The DOI matches its Crossref record; 146 of the 146 references it cites were found in a registry or an index.
Hirschsprung disease, associated syndromes and genetics: a review
Open accessAbstract
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.
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The bowel and beyond: The enteric nervous system in neurological disorders
Rao, M., & Gershon, M. D. (2016) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2016.107 · Cited by 629
Heanue, T. A., & Pachnis, V. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2137 · Cited by 527
Voices from within: gut microbes and the CNS
Forsythe, P., & Kunze, W. A. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-012-1028-z · Cited by 336
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The quantitative nature of autistic social impairment
CONSTANTINO, J. N. (2011) · Pediatric Research · doi:10.1203/pdr.0b013e318212ec6e · Cited by 282
Metadata
- Authors
- Amiel, J., Sproat-Emison, E., Garcia-Barcelo, M., Lantieri, F., Burzynski, G., Borrego, S., Pelet, A., Arnold, S., Miao, X., Griseri, P., Brooks, A. S., Antinolo, G., de Pontual, L., Clement-Ziza, M., Munnich, A., Kashuk, C., West, K., Wong, K. K.-Y., Lyonnet, S., Chakravarti, A., Tam, P. K.-H., Ceccherini, I., Hofstra, R. M. W., Fernandez, R., & for the Hirschsprung Disease Consortium
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2007-10-26
- Volume
- 45
- Issue
- 1
- Pages
- 1-14
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2130583261
- Cited by
- 1,206
- References
- 146
- FWCI
- 54.12
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Amiel, J., Sproat-Emison, E., Garcia-Barcelo, M., Lantieri, F., Burzynski, G., Borrego, S., Pelet, A., Arnold, S., Miao, X., Griseri, P., Brooks, A. S., Antinolo, G., de Pontual, L., Clement-Ziza, M., Munnich, A., Kashuk, C., West, K., Wong, K. K.-Y., Lyonnet, S., . . . for the Hirschsprung Disease Consortium. (2008). Hirschsprung disease, associated syndromes and genetics: a review. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2007.053959
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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.
