The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
Abstract
SUMMARY: 32 families informative for the segregation of Tuberous sclerosis (TSC) have been examined for genetic markers on chromosomes 9, 11, 12 and 16. In one large family there was clear evidence of linkage to markers on chromosome 16p13.3 (lodscore with D16S291 of 4·7 at θ= 0) but other families were too small to give individually convincing lodscores. Combined results for all families gave positive results with ABO/DBH on chromosome 9 (max lod 2·63) and with D16S291 on chromosome 16 (max lod 3·98) at values of theta of 0·2 in each case. Further analysis showed strong evidence for heterogeneity with approximately half the families linked to a locus TSC1 on chromosome 9 between ASS and D9S298 and half to TSC2 on chromosome 16 close to D16S291. There was no definite support for a third locus although in many families this could not be excluded. In three families the segregation pattern of TSC remains unexplained. In two of these the family apparently segregates for TSC1 but in each case a single affected individual appeared to exclude the whole of the candidate region. Preliminary analysis of clinical features did not reveal any definite differences in incidence of mental handicap between individuals in different linkage groups or with different sex of the parent of origin. The frequencies of periungual fibromas and facial angiofibromas were also similar in both linkage groups. The difficulties of detecting linkage in small families where there is locus heterogeneity are discussed. The program ZZ was found to be helpful in this respect.
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Cited by
The Tuberous Sclerosis Complex
Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006) · New England Journal of Medicine · doi:10.1056/nejmra055323 · Cited by 1,793
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648
Self-citationThe tuberous sclerosis complex
Orlova, K. A., & Crino, P. B. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2009.05117.x · Cited by 401
Uhlmann, E. J., Wong, M., Baldwin, R. L., Bajenaru, M. L., Onda, H., Kwiatkowski, D. J., Yamada, K., & Gutmann, D. H. (2002) · Annals of Neurology · doi:10.1002/ana.10283 · Cited by 372
Self-citationMolecular genetic advances in tuberous sclerosis
Cheadle, J. P., Reeve, M. P., Sampson, J. R., & Kwiatkowski, D. J. (2000) · Human Genetics · doi:10.1007/s004390000348 · Cited by 349
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Metadata
- Authors
- POVEY, S., BURLEY, M. W., ATTWOOD, J., BENHAM, F., HUNT, D., JEREMIAH, S. J., FRANKLIN, D., GILLETT, G., MALAS, S., ROBSON, E. B., TIPPETT, P., EDWARDS, J. H., KWIATKOWSKI, D. J., SUPER, M., MUELLER, R., FRYER, A., CLARKE, A., WEBB, D., & OSBORNE, J.
- Venue
- Annals of Human Genetics
- Publisher
- Wiley
- Published
- 1994-05
- Volume
- 58
- Issue
- 2
- Pages
- 107-127
- ISSN
- 0003-4800 (ISSN-L)
- 1469-1809
- OpenAlex
- W1978972459
- Cited by
- 264
- References
- 1
- FWCI
- 7.47
- Type
- journal article
- Language
- en
- Open access
- closed
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- POVEY, S., BURLEY, M. W., ATTWOOD, J., BENHAM, F., HUNT, D., JEREMIAH, S. J., FRANKLIN, D., GILLETT, G., MALAS, S., ROBSON, E. B., TIPPETT, P., EDWARDS, J. H., KWIATKOWSKI, D. J., SUPER, M., MUELLER, R., FRYER, A., CLARKE, A., WEBB, D., & OSBORNE, J. (1994). Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13. Annals of Human Genetics. https://doi.org/10.1111/j.1469-1809.1994.tb01881.x
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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.
