Works matching DE "TUBEROUS sclerosis diagnosis"

Results: 160

Abdominal Manifestations of Tuberous Sclerosis Complex.

Published in:

Applied Radiology, 2025, v. 54, n. 2, p. 21, doi. 10.37549/AR-D-24-0074

By:

Akram, Muhammad Nabeel;
Kai Xue;
Shiralkar, Kaustubh G.;
Chua, Steven S.

Publication type:

Article

Simple Bedside Screening Test for Tuberous Sclerosis.

Published in:

2022

By:

Jayakumar, Harish;
Padmanabhan, Ramashankari;
Vaikundam, Jayakumar

Publication type:

Letter

Open Emergency Repair of a Thoracoabdominal Aortic Aneurysm on a 12-Year-Old Boy With Tuberous Sclerosis.

Published in:

Vascular & Endovascular Surgery, 2024, v. 58, n. 1, p. 85, doi. 10.1177/15385744231184509

By:

Corso-Ramirez, Julian M.;
López, Mariana Molina;
Flórez, Paula Camila;
Barrera-Carvajal, Juan Guillermo;
Mackenzie, Jaime Camacho

Publication type:

Article

Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 877, doi. 10.1002/acn3.494

By:

Krueger, Darcy A.;
Sadhwani, Anjali;
Byars, Anna W.;
Vries, Petrus J.;
Franz, David N.;
Whittemore, Vicky H.;
Filip‐Dhima, Rajna;
Murray, Donna;
Kapur, Kush;
Sahin, Mustafa

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

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

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

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

Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 2, p. 134, doi. 10.1093/ckj/sft162

By:

Korula, Sophy;
Ekbote, Alka;
Kumar, Naresh;
Danda, Sumita;
Agarwal, Indira;
Chaturvedi, Swasti

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

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

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

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

BOURNEVILLE TUBEROUS SCLEROSIS - A CASE REPORT.

Published in:

2013

By:

Lungu, Mihaela;
Ursoiu, Alina;
Lefter, Mihaela

Publication type:

Case Study

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Published in:

2018

By:

Słowińska, Monika;
Jóźwiak, Sergiusz;
Peron, Angela;
Borkowska, Julita;
Chmielewski, Dariusz;
Sadowski, Krzysztof;
Jurkiewicz, Elżbieta;
Vignoli, Aglaia;
La Briola, Francesca;
Canevini, Maria Paola;
Kotulska-Jóźwiak, Katarzyna;
Słowińska, Monika;
Jóźwiak, Sergiusz;
Jurkiewicz, Elżbieta;
Kotulska-Jóźwiak, Katarzyna

Publication type:

journal article

Tuberous sclerosis and infantile spasms.

Published in:

1990

By:

Riikonen, R.;
Simell, O.

Publication type:

journal article

Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report and review of literature.

Published in:

2010

By:

Olubunmi, Ogunrin A.

Publication type:

Case Study

Intraoral Desmoplastic Fibroma: A Manifestation of Tuberous Sclerosis.

Published in:

Fetal & Pediatric Pathology, 2012, v. 31, n. 4, p. 195, doi. 10.3109/15513815.2011.648719

By:

Tandon, Sandeep;
Garg, Rajeev Kumar

Publication type:

Article

Hereditary Renal Tumor Syndromes and the Use of mTOR Inhibitors.

Published in:

Oncology (08909091), 2024, v. 38, n. 10, p. 376, doi. 10.46883/2024.25921027

By:

Rodríguez-Olivares, José Luis;
González-Sánchez, Héctor Raúl;
Beas-Lozano, Evelyn Lilian;
Arteaga-Vázquez, Jazmin;
Lam, Elaine T.;
Bourlon, María Teresa

Publication type:

Article

Vitiligo: a sign of systemic disease.

Published in:

2006

By:

Huggins, Richard H.;
Janusz, Christopher A.;
Schwartz, Robert A.

Publication type:

journal article

NAVIGATING TUBEROUS SCLEROSIS IN A 41-YEAROLD PATIENT: CLINICAL INSIGHTS AND MANAGEMENT.

Published in:

International Journal of Pure Medical Research, 2024, v. 9, n. 5, p. 1

By:

Yanamadala, Pavan Kumar;
Vemana, Hema Ratna Sai Lakshmi;
Sana, Praveen;
Allavarapu, Manogna;
Chikkala, Bhagya Aruna

Publication type:

Article

Novel case of resolution of hypsarrhythmia following tuber resection in a patient with infantile spasms and tuberous sclerosis.

Published in:

Clinical Case Reports, 2017, v. 5, n. 6, p. 859, doi. 10.1002/ccr3.780

By:

Marsh, Robert;
Nichols, Courtney;
Payne, Mary

Publication type:

Article

Oral Abstracts.

Published in:: Journal of Intellectual Disability Research, 2013, v. 57, n. 9, p. 798, doi. 10.1111/jir.12071
Publication type:: Article

Tuberous sclerosis associated with a renal angiomyolipoma.

Published in:

2015

By:

Chang, Patricia;
Meaux, Tyson;
Gramajo Rodas, Marisol

Publication type:

Case Study

Testicular cancer and the tuberous sclerosis complex.

Published in:

2012

By:

Tandstad, Torgrim;
Indreb, Gunnar

Publication type:

Letter

Diagnosis and Management of Tuberous Sclerosis Complex in a Resource-Limited Setting—A Case Report of a 14-Year-Old Female Zambian Adolescent.

Published in:

Clinical Medicine Insights: Case Reports, 2025, p. 1, doi. 10.1177/11795476251321268

By:

Lienda, Mwamba;
Mwila, Meek;
Sichula, Chilala;
Kabengele, Chishiba;
Akombwa, Moses;
Zulu, Christina;
Banda, Chihena Hansini;
M'hango, Hellen

Publication type:

Article

MULTIDISCIPLINARY APPROACH TO A COMPLEX CASE OF ACUTE CHILD PNEUMONIA.

Published in:

Jurnalul Pediatrului, 2019, v. 22, n. 85-86, p. 89

By:

Bătăneanț, M.;
Petrescu, C.;
Jinca, C.;
Popoiu, A.;
Stroescu, R.;
Chiriță-Emandi, A.;
Puiu, M.;
Ștefănescu, E.;
Beloia, A.;
Pop, M.;
Lelik, M.;
Mardan, M.;
Arghirescu, S.

Publication type:

Article

Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations: An Epidemiological Study of 166 Japanese Patients

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063910

By:

Wataya-Kaneda, Mari;
Tanaka, Mari;
Hamasaki, Toshimitsu;
Katayama, Ichiro

Publication type:

Article

Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex.

Published in:

2019

By:

Toldo, Irene;
Bugin, Samuela;
Perissinotto, Egle;
Pelizza, Maria Federica;
Vignoli, Aglaia;
Parazzini, Cecilia;
Canevini, Maria Paola;
Nosadini, Margherita;
Sartori, Stefano;
Manara, Renzo

Publication type:

journal article

MRI of cardiac rhabdomyoma in the fetus.

Published in:

2004

By:

Kivelitz, Dietmar E;
Mühler, Matthias;
Rake, Annett;
Scheer, Ianina;
Chaoui, Rabih

Publication type:

journal article

Tuberous sclerosis: diffusion MRI findings in the brain.

Published in:

2002

By:

Sener, R. N.

Publication type:

journal article

MRI characteristics of cerebellar tubers and their longitudinal changes in children with tuberous sclerosis complex.

Published in:

Child's Nervous System, 2015, v. 31, n. 1, p. 109, doi. 10.1007/s00381-014-2542-0

By:

Daghistani, Razan;
Rutka, James;
Widjaja, Elysa

Publication type:

Article

Multiple Cardiac Rhabdomyomas Visualised Using Micro-CT in a Case of Tuberous Sclerosis.

Published in:

2017

By:

Hutchinson, J. Ciaran;
ashworth, Michael T.;
Sebire, Neil J.;
arthurs, Owen J.

Publication type:

journal article

Tuberous Sclerosis Complex: An Update for Dermatologists.

Published in:

Pediatric Dermatology, 2015, v. 32, n. 5, p. 563, doi. 10.1111/pde.12567

By:

Jacks, Stephanie K.;
Witman, Patricia M.

Publication type:

Article

CORRESPONDENCE.

Published in:

Pediatric Dermatology, 1999, v. 16, n. 5, p. 406

By:

Bercedo, A.;
Cabero, M. J.;
Garcia-Consuegra, J.;
Hernado, M.;
Yanez, S.;
Fernandez-Llaca, H.;
Hirsch, Ranella J.;
Silverberg, Nannette B.;
Laude, Teresita;
Wienberg, Jeffrey M.;
Al-Sawan, Rima M. Z.;
Soni, Amrit L.;
Al-Kobrosly, Ayman M.;
Shawkat, Medhat M.;
Al-Saleh, Qusai;
Al-Sabah, Hamoud Y.;
Tahmiscija, D'Vasva;
Sethuraman, Gomathy;
Handa, Sanjeev;
Radotra, Bishan

Publication type:

Article

Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex.

Published in:

Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/925646

By:

Gusman, Mariya;
Servaes, Sabah;
Feygin, Tamara;
Degenhardt, Karl;
Epelman, Monica

Publication type:

Article

Multipl akrokordonlarla tanı alan tuberoskleroz olgusu.

Published in:

Journal of Clinical & Experimental Investigations, 2013, v. 4, n. 1, p. 130, doi. 10.5799/ahinjs.01.2013.01.0251

By:

İnci, Rahime;
Aksoy, Adnan;
İnci, Mehmet Fatih;
Özyurt, Kemal;
Öztürk, Perihan

Publication type:

Article

Tuberous Sclerosis.

Published in:

Journal of Bangladesh College of Physicians & Surgeons, 2013, v. 31, n. 4, p. 230

By:

MOLLAH, M. A. H.;
RAHMAN, S.

Publication type:

Article

Tuberous Sclerosis.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 4, p. 1, doi. 10.7860/JCDR/2015/11969.5800

By:

Gupta, Anjali;
Singh, Siddharth Kumar;
Phulambrikar, Tushar;
Kumar, Sandeep;
Roy, Sayak

Publication type:

Article

TUBEROUS SCLEROSIS COMPLEX IN A FAMILY.

Published in:

2010

By:

Haque, Md. Azizul;
Sharmi, Laila Shamima;
Ekram, A. R. M. Saifuddin;
Islam, Md. Saiful

Publication type:

Case Study

Role of mutational analysis in diagnosis of tuberous sclerosis complex.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 282, doi. 10.1111/j.1399-0004.2008.01129.x

By:

Vail, E. A.;
Rakowski, S. K.;
Numis, A. L.;
Thiele, E. A.

Publication type:

Article

Genetics Corner: Risk of Epilepsy in an Asymptomatic Infant with Prenatally Diagnosed Tuberous Sclerosis.

Published in:

2020

By:

Clark, Robin Dawn;
Ramaanthan, Subhadra

Publication type:

Case Study

The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 30, p. 10762, doi. 10.1523/JNEUROSCI.4796-14.2015

By:

Duyu Nie;
Zehua Chen;
Ebrahimi-Fakhari, Darius;
Di Nardo, Alessia;
Julich, Kristina;
Robson, Victoria K.;
Yung-Chih Cheng;
Woolf, Clifford J.;
Heiman, Myriam;
Sahin, Mustafa

Publication type:

Article

Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Published in:

Journal of Genetics, 2018, v. 97, n. 2, p. 419, doi. 10.1007/s12041-018-0927-7

By:

Glushkova, M.;
Bojinova, V.;
Koleva, M.;
Dimova, P.;
Bojidarova, M.;
Litvinenko, I.;
Todorov, T.;
Iluca, E.;
Calusaru, C.;
Neagu, E.;
Craiu, D.;
Mitev, V.;
Todorova, A.

Publication type:

Article

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice.

Published in:

2011

By:

Feliciano, David M.;
Su, Tiffany;
Lopez, Jean;
Platel, Jean-Claude;
Bordey, Angelique;
Bordey, Angélique

Publication type:

journal article

How early is too early? Diagnosis of tuberous sclerosis complex in a neonate.

Published in:

2023

By:

Prashanth, R;
Nair, S;
Haribalakrishna, A;
Thakkar, H

Publication type:

Case Study

Tuberous sclerosis and its rare association with macrodactyly and fibrous hamartomas.

Published in:

2017

By:

Lim, Y.;
Mak, M.;
Mohan, P.;
Lim, Y S;
Mak, M S;
Mohan, P C

Publication type:

journal article

Evaluation of the relationship between corpus callosum and internal capsule and tuber load in patients with tuberous sclerosis complex by diffusion tensor imaging.

Published in:

Annals of Medical of Research, 2021, v. 28, n. 3, p. 575, doi. 10.5455/annalsmedres.2020.06.580

By:

Hacer Cesme, Dilek

Publication type:

Article

Tuberous sclerosis complex – The importance of genetic testing.

Published in:

2023

By:

Borges, Joana Pires;
Grenha Pereira, Joana;
Rainha Campos, Alexandre;
Santos, Fátima

Publication type:

Case Study

Supraventricular tachycardia in a 5‐month‐old infant with tuberous sclerosis complex.

Published in:

2021

By:

Karatza, Ageliki A;
Gkentzi, Despoina;
Loukopoulou, Sofia;
Dimitriou, Gabriel

Publication type:

Case Study