TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
出版年份 2017 全文链接
标题
TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
作者
关键词
-
出版物
GENETICS AND MOLECULAR BIOLOGY
Volume 40, Issue 1, Pages 69-79
出版商
FapUNIFESP (SciELO)
发表日期
2017-02-20
DOI
10.1590/1678-4685-gmb-2015-0321
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Severity of manifestations in tuberous sclerosis complex in relation to genotype
- (2014) Sanjeev V. Kothare et al. EPILEPSIA
- Case Report Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex
- (2014) C.R. Mi et al. GENETICS AND MOLECULAR RESEARCH
- Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome
- (2014) Nur Farrah Dila Ismail et al. JAPANESE JOURNAL OF CLINICAL ONCOLOGY
- Arachnoid cysts in tuberous sclerosis complex
- (2013) Susana Boronat et al. BRAIN & DEVELOPMENT
- Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
- (2013) Hope Northrup et al. PEDIATRIC NEUROLOGY
- Central TSC2 missense mutations are associated with a reduced risk of infantile spasms
- (2012) Agnies M. van Eeghen et al. EPILEPSY RESEARCH
- Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex
- (2012) Furen Zhang et al. Indian Journal of Dermatology Venereology & Leprology
- Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings
- (2012) Mary E. Aronow et al. OPHTHALMOLOGY
- Identification of TSC1 and TSC2 Mutations in Korean Patients With Tuberous Sclerosis Complex
- (2012) Mi-Ae Jang et al. PEDIATRIC NEUROLOGY
- Conservation of Structural and Functional Elements of TSC1 and TSC2: A Bioinformatic Comparison Across Animal Models
- (2011) Jaco Serfontein et al. BEHAVIOR GENETICS
- Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events
- (2010) Wei Qin et al. BRAIN PATHOLOGY
- MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY
- (2010) David W. Webb et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation
- (2010) M. Blyth et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Tuberous Sclerosis Complex Renal Disease
- (2010) Bradley P. Dixon et al. NEPHRON EXPERIMENTAL NEPHROLOGY
- Focal cortical dysplasia: A genotype-phenotype analysis of polymorphisms and mutations in the TSC genes
- (2009) Christoph Gumbinger et al. EPILEPSIA
- Three independent mutations in the TSC2 gene in a family with tuberous sclerosis
- (2009) Cédric Le Caignec et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex
- (2009) D A Muzykewicz et al. JOURNAL OF MEDICAL GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started