The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
The Tuberous Sclerosis Complex
Abstract
Tuberous sclerosis (TS) is an autosomal dominant disordercharacterized mainly by mental retardation, epilepsy and adenoma sebasemiatriad. All triads can be detected in only one third of the patients. Tuberoussclerosis complex (TSC) is a hamartomatosis that mainly carries the centralnervous system, skin, retina, kidney and heart. Pathologies associated withrenal involvement in patients with tuberous sclerosis; angiomyolipomas(70-80%), renal cysts (20%) and very rarely cancers. The most common neurologicalfinding is epileptic seizures In this article, we present a case report of a patient who appliedto dermatological clinic with acne compleints and diagnosed as a tuberoussclerosis complex with skin findings, cortical tuber and angiomyolipoma inaddition to radiological examinations.
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“Our findings suggest that rapamycin may be able to ameliorate putative developmental deficits, potentially contributing to the profound cognitive abnormalities present in a subset of individuals with tuberous sclerosis”
From Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis (2008) · cites this paper as [4]
In the citing paper
“Even individuals with tuberous sclerosis and a normal intelligence quotient (approximately 50%)[3](#R3)–[5](#R5) are commonly affected with specific neuropsychological problems, including long-term and working memory deficits[6](#R6),[7](#R7).”
From Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis (2008) · cites this paper as [4]
In the citing paper
“The distribution of intelligence quotient (IQ) scores of individuals with tuberous sclerosis indicates the existence of two distinct subpopulations[3](#R3),[4](#R4): a profoundly impaired group with severe mental retardation (30%) and a group with normally distributed IQs with a slight reduction in mean IQ (70%).”
From Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis (2008) · cites this paper as [4]
Citations
Cites
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
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
Tavazoie, S. F., Alvarez, V. A., Ridenour, D. A., Kwiatkowski, D. J., & Sabatini, B. L. (2005) · Nature Neuroscience · doi:10.1038/nn1566 · Cited by 497
Research works printed but not linked: 13
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Cited by
Sorted by citations
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
Ehninger, D., Han, S., Shilyansky, C., Zhou, Y., Li, W., Kwiatkowski, D. J., Ramesh, V., & Silva, A. J. (2008) · Nature Medicine · doi:10.1038/nm1788 · Cited by 882
Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist
de Vries, P. J., Whittemore, V. H., Leclezio, L., Byars, A. W., Dunn, D., Ess, K. C., Hook, D., King, B. H., Sahin, M., & Jansen, A. (2015) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.10.004 · Cited by 371
Ehninger, D., De Vries, P. J., & Silva, A. J. (2009) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2009.01208.x · Cited by 120
Metadata
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2007-01-04
- Volume
- 356
- Issue
- 1
- Pages
- 92-94
- ISSN
- 0028-4793
- 1533-4406
- Cited by
- 41
- References
- 2
- Language
- en
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