Associated Papers
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.
Praticò AD et al.
Scientific Reports, 2025
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P et al.
The Journal of Pathology. Clinical Research, 2023
36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_33
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.
Bykhovskaya Y et al.
Investigative Ophthalmology & Visual Science, 2017
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015
25782670 (PubMed )
Supplement: ejhg201547x1.xls › details
Sturge Weber-Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1.
Chatterjee S et al.
Journal of Child Neurology, 2015
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM et al.
Annals of Human Genetics, 1998
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