;20:180-183
28. ↵
    Wallis DE, Roessler E, Hehr U, et al. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 1999;22:196-198
29. ↵
    Roessler E, Muenke M. Holoprosencephaly: a paradigm for the complex genetics of brain development. J Inherit Metab Dis 1998;21:481-497