Genetic tumor syndromes of the head and neck: Update in the genomic era
S Brahmbhatt, A Agarwal, D Shetty… - The Neuroradiology …, 2024 - journals.sagepub.com
Genetic tumor syndromes are due to inherited genetic mutations, which have recently come
to the attention of clinicians due to the widespread adoption of DNA sequencing, ultimately …
to the attention of clinicians due to the widespread adoption of DNA sequencing, ultimately …
Cardiac self-limiting rhabdomyomas in a neonatal patient with tuberous sclerosis complex: a case report with negative genetic testing
H Zhou, Z Zheng, Z Tu, Y Li, J Yang, C Fan - Frontiers in Pediatrics, 2023 - frontiersin.org
Background Tuberous Sclerosis Complex (TSC) is a hereditary condition that leads to the
development of non-malignant neoplasms in various organs, including cardiac …
development of non-malignant neoplasms in various organs, including cardiac …
De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report
A Triono, ES Herini, K Iskandar… - Annals of Medicine …, 2023 - journals.lww.com
Conclusions: The neuropsychiatric phenotype and genotype in TSC patients are rarely
reported and evaluated. We reported a female child with epilepsy, borderline intellectual …
reported and evaluated. We reported a female child with epilepsy, borderline intellectual …
实时三维经胸超声心动图诊断儿童心脏横纹肌瘤的临床价值
牛海燕, 宋青, 李喆, 李姗珊 - 发育医学电子杂志, 2023 - fyyxzz.com
摘要[摘要] 目的探讨实时三维经胸超声心动图(real-time three-dimensional transthoracic
echocardiography, RT-3D-TTE) 诊断儿童心脏横纹肌瘤的临床价值. 方法2016 年3 月至2022 …
echocardiography, RT-3D-TTE) 诊断儿童心脏横纹肌瘤的临床价值. 方法2016 年3 月至2022 …
[HTML][HTML] Наследственные онкологические синдромы с повышенным риском развития рака почки
ДС Михайленко, НА Горбань, ДВ Залетаев - Онкоурология, 2023 - cyberleninka.ru
Рак почки (РП)–одно из 3 частых онкоурологических заболеваний, своевременная
диагностика и прогноз которого остаются актуальными задачами. Часть случаев РП …
диагностика и прогноз которого остаются актуальными задачами. Часть случаев РП …
Late diagnosis of tuberous sclerosis complex in a 40-year-old female presenting with abdominal pain: a case report
S Aryal, S Sharma, S Aryal… - Annals of Medicine and …, 2023 - journals.lww.com
Tuberous sclerosis (TS) is a rare autosomal-dominant neurocutaneous disorder that is
characterized by hamartomas affecting a variety of organs, including the brain, heart …
characterized by hamartomas affecting a variety of organs, including the brain, heart …
Targeting neuroinflammation in mTORC1 driven brain tumours
D McPhail - 2023 - orca.cardiff.ac.uk
Tuberous sclerosis complex (TSC) is a rare genetic disease that results in the system-wide
growth of benign lesions. TSC patients often present with brain tumours and TSC-associated …
growth of benign lesions. TSC patients often present with brain tumours and TSC-associated …
Atuação fisioterapêutica na esclerose tuberosa associada a linfangioleiomiomatose
CF de Almeida, JH Genske, F da Silva Tori… - Research, Society and …, 2022 - rsdjournal.org
Tuberous sclerosis is a rare disease, of genetic and degenerative character, where there are
anomalies in the TSC1 or TSC2 genes, of chromosomes 9 and 16. Secondary to the …
anomalies in the TSC1 or TSC2 genes, of chromosomes 9 and 16. Secondary to the …