Tuberous sclerosis
P Curatolo, R Bombardieri, S Jozwiak - The Lancet, 2008 - thelancet.com
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …
hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver …
The tuberous sclerosis complex
PB Crino, KL Nathanson… - New England Journal of …, 2006 - Mass Medical Soc
The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
ME Tyburczy, KA Dies, J Glass, S Camposano… - PLoS …, 2015 - journals.plos.org
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene
syndrome due to germline mutations in either TSC1 or TSC2. 10–15% of TSC individuals …
syndrome due to germline mutations in either TSC1 or TSC2. 10–15% of TSC individuals …
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
SL Dabora, S Jozwiak, DN Franz, PS Roberts… - The American Journal of …, 2001 - cell.com
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in …
in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in …
The genomic landscape of tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of
benign tumours and other hamartomatous lesions, which leads to diverse and debilitating …
benign tumours and other hamartomatous lesions, which leads to diverse and debilitating …
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis
T Carsillo, A Astrinidis… - Proceedings of the …, 2000 - National Acad Sciences
Lymphangioleiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease
characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. LAM is …
characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. LAM is …
Denaturing high‐performance liquid chromatography: A review
Denaturing high‐performance liquid chromatography (DHPLC) compares two or more
chromosomes as a mixture of denatured and reannealed PCR amplicons, revealing the …
chromosomes as a mixture of denatured and reannealed PCR amplicons, revealing the …
Characterization of gliomas: from morphology to molecules
SP Ferris, JW Hofmann, DA Solomon, A Perry - Virchows Archiv, 2017 - Springer
This article reviews the histologic and molecular characterization of gliomas, including the
new “integrated diagnoses” of the World Health Organization Classification, 2016 edition …
new “integrated diagnoses” of the World Health Organization Classification, 2016 edition …
From the radiologic pathology archives: intraventricular neoplasms: radiologic-pathologic correlation
AB Smith, JG Smirniotopoulos, I Horkanyne-Szakaly - Radiographics, 2013 - pubs.rsna.org
A variety of neoplasms may arise in the ventricular system. Intraventricular neoplasms may
be discovered as an incidental finding at cross-sectional imaging or may manifest with …
be discovered as an incidental finding at cross-sectional imaging or may manifest with …
Molecular genetic advances in tuberous sclerosis
JP Cheadle, MP Reeve, JR Sampson, DJ Kwiatkowski - Human genetics, 2000 - Springer
Over the past decade, there has been considerable progress in understanding the
molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous …
molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous …