Works matching Tuberous sclerosis

Results: 4382

Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management.

Published in:

Wiener Klinische Wochenschrift, 2015, v. 127, n. 15/16, p. 619, doi. 10.1007/s00508-015-0758-y

By:

Samueli, Sharon;
Abraham, Klaus;
Dressler, Anastasia;
Groeppel, Gudrun;
Jonak, Constanze;
Muehlebner, Angelika;
Prayer, Daniela;
Reitner, Andreas;
Feucht, Martha

Publication type:

Article

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis.

Published in:

2021

By:

Al Kindi, Hamood N.;
Ibrahim, Ayman M.;
Roshdy, Mohamed;
Abdelghany, Besra S.;
Yehia, Dina;
Masoud, Ahmed Nageeb;
Simry, Walid;
Aguib, Yasmine;
Yacoub, Magdi H.

Publication type:

journal article

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

Progress on genetics, diagnosis and treatment of tuberous sclerosis complex.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 6, p. 385, doi. 10.3969/j.issn.1672-6731.2018.06.002

By:

DENG Jie;
WANG Xu

Publication type:

Article

Comprehensive analysis of gene mutation and phenotype of tuberous sclerosis complex in China.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 4, p. 322, doi. 10.3969/j.issn.1672-6731.2015.04.013

By:

HUANG Guo-qiang;
ZHAI Qiong-xiang;
TANG Zhi-hong;
WANG Chun;
ZHUO Mu-qing;
WANG Lin-gan

Publication type:

Article

Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 4, p. 1465, doi. 10.1007/s00431-021-04333-3

By:

Vargiami, Efthymia;
Stabouli, Stella;
Sidira, Christina;
Kyriazi, Maria;
Anastasiou, Athanasia;
Notopoulos, Athanasios;
Zafeiriou, Dimitrios

Publication type:

Article

Treatment effect of mTOR-inhibition on tissue composition of renal angiomyolipomas in tuberous sclerosis complex (TSC).

Published in:

PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189132

By:

Brakemeier, Susanne;
Vogt, Lars;
Adams, Lisa;
Zukunft, Bianca;
Diederichs, Gerd;
Hamm, Bernd;
Budde, Klemens;
Makowski, Marcus R.

Publication type:

Article

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Published in:

PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185713

By:

Bandeira, Isabel Cristina;
Correia, Rudinei Luis;
Rosset, Clévia;
Ashton-Prolla, Patricia;
Achatz, Maria Isabel;
Netto, Cristina Brinckmann Oliveira;
Vairo, Filippo;
de Goes, Fernanda Veiga;
da Silva, Raquel Tavares Boy;
Bueno, Larissa Souza Mario;
de Miranda Gomes, Mireille Caroline Silva;
Galvão, Henrique de Campos Reis;
Neri, João I. C. F.

Publication type:

Article

TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex.

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.630378

By:

Kingswood, J. Chris;
Belousova, Elena;
Benedik, Mirjana P.;
Budde, Klemens;
Carter, Tom;
Cottin, Vincent;
Curatolo, Paolo;
Dahlin, Maria;
D'Amato, Lisa;
d'Augères, Guillaume B.;
de Vries, Petrus J.;
Ferreira, José C.;
Feucht, Martha;
Fladrowski, Carla;
Hertzberg, Christoph;
Jozwiak, Sergiusz;
Lawson, John A.;
Macaya, Alfons;
Marques, Ruben;
Nabbout, Rima

Publication type:

Article

Maternal and Fetal Tuberous Sclerosis: Do We Know Enough as an Obstetrician?

Published in:

Journal of Reproduction & Infertility, 2017, v. 18, n. 2, p. 257

By:

Sharma, Nalini;
Sharma, Shriram;
Thiek, Jion Lalnunnem;
Ahanthem, Santa Singh;
Kalita, Arnab;
Lynser, Donboklang

Publication type:

Article

Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study.

Published in:

Psychological Medicine, 2015, v. 45, n. 11, p. 2321, doi. 10.1017/S0033291715000264

By:

Bolton, P. F.;
Clifford, M.;
Tye, C.;
Maclean, C.;
Humphrey, A.;
le Maréchal, K.;
Higgins, J. N. P.;
Neville, B. G. R.;
Rijsdjik, F.;
Yates, J. R. W.

Publication type:

Article

Exploring Cardiovascular Involvement in Tuberous Sclerosis: Insights for Pediatric Clinicians.

Published in:

Children, 2024, v. 11, n. 6, p. 674, doi. 10.3390/children11060674

By:

Lazea, Cecilia;
Țaranu, Ioana;
Bolboacă, Sorana D.

Publication type:

Article

Cardiac manifestations in tuberous sclerosis: a 10-year review.

Published in:

1998

By:

Quek, S. C.;
Yip, W.;
Quek, S. T.;
Chang, S. K.;
Wong, M. L.;
Low, P. S.

Publication type:

journal article

The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial.

Published in:

2016

By:

Randell, Elizabeth;
McNamara, Rachel;
Davies, D. Mark;
Owen-Jones, Eleri;
Kirby, Nigel;
Angel, Lianna;
Drew, Cheney;
Cannings-John, Rebecca;
Smalley, Michelle;
Saxena, Anurag;
McDermott, Emer;
Stockwell, Laura;
de Vries, Petrus J.;
Hood, Kerry;
Sampson, Julian R.

Publication type:

journal article

Tuberous sclerosis complex; single center experience.

Published in:

Türk Pediatri Arşivi, 2015, v. 50, n. 1, p. 51, doi. 10.5152/tpa.2015.2138

By:

Erol, İlknur;
Savaş, Tülin;
Şekerci, Sevda;
Yazıcı, Nalan;
Erbay, Ayşe;
Demir, Şenay;
Saygı, Semra;
Alkan, Özlem

Publication type:

Article

Odontogenic myxoma in an adolescent with tuberous sclerosis.

Published in:

1997

By:

Harrison, M. G.;
O'Neill, D.;
Chadwick, B. L.;
O'Neill, I D

Publication type:

journal 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

Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients.

Published in:

Iranian Journal of Child Neurology, 2012, v. 6, n. 3, p. 25

By:

Hassan Tonekaboni, Seyyed;
Tousi, Parviz;
Ebrahimi, Ahmad;
Ahmadabadi, Farzad;
Keyhanidoust, Zarrintaj;
Zamani, Gholamreza;
Rezvani, Morteza;
Amirsalari, Susan;
Tavassoli, Azita;
Rounagh, Alireza;
Rezayi, Alireza

Publication type:

Article

A Rare Occurrence of Shagreen Patch on the Face of a Pediatric Patient with Tuberous Sclerosis.

Published in:

2012

By:

RAVI, Ambey;
VEERABHADRA, Doddamani;
RICHA, Gupta;
NGANGBAM, Sonamani

Publication type:

Case Study

Everolimus treatment in a 3-month-old infant with tuberous sclerosis complex cardiac rhabdomyoma, severe left ventricular outflow tract obstruction, and hearing loss.

Published in:

2021

By:

Çetin, Mecnun;
Aydın, Aysun A.;
Karaman, Kamuran

Publication type:

journal article

Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial.

Published in:

2020

By:

Stelmaszewski, Erica V.;
Parente, Daniella B.;
Farina, Alberto;
Stein, Anna;
Gutierrez, Anthony;
Raquelo-Menegassio, Antonio F.;
Manterola, Carla;
de Sousa, Carolina F.;
Victor, Carolina;
Maki, Dina;
Morón, Elias M.;
de Abrantes, Fabiano F.;
Iqbal, Fatima;
Camacho-Vilchez, Jazmin;
Jimenez-Pavón, Joanna;
Polania, Juan P.;
Thompson, Lorenzo;
Bonanato, Lygia;
Diebold, Matthias;
Da Silva, Maria V. C. P.

Publication type:

journal article

Tuberous sclerosis complex-associated neuropsychiatric disorders.

Published in:

Psychiatria Polska, 2023, v. 57, n. 4, p. 1, doi. 10.12740/PP/OnlineFirst/146265

By:

Marcinkowska, Anna B.;
Tarasewicz, Agnieszka;
Jóźwiak, Sergiusz;
Dębska-Ślizień, Alicja;
Szurowska, Edyta

Publication type:

Article

TuberOus SClerosis Registry to Increase Disease Awareness: A Review on Alignment of Its Planning, Execution, and Publications With European Medicines Agency Guidelines.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00365

By:

Marques, Ruben;
Thole, Henriette;
Ruiz de Morales, José G.

Publication type:

Article

Utility of multimodal ocular imaging in tuberous sclerosis complex-Review of literature along with a case illustration.

Published in:

2022

By:

Venkatesh, Ramesh;
Reddy, Nikitha;
Jayadev, Chaitra;
Bhatt, Abhishek;
Agrawal, Rohit;
Yadav, Naresh;
Reddy, Nikitha G;
Yadav, Naresh K

Publication type:

journal article

Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex.

Published in:

2016

By:

Boronat, Susana;
Barber, Ignasi;
Pargaonkar, Vivek;
Chang, Joshua;
Thiele, Elizabeth;
Thiele, Elizabeth A

Publication type:

journal article

Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.

Published in:

Pediatric Radiology, 2015, v. 45, n. 3, p. 386, doi. 10.1007/s00247-014-3147-1

By:

Kaplan, Bernard;
Darge, Kassa;
Back, Susan;
Andronikou, Savvas;
Kilborn, Tracy

Publication type:

Article

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).

Published in:

2021

By:

Sauter, Matthias;
Belousova, Elena;
Benedik, Mirjana P.;
Carter, Tom;
Cottin, Vincent;
Curatolo, Paolo;
Dahlin, Maria;
D'Amato, Lisa;
d'Augères, Guillaume B.;
de Vries, Petrus J.;
Ferreira, José C.;
Feucht, Martha;
Fladrowski, Carla;
Hertzberg, Christoph;
Jozwiak, Sergiusz;
Lawson, John A.;
Macaya, Alfons;
Marques, Ruben;
Nabbout, Rima;
O'Callaghan, Finbar

Publication type:

journal article

Fibroma-like PEComa: a newly recognized soft tissue neoplasm in tuberous sclerosis patients—imaging features and review of literature.

Published in:

Skeletal Radiology, 2022, v. 51, n. 4, p. 881, doi. 10.1007/s00256-021-03923-4

By:

Bajaj, Gitanjali;
Lindberg, Matthew R.;
Chee, Winson;
Samanta, Debopam;
Chhabra, Avneesh

Publication type:

Article

Tuberous sclerosis: diffusion MRI findings in the brain.

Published in:

2002

By:

Sener, R. N.

Publication type:

journal 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

Oral and skin manifestations of tuberous sclerosis complex.

Published in:

Journal of Oral Medicine & Oral Surgery, 2019, v. 25, n. 4, p. 1, doi. 10.1051/mbcb/2019015

By:

Jacinthe, Lafont;
Jean-Hughes, Catherine;
Mathilde, Lejeune;
Ugo, Ordioni;
Romain, Lan;
Fabrice, Campana

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

Srdeční rhabdomyomy jako časný příznak tuberózní sklerózy.

Published in:

Pediatrie pro Praxi, 2021, v. 22, n. 3, p. 212

By:

Najdeková, Mária;
Mlynárová, Simona;
Pavlíček, Jan;
Hanzlíková, Pavla;
Štěpánová, Eva;
Kaniová, Romana;
Vrtěl, Radek

Publication type:

Article

CLINICAL CASE REPORT: TUBEROUS SCLEROSIS COMPLEX.

Published in:

2025

By:

Raza, Mahnoor;
Iqbal, Saleem

Publication type:

Case Study

ANESTHESIA CONCERNS FOR CHILDREN WITH TUBEROUS SCLEROSIS.

Published in:

AANA Journal, 2006, v. 74, n. 3, p. 219

By:

Septer, Steve;
Thompson, Edward S.;
Willemsen-Dunlap, Ann

Publication type:

Article

Clinicopathological characteristics of cortical tubers in tuberous sclerosis complex easily misdiagnosed as focal cortical dysplasia II b.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 6, p. 418, doi. 10.3969/j.issn.1672-6731.2018.06.007

By:

LI Hai-nan;
WU Jing;
ZENG Yao-hong;
ZHOU Jie-ming;
JIANG Guang-yu;
HAN Hui-xia

Publication type:

Article

Clinical features of tuberous sclerosis complex in children with epilepsy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 12, p. 1081, doi. 10.3969/j.issn.1672-6731.2014.12.011

By:

LI Dong;
ZHANG Yu-qin;
YU Xiao-li;
LIU Li-zhen;
ZHAO Bin

Publication type:

Article

Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review.

Published in:

Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.916016

By:

Xinhe Zhang;
Xinping Zhong;
Xuyong Lin;
Xuedan Li;
Haoyu Tian;
Bing Chang;
Ying Wang;
Jing Tong;
Ningning Wang;
Dan Li;
Xiuli Jin;
Die Huang;
Yanmeng Wang;
Huipeng Cui;
Lin Guan;
Yiling Li

Publication type:

Article

A prospective longitudinal study of early cognitive development in tuberous sclerosis: A clinic based study.

Published in:

European Child & Adolescent Psychiatry, 2004, v. 13, n. 3, p. 159, doi. 10.1007/s00787-004-0383-1

By:

Humphrey, Ayla;
Williams, Jayne;
Pinto, Eleanor;
Bolton, Patrick F.

Publication type:

Article

Bilateral Sequential Profound Visual Loss in Tuberous Sclerosis.

Published in:

Seminars in Ophthalmology, 2017, v. 32, n. 5, p. 532, doi. 10.3109/08820538.2015.1131833

By:

Agraval, Umiya;
Rogers, Neil K.

Publication type:

Article

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.

Published in:

Molecular Autism, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2040-2392-5-16

By:

Sek Won Kong;
Sahin, Mustafa;
Collins, Christin D.;
Wertz, Mary H.;
Campbell, Malcolm G.;
Leech, Jarrett D.;
Krueger, Dilja;
Bear, Mark F.;
Kunkel, Louis M.;
Kohane, Isaac S.

Publication type:

Article

Pleomorphic xanthoastrocytoma in a case of tuberous sclerosis.

Published in:

2014

By:

Martin, Arvind G.;
Singh, Mutum Samarendra;
Idris, Badrisyah;
Abdullah, Jafri Malin

Publication type:

Case Study

Cutaneous Manifestations of Sarcoidosis Seen in a Patient with a History of Tuberous Sclerosis.

Published in:

2023

By:

Bernacki, Seth;
Dodia, Paarth;
Muse, Mikel Elizabeth;
Maxfield, Luke

Publication type:

Case Study

Intracranial Manifestations of Tuberous Sclerosis: A Pictorial Essay.

Published in:

Iranian Journal of Radiology, 2008, v. 6, n. 1, p. 221

By:

Kharrazi, M. H.;
Haghighatkhah, H. R.;
Noori, M.;
Taher, M. Sanei

Publication type:

Article

Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors.

Published in:

Kidney International, 2006, v. 70, n. 10, p. 1777, doi. 10.1038/sj.ki.5001853

By:

Rakowski, S. K.;
Winterkorn, E. B.;
Paul, E.;
Steele, D. J. R.;
Halpern, E. F.;
Thiele, E. A.

Publication type:

Article

Thoracic aortic aneurysm in a patient with tuberous sclerosis.

Published in:

Jornal Vascular Brasileiro, 2019, v. 18, p. 1, doi. 10.1590/1677-5449.160017

By:

Andreas Geiger, Martin;
Aparecido Cantador, Alex;
Terezinha Guillaumon, Ana

Publication type:

Article

Compromiso renal en un paciente con esclerosis tuberosa.

Published in:

2007

By:

Daza, Adriana Moreno;
Padilla, Paoloa García;
Rey, Roberto D'Achiardi

Publication type:

Case Study

Segmental collagenoma in tuberous sclerosis – Think beyond the skin: A rare case report.

Published in:

Indian Journal of Dermatology, 2023, v. 68, n. 1, p. 123, doi. 10.4103/ijd.ijd_1038_20

By:

Nagarajan, Ashok;
Manoharan, Krishnaswamy;
Moozhiyil, Shreya

Publication type:

Article

MUCOCUTANEOUS CHANGES IN TUBEROUS SCLEROSIS COMPLEX: A CLINICAL PROFILE OF 27 INDIAN PATIENTS.

Published in:

Indian Journal of Dermatology, 2009, v. 54, n. 3, p. 255, doi. 10.4103/0019-5154.55636

By:

Ghosh, Sudip Kumar;
Bandyopadhyay, Debabrata;
Chatterjee, Gobinda;
Ghosh, Arghyaprasun;
Sarkar, Sharmila;
Sarkar, Somenath

Publication type:

Article

UK guidelines for management and surveillance of Tuberous Sclerosis Complex.

Published in:

QJM: An International Journal of Medicine, 2019, v. 112, n. 3, p. 171, doi. 10.1093/qjmed/hcy215

By:

Amin, S;
Kingswood, J C;
Bolton, P F;
Elmslie, F;
Gale, D P;
Harland, C;
Johnson, S R;
Parker, A;
Sampson, J R;
Smeaton, M;
Wright, I;
O'Callaghan, F J

Publication type:

Article