Tuberous sclerosis complex: disease modifiers and treatments
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Pediatrics, Perinatology, and Child Health
Reference40 articles.
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2. Genotype and psychological phenotype in tuberous sclerosis;Lewis;J Med Genet,2004
3. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs;Dabora;Am J Hum Genet,2001
4. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex;Sancak;Eur J Hum Genet,2005
5. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States;Au;Genet Med,2007
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1. Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex;American Journal of Medical Genetics Part A;2024-02-17
2. Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing;Genes;2021-09-10
3. Tuberous sclerosis: a review of the past, present, and future;TURKISH JOURNAL OF MEDICAL SCIENCES;2020-11-03
4. A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family;BMC Medical Genetics;2018-05-30
5. Phenotypic Variability and mTOR Pathway Gene Aberrations in Familial Tuberous Sclerosis;Journal of Pediatric Neurology;2017-05-22
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