Works matching DE "TUBEROUS sclerosis"

Results: 2335

Genetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.

Published in:

Abdominal Radiology, 2025, v. 50, n. 7, p. 3187, doi. 10.1007/s00261-024-04764-0

By:

Liu, Jiawei;
Ling, Jian;
Li, Lujie;
Wu, Yuxin;
Song, Chenyu;
Shi, Siya;
Dong, Zhi;
Wang, Jifei;
Tang, Mimi;
Feng, Shi-Ting;
Luo, Yanji;
Xu, Danyang

Publication type:

Article

Tuberous Sclerosis Complex Caused by TSC2 Inversion and Deletions Identified Using Whole-genome Sequencing: A Case Study.

Published in:

Annals of Laboratory Medicine, 2025, v. 45, n. 4, p. 463, doi. 10.3343/alm.2025.0063

By:

DongJu Yoon;
Jung Ah Kwon;
Soo-Young Yoon;
Baik-Lin Eun;
Jung Yoon

Publication type:

Article

Manifestaciones dermatológicas del complejo de esclerosis tuberosa.

Published in:

Dermatología Revista Mexicana, 2025, v. 69, n. 3, p. 324, doi. 10.24245/dermatolrevmex.v69i3.10511

By:

Velazco Muciño, Daira Ixchel;
Herrera Ocampo, Mariana;
Hernández Vera, Marcela;
Uriarte Ruíz, Karen;
Cárdenas Hernández, Miren Lorea;
Vega Memije, María Elisa

Publication type:

Article

Acute cholecystitis in tuberous sclerosis complex: is hepatic angiomyolipoma causal or incidental?—a case report.

Published in:

Egyptian Journal of Internal Medicine, 2025, v. 37, n. 1, p. 1, doi. 10.1186/s43162-025-00473-2

By:

Okafor, Love Ebenyin;
Henshaw, Eshan Blessing;
Ukweh, Ofonime Nkechinyere;
Bassey, Thelma Emmanuel;
Nwigwe, Chinwendu Evangeline;
Okonkwo, Uchenna

Publication type:

Article

Prognostic application of lesion network mapping to epilepsy surgery outcomes in pediatric tuberous sclerosis complex.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 6, p. 1854, doi. 10.1111/epi.18320

By:

Miecznikowski, Kara B.;
Greiner, Hansel M.;
Leach, James;
Rozhkov, Leonid;
Mangano, Francesco T.;
Krueger, Darcy A.;
DiFrancesco, Mark W.

Publication type:

Article

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03642-2

By:

Chambers, Nola;
Heunis, Tosca-Marie;
Gardner-Lubbe, Sugnet;
Capal, Jamie K.;
Bissell, Stacey;
Byars, Anna W.;
Cukier, Sebastián;
Davis, Peter E.;
Flinn, Jennifer;
Gipson, Tanjala T.;
Kingswood, J. Chris;
Kumm, Aubrey J.;
Schoeters, Eva;
Smith, Catherine;
Srivastava, Shoba;
Takei, Megumi;
Vanclooster, Stephanie;
van Eeghen, Agnies M.;
Waltereit, Robert;
Krueger, Darcy A.

Publication type:

Article

Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0324648

By:

van Eeghen, Agnies M.;
Thiele, Elizabeth A.;
Amin, Sam;
Samanta, Debopam;
Jansen, Anna C.;
Stevens, Joanne;
Moore-Ramdin, Lisa;
de Vries, Petrus J.

Publication type:

Article

Insights into Tuberous Sclerosis Complex : From Genes to Clinics.

Published in:

Journal of Korean Neurosurgical Society, 2025, v. 68, n. 3, p. 321, doi. 10.3340/jkns.2025.0035

By:

Kim, Soo Yeon

Publication type:

Article

Transplacental sirolimus: a new treatment strategy for life-threatening fetal cardiac rhabdomyomas—a case report.

Published in:

2025

By:

Uno, Kaname;
Nomura, Yoji;
Kawaguchi, Masahiro;
Ebina, Anna;
Imanishi, Rina;
Kawai, Satoru;
Hayakawa, Hiromi

Publication type:

Letter

Polystyrene nanoplastics trigger pyroptosis in dopaminergic neurons through TSC2/TFEB-mediated disruption of autophagosome-lysosome fusion in Parkinson's disease.

Published in:

Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06634-9

By:

Liang, Xiaomei;
Zeng, Yaqi;
Zhang, Piao;
Zhu, Baoyu;
Feng, Jiezhu;
Deng, Tongtong;
Fu, Zhongling;
Liu, Chengshuai;
Chen, Chengyu;
Zhang, Yuhu

Publication type:

Article

The Bi-steric Inhibitor RMC-5552 Reduces mTORC1 Signaling and Growth in Lymphangioleiomyomatosis.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2025, v. 72, n. 6, p. 643, doi. 10.1165/rcmb.2024-0242OC

By:

Evans, Jilly F.;
Ledwell, Owen A.;
Tang, Yan;
Rue, Ryan;
Mukhitov, Alexander R.;
Diesler, Rémi;
Lin, Susan M.;
Vanka, Kanth Swaroop;
Basil, Maria C.;
Cantu, Edward;
Henske, Elizabeth P.;
Krymskaya, Vera P.

Publication type:

Article

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project.

Published in:

Genes, 2025, v. 16, n. 5, p. 522, doi. 10.3390/genes16050522

By:

Steiner, Carlos Eduardo;
Puzzi, Maria Beatriz;
Marques-de-Faria, Antonia Paula;
de Oliveira Sobrinho, Ruy Pires;
Gil-da-Silva-Lopes, Vera Lúcia;
Moreno, Carolina Araújo

Publication type:

Article

Tuberous sclerosis complex, Serbian referral center experience.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2019, v. 76, n. 8, p. 817, doi. 10.2298/VSP170410170K

By:

Kosać, Ana;
Jović, Nebojša J

Publication type:

Article

Clonidine treatment in a tuberous sclerosis case with behavioral problems associated with mental retardation.

Published in:

2013

By:

Karayagmurlu, Ali;
Kutuk, Meryem Ozlem;
Coban, Nurdan;
Gokcen, Cem

Publication type:

Abstract

Wunderlich's Syndrome in a Tuberous Sclerosis Patient.

Published in:

2011

By:

Vaddi, Surya;
Reddy, Vedamurthy;
Devraj, Rahul

Publication type:

Report

The Clinicopathological Features of the Solitary Subependymal Giant Cell Astrocytoma: A Systematic Review.

Published in:

Neurology India, 2024, v. 72, n. 4, p. 708, doi. 10.4103/neurol-india.Neurol-India-D-23-00343

By:

Piña-Ballantyne, Steven Andrés;
Espinosa-Aguilar, Eunice Jazmín;
Calderón-Garcidueñas, Ana Laura

Publication type:

Article

Safety of Pregnancy in Ventriculoperitoneal Shunt Dependent Women: Meta-analysis and Systematic Review of the Literature.

Published in:

2020

By:

Al-Saadi, Tariq;
Glisic, Marija;
Al Sharqi, Ali;
Al Kharosi, Safiya;
Al Shaqsi, Malik;
Al Jabri, Noor;
Al Sharqi, Awahir;
Al-Saadi, Tariq Dhiyab

Publication type:

journal article

Epigenetic Regulation of mTOR Pathway in Malformations of Cortical Development.

Published in:

2019

By:

Kumar, Krishan;
Banerjee, Jyotirmoy;
Tripathi, Manjari;
Chandra, P;
Dixit, Aparna;
Chandra, P Sarat;
Dixit, Aparna B

Publication type:

journal article

Role of pyridoxine in the management of infantile spasms.

Published in:

2018

By:

Ravat, Sangeeta;
Shah, Mansi

Publication type:

Editorial

Reversible symptoms present in a patient with Balo's concentric sclerosis.

Published in:

2018

By:

Dziadkowiak, Edyta;
Zagrajek, Mieszko;
Zimny, Anna;
Paradowski, Bogusław

Publication type:

journal article

Oral Manifestations and Quality of Life in Children with Tuberous Sclerosis Complex: A Descriptive Study.

Published in:

Pediatric Dentistry, 2021, v. 43, n. 2, p. 140

By:

Gosnell, Elizabeth S.;
Krueger, Darcy;
Ruck, Patrick;
Buff-Lindner, Amanda Haley;
Horn, Paul S.;
Griffith, Molly

Publication type:

Article

Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.

Published in:

2025

By:

Nguyen, Anthony V.;
Berger, Blaine H.;
Abdullaev, Zied;
Gearhart, Samuel;
Castro-Echeverry, Eduardo;
Aldape, Kenneth;
Trumble, Eric;
Lehman, Norman L.

Publication type:

Case Study

Cardiac Rhabdomyomas Presenting with Critical Cardiac Obstruction in Neonates and Infants: Treatment Strategies and Outcome, A Single-Center Experience.

Published in:

Pediatric Cardiology, 2024, v. 45, n. 5, p. 1132, doi. 10.1007/s00246-024-03420-0

By:

Ng, Li Yen;
McGuinness, Jonathan;
Prendiville, Terence;
Franklin, Orla;
Walsh, Mark;
Kenny, Damien;
Nolke, Lars;
McMahon, Colin J.

Publication type:

Article

Endovascular Repair of a Descending Thoracic Aortic Aneurysm in a Pediatric Patient with Tuberous Sclerosis: A Case Report and Review of the Literature.

Published in:

2022

By:

Byrne, Ryan D.;
Lahiri, Subhrajit;
Bansal, Manish;
Jacob, Benjamin;
Stapleton, Gary

Publication type:

Case Study

Large deletions in the polycystic kidney disease 1 (PKD1) gene (Communicated by Martin Bobrow) Online Citation: Human Mutation, Mutation in Brief #679 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/679.pdf).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9208

By:

Yavuz Ariyurek;
Irma Lantinga-van Leeuwen;
Lia Spruit;
David Ravine;
Martijn H. Breuning;
Dorien J.M. Peters

Publication type:

Article

Cytoplasmic/nuclear localization of tuberin in different cell lines.

Published in:

Amino Acids, 2007, v. 33, n. 4, p. 575, doi. 10.1007/s00726-007-0541-0

By:

M. Rosner;
M. HengstschlÃ¤ger

Publication type:

Article

The Efficacy of Everolimus for Facial Angiofibromas in Tuberous Sclerosis Complex Patients Treated for Renal Angiomyolipoma/Subependymal Giant Cell Astrocytoma.

Published in:

2021

By:

Wei, Chang-Ching;
Hsiao, Yu-Ping;
Gau, Shuo-Yan;
Wu, Yue-Ting;
Wu, Chi-Tang;
Wu, Meng-Hsuan;
Tsai, Jeng-Dau

Publication type:

journal article

Immunohistochemical Analysis of mTOR Pathway-Related Proteins in Kaposiform Hemangioendothelioma.

Published in:

2020

By:

Wang, Zuopeng;
Zheng, Chao;
Sun, Hongqiang;
Yao, Wei;
Li, Kai;
Ma, Yangyang;
Zheng, Shan

Publication type:

journal article

Comparative Effects of Topical 0.2% Sirolimus for Angiofibromas in Adults and Pediatric Patients with Tuberous Sclerosis Complex.

Published in:

2018

By:

Lee, Young In;
Lee, Ju Hee;
Kim, Do Young;
Chung, Kee Yang;
Shin, Jung U.;
Lee, Young In;
Lee, Ju Hee;
Kim, Do Young;
Chung, Kee Yang;
Shin, Jung U

Publication type:

journal article

Endovascular Treatment and Follow-up of Retroperitoneal Hemorrhage Caused by Bilateral Giant Renal Angiomyolipoma.

Published in:

Bulletin of Urooncology, 2023, v. 22, n. 2, p. 84, doi. 10.4274/uob.galenos.2023.2023.3.2

By:

Durak, Hüseyin Mert;
Ekenci, Berk Yasin;
Sarı, Hilmi;
Ergun, Onur;
Şahinli, Hayriye;
Karakoyunlu, Ahmet Nihat

Publication type:

Article

Radiosensitivity in individuals with tuberous sclerosis complex.

Published in:

Discover Oncology, 2024, v. 15, n. 1, p. 1, doi. 10.1007/s12672-024-01395-1

By:

Kuhlmann, Lukas;
Stritzelberger, Jenny;
Fietkau, Rainer;
Distel, Luitpold V.;
Hamer, Hajo M.

Publication type:

Article

News and notes.

Published in:: Medical Teacher, 1995, v. 17, n. 1, p. 98, doi. 10.3109/01421599509008295
Publication type:: Article

Challenges in the Management of Tuberous Sclerosis-associated Neuropsychiatric Disorders.

Published in:

2025

By:

Gupta, Parul;
Spoorthy, Mamidipalli Sai;
Raikar, Pooja R

Publication type:

Case Study

Pancreatic Neuroendocrine Tumor in a Young Child With Tuberous Sclerosis Complex 1.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 6, p. 1201, doi. 10.1210/js.2019-00051

By:

Mehta, Shilpa;
Rusyn, Larisa;
Ginsburg, Howard;
Hajdu, Cristina;
Kohn, Brenda

Publication type:

Article

Contractile and Genetic Characterization of Cardiac Constructs Engineered from Human Induced Pluripotent Stem Cells: Modeling of Tuberous Sclerosis Complex and the Effects of Rapamycin.

Published in:

Bioengineering (Basel), 2024, v. 11, n. 3, p. 234, doi. 10.3390/bioengineering11030234

By:

Sidorov, Veniamin Y.;
Sidorova, Tatiana N.;
Samson, Philip C.;
Reiserer, Ronald S.;
Britt, Clayton M.;
Neely, M. Diana;
Ess, Kevin C.;
Wikswo, John P.

Publication type:

Article

Recognizing Pediatric Tuberous Sclerosis Complex Based on Multi-Contrast MRI and Deep Weighted Fusion Network.

Published in:

Bioengineering (Basel), 2023, v. 10, n. 7, p. 870, doi. 10.3390/bioengineering10070870

By:

Jiang, Dian;
Liao, Jianxiang;
Zhao, Cailei;
Zhao, Xia;
Lin, Rongbo;
Yang, Jun;
Li, Zhichen;
Zhou, Yihang;
Zhu, Yanjie;
Liang, Dong;
Hu, Zhanqi;
Wang, Haifeng

Publication type:

Article

Harnessing Parent–Child Interaction Therapy for the Behavioral Treatment of a Child with Tuberous Sclerosis Complex and Autism Spectrum Disorder.

Published in:

Evidence-Based Practice in Child & Adolescent Mental Health, 2023, v. 8, n. 3, p. 376, doi. 10.1080/23794925.2022.2127134

By:

Peskin, Abigail;
Rothenberg, W. Andrew;
Jent, Jason F.

Publication type:

Article

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 788, doi. 10.3390/jcm8060788

By:

Moavero, Romina;
Benvenuto, Arianna;
Emberti Gialloreti, Leonardo;
Siracusano, Martina;
Kotulska, Katarzyna;
Weschke, Bernhard;
Riney, Kate;
Jansen, Floor E.;
Feucht, Martha;
Krsek, Pavel;
Nabbout, Rima;
Jansen, Anna C.;
Wojdan, Konrad;
Borkowska, Julita;
Sadowski, Krzystof;
Hertzberg, Christoph;
Hulshof, Hanna;
Samueli, Sharon;
Benova, Barbora;
Aronica, Eleonora

Publication type:

Article

A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.

Published in:

Journal of Neurogenetics, 2016, v. 30, n. 3/4, p. 285, doi. 10.1080/01677063.2016.1242585

By:

Li, Wenzao;
Zhou, Peng;
Zhao, Congmin;
Zhang, Yuping

Publication type:

Article

Anaesthesia recommendations for Tuberous sclerosis complex.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. 1, doi. 10.19224/ai2022.S378

By:

Cuesta-González-Tascón, Claudia;
Kretz, Franz Josef;
Sauter, Matthias

Publication type:

Article

OrphanAnesthesia -- a project of the Scientific Working Group of Paediatric Anaesthesia of the German Society of Anaesthesiology and Intensive Care Medicine.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 12, p. S377

By:

Münster, Tino

Publication type:

Article

Renal epithelioid angiomyolipoma in a patient with tuberous sclerosis.

Published in:

2017

By:

Arachchi, Asiri;
Tey, Jing Yuan Joshua;
Makris, Antonios;
Ruljancich, Paul

Publication type:

Other

Renal cell carcinoma in tuberous sclerosis.

Published in:

ANZ Journal of Surgery, 2012, v. 82, n. 3, p. 186, doi. 10.1111/j.1445-2197.2011.05983.x

By:

Rajaian, Shanmugasundaram;
Kekre, Nitin Sudhakar

Publication type:

Article

Unilateral shortening of third metacarpal bone in a patient with tuberous sclerosis.

Published in:

European Journal of Rheumatology, 2019, v. 6, n. 1, p. 60, doi. 10.5152/eurjrheum.2018.18062

By:

Azami, Ahad;
Habibzadeh, Afshin

Publication type:

Article

Tuberous Sclerosis Complex – a Multidisciplinary Conundrum: Case Reports.

Published in:

Medicina Moderna, 2020, v. 27, n. 2, p. 113, doi. 10.31689/rmm.2020.27.2.113

By:

LEFTER, Antonia;
TULBA, Delia;
MITU, Cristina;
DANAU, Adela;
OLARU, Iulia;
NESTOR, Daniela;
POPESCU, Bogdan Ovidiu

Publication type:

Article

Klinik, Genetik, Histopatolojik ve Dermoskopik Bulguları ile Bilateral Yüz Yerleşimli İzole Multipl Kutanöz Anjiyofibrom Olgusu.

Published in:

2024

By:

ÇETİNARSLAN, Tubanur;
ÜSTÜNTAŞ, Raşit;
ALTINER, Şule;
TÜREL ERMERTCAN, Aylin;
TEMİZ, Peyker;
ŞAHİN, Mustafa Turhan

Publication type:

Case Study

Importancia del uso de la genómica en el diagnóstico precoz de la esclerosis tuberosa, reporte de caso.

Published in:

Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2022, v. 1, n. 34, p. 29, doi. 10.47499/revistaaccb.v1i34.260

By:

Lambraño A., Adriana Sarit;
Moreno G., Lina Johanna

Publication type:

Article

Anesthetic management of a parturient with tuberous sclerosis for emergency cesarean section- a case report.

Published in:

Ain Shams Journal of Anesthesiology, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s42077-023-00336-4

By:

Yadav, Nitu;
Kumar, Amit;
Arora, Vandna;
Sharma, Pragya;
Arora, Rashmi;
Singhal, Suresh K.

Publication type:

Article

Seizure reduction in TSC2‐mutant mouse model by an mTOR catalytic inhibitor.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1790, doi. 10.1002/acn3.51868

By:

Dhamne, Sameer C.;
Modi, Meera E.;
Gray, Audrey;
Bonazzi, Simone;
Craig, Lucas;
Bainbridge, Elizabeth;
Lalani, Lahin;
Super, Chloe E.;
Schaeffer, Samantha;
Capre, Ketthsy;
Lubicka, Danuta;
Liang, Guiqing;
Burdette, Doug;
McTighe, Stephanie M.;
Gurnani, Sarika;
Vermudez, Sheryl Anne D.;
Curtis, Daniel;
Wilson, Christopher J.;
Hameed, Mustafa Q.;
D'Amore, Angelica

Publication type:

Article

Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2052, doi. 10.1002/acn3.51162

By:

Tabarestani, Sepideh;
Varriano, Brenda;
Rawal, Sapna;
France Morel, Chantal;
Carmela Tartaglia, Maria;
Andrade, Danielle M.

Publication type:

Article