Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management
Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …
Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
[HTML][HTML] Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
H Northrup, DA Krueger, S Roberds, K Smith… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected …
findings. Disease manifestations continue to develop over the lifetime of an affected …
Neurological and neuropsychiatric aspects of tuberous sclerosis complex
P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …
TuberOus SClerosis registry to increase disease Awareness (TOSCA)–baseline data on 2093 patients
JC Kingswood, GB d'Augères, E Belousova… - Orphanet journal of rare …, 2017 - Springer
Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic
disorder. Many gaps remain in the understanding of TSC because of the complexity in …
disorder. Many gaps remain in the understanding of TSC because of the complexity in …
Diffuse cystic lung disease. Part I
N Gupta, R Vassallo… - American journal of …, 2015 - atsjournals.org
The diffuse cystic lung diseases (DCLDs) are a group of pathophysiologically heterogenous
processes that are characterized by the presence of multiple spherical or irregularly shaped …
processes that are characterized by the presence of multiple spherical or irregularly shaped …
Tuberous sclerosis: a review of the past, present, and future
SP Uysal, M Şahin - Turkish journal of medical sciences, 2020 - journals.tubitak.gov.tr
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is
characterized by cellular and tissue dysplasia in several organs. With the advent of genetic …
characterized by cellular and tissue dysplasia in several organs. With the advent of genetic …
Tuberous sclerosis: current update
MX Wang, N Segaran, S Bhalla, PJ Pickhardt… - Radiographics, 2021 - pubs.rsna.org
Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant neurocutaneous
disorder secondary to mutations in the TSC1 or TSC2 tumor suppressor genes. Although …
disorder secondary to mutations in the TSC1 or TSC2 tumor suppressor genes. Although …
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
JP Zöllner, DN Franz, C Hertzberg, R Nabbout… - Orphanet journal of rare …, 2020 - Springer
Objective This review will summarize current knowledge on the burden of illness (BOI) in
tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with …
tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with …
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family
that is common in patients with Tuberous Sclerosis Complex (TSC) and …
that is common in patients with Tuberous Sclerosis Complex (TSC) and …