The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Holoprosencephaly: A paradigm for the complex genetics of brain development
Abstract
Holoprosencephaly (HPE) is the most common major developmental defect of the forebrain in humans. Clinical expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial HPE. Significant aetiological heterogeneity exists in HPE and includes both genetic and environmental causes. Recently, defects in the cell signalling pathway involving the Sonic Hedgehog (SHH) gene, as well as defects in the cholesterol biosynthesis, have been shown to cause HPE in humans. These discoveries and current genetic approaches serve as a paradigm for studying normal and abnormal brain morphogenesis.
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Cites
Dickkopf-1 is a member of a new family of secreted proteins and functions in head induction
Glinka, A., Wu, W., Delius, H., Monaghan, A. P., Blumenstock, C., & Niehrs, C. (1998) · Nature · doi:10.1038/34848 · Cited by 1,608
Bitgood, M. J., & McMahon, A. P. (1995) · Developmental Biology · doi:10.1006/dbio.1995.0010 · Cited by 1,370
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
Self-citationDefective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
A newly recognized syndromeof multiple congenital anomalies
Smith, D. W., Lemli, L., & Opitz, J. M. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80264-x · Cited by 650
Lee, J. J., von Kessler, D. P., Parks, S., & Beachy, P. A. (1992) · Cell · doi:10.1016/0092-8674(92)90264-d · Cited by 581
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
Irons, M., Roy Elias, E., Salen, G., Tint, G. S., & Batta, A. (1993) · The Lancet · doi:10.1016/0140-6736(93)90983-n · Cited by 368
Cited by
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
Self-citationDubourg, 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
Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly
Ming, J. E., & Muenke, M. (2002) · The American Journal of Human Genetics · doi:10.1086/344412 · Cited by 313
Self-citationGenetics of ventral forebrain development and holoprosencephaly
Muenke, M. (2000) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(00)00084-8 · Cited by 266
Self-citationThe 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
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Metadata
- Authors
- Roessler, E., & Muenke, M.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1998-08
- Volume
- 21
- Issue
- 5
- Pages
- 481-497
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W207245508
- Cited by
- 176
- References
- 7
- FWCI
- 17.14
- Type
- journal article
- Language
- en
- Open access
- closed
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- Roessler, E., & Muenke, M. (1998). Holoprosencephaly: A paradigm for the complex genetics of brain development. Journal of Inherited Metabolic Disease. https://doi.org/10.1023/a%3A1005406719292
Data sources
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.
