The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities
Abstract
This paper attempts to balance our knowledge of holoprosencephalic spectra and continuities with important distinctions and discontinuities. Prevalence studies and syndrome delineation are briefly reviewed. The following topics receive detailed coverage: human teratogens, special aspects of forebrain and hindbrain malformations, aprosencephaly/atelencephaly, association with neural tube defects, current assessment of “facial principles,” and endocrine abnormalities.
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Citations
Cites
Lammer, E. J., Chen, D. T., Hoar, R. M., Agnish, N. D., Benke, P. J., Braun, J. T., Curry, C. J., Fernhoff, P. M., Grix, A. W., Lott, I. T., et al. (1985) · New England Journal of Medicine · doi:10.1056/nejm198510033131401 · Cited by 1,942
Cited by
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer, S. W., Tsui, L.-C., & Muenke, M. (1996) · Nature Genetics · doi:10.1038/ng1196-357 · Cited by 1,152
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Wallis, D. E., Roessler, E., Hehr, U., Nanni, L., Wiltshire, T., Richieri-Costa, A., Gillessen-Kaesbach, G., Zackai, E. H., Rommens, J., & Muenke, M. (1999) · Nature Genetics · doi:10.1038/9718 · Cited by 431
Dubourg, C., Bendavid, C., Pasquier, L., Henry, C., Odent, S., & David, V. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-8 · Cited by 351
The molecular genetics of holoprosencephaly
Roessler, E., & Muenke, M. (2010) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30236 · Cited by 255
MRI and 1H MRS findings in Smith-lemli-opitz syndrome
Caruso, P. A., Poussaint, T. Y., Tzika, A. A., Zurakowski, D., Astrakas, L. G., Elias, E. R., Bay, C., & Irons, M. B. (2004) · Neuroradiology · doi:10.1007/s00234-003-1110-1 · Cited by 51
Metadata
- Authors
- Cohen, M. M.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1989-10
- Volume
- 34
- Issue
- 2
- Pages
- 271-288
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2143317087
- Cited by
- 220
- References
- 1
- FWCI
- 9.62
- Type
- journal article
- Language
- en
- Open access
- closed
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- Cohen, M. M. (1989). Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320340232
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
