Works matching DE "PHAKOMATOSES"

Results: 279

Pediatric brain MRI in neurofibromatosis type I.

Published in:

2005

By:

Mentzel, Hans-J.;
Seidel, Jörg;
Fitzek, Clemens;
Eichhorn, Annegret;
Vogt, Susanna;
Reichenbach, Jürgen R.;
Zintl, Felix;
Kaiser, Werner A.;
Seidel, Jörg;
Reichenbach, Jürgen R

Publication type:

journal article

Aneurysmal bone cyst arising from fibrous dysplasia of the frontal bone (2004:2b).

Published in:

European Radiology, 2004, v. 14, n. 5, p. 930, doi. 10.1007/s00330-003-2181-4

By:

Wen-Chiung Lin;
Hung-Ta Hondar Wu;
Chao-Jung Wei;
Cheng-Yen Chang

Publication type:

Article

Tuberous sclerosis: diffusion MRI findings in the brain.

Published in:

2002

By:

Sener, R. N.

Publication type:

journal article

Early spontaneous regression of a hypothalamic/chiasmatic mass in neurofibromatosis type 1: MR findings.

Published in:

2000

By:

Zuccoli, G.;
Ferrozzi, F.;
Sigorini, M.;
Virdis, R.;
Bassi, P.;
Bellomi, M.

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

Neurofibromatosis type 1 ( NF1) gene: Beyond café au lait spots and dermal neurofibromas.

Published in:

Experimental Dermatology, 2017, v. 26, n. 7, p. 645, doi. 10.1111/exd.13212

By:

Peltonen, Sirkku;
Kallionpää, Roope A.;
Peltonen, Juha

Publication type:

Article

Current concepts on ocular vascular abnormalities in the phakomatoses.

Published in:

Seminars in Ophthalmology, 2021, v. 36, n. 7, p. 549, doi. 10.1080/08820538.2021.1900284

By:

de Paula, Alessandro;
Abdolrahimzadeh, Solmaz;
Fragiotta, Serena;
Di Pippo, Mariachiara;
Scuderi, Gianluca

Publication type:

Article

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Published in:

2016

By:

Kjell, Van;
Hilde, Brems;
Eric, Legius;
Johan, Lammens;
Armand, Laumen;
Kjell, Van Royen;
Van Royen, Kjell;
Brems, Hilde;
Legius, Eric;
Lammens, Johan;
Laumen, Armand

Publication type:

journal article

Familial Tuberous Sclerosis.

Published in:

Clinical Pediatrics, 1966, v. 5, n. 2, p. 127, doi. 10.1177/000992286600500215

By:

Bejar, Rafael L.

Publication type:

Article

Parental age and risk of genetic syndromes predisposing to nervous system tumors: nested case–control study.

Published in:

Clinical Epidemiology, 2018, v. 10, p. 729, doi. 10.2147/CLEP.S159183

By:

Fahmideh, Maral Adel;
Tettamanti, Giorgio;
Lavebratt, Catharina;
Talbäck, Mats;
Mathiesen, Tiit;
Lannering, Birgitta;
Johnson, Kimberly J;
Feychting, Maria

Publication type:

Article

Painful tumors in a patient with neurofibromatosis type 1: a case report.

Published in:

2018

By:

Aqil, Niema;
Gallouj, Salim;
Moustaide, Kaoutar;
Mernissi, Fatima Zahra

Publication type:

journal article

Anaesthetic Considerations in a Patient with Neurofibromatosis.

Published in:

Indian Anaesthetists' Forum, 2011, p. 1

By:

Raghove, Punam;
Singh, Karampal;
Lal, Jatin;
Taxak, Susheela;
Ahlawat, Geeta

Publication type:

Article

Academic Impairment is the Most Frequent Complication of Neurofibromatosis Type-1 (NF1) in Children.

Published in:

Behavior Genetics, 2006, v. 36, n. 5, p. 660, doi. 10.1007/s10519-005-9040-9

By:

Coudé, François;
Mignot, Claire;
Lyonnet, Stanislas;
Munnich, Arnold

Publication type:

Article

Quick Genetic Screening Using Targeted Next-Generation Sequencing in Patients With Tuberous Sclerosis.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 5, p. 610, doi. 10.1177/0883073814531332

By:

Liu, Qing;
Huang, Yan;
Zhang, Mingrong;
Wang, Lian Qing;
Guo, Xia Nan;
Si, Nuo;
Qi, Zhan;
Zhou, Xiang Qin;
Cui, Li-ying

Publication type:

Article

The Burden of Subependymal Giant Cell Astrocytomas Associated With Tuberous Sclerosis Complex: Results of a Patient and Caregiver Survey.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 5, p. 563, doi. 10.1177/0883073814523318

By:

Skalicky, Anne M.;
Rentz, Anne M.;
Liu, Zhimei;
Wheless, James W.;
Pelletier, Corey L.;
Dunn, David W.;
Frost, Michael D.;
Nakagawa, JoAnne;
Magestro, Matthew;
Prestifilippo, Judith;
Pashos, Chris

Publication type:

Article

Increased Prevalence of Ametropia in Children With Neurofibromatosis Type 1 Disease.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 1, p. 113, doi. 10.1177/0883073813520504

By:

Dotan, Gad;
Keren, Shay;
Stolovitch, Chaim;
Toledano-Alhadef, Hagit;
Kesler, Anat

Publication type:

Article

Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 5, p. 561, doi. 10.1177/0883073812448531

By:

Kaas, Bonnie;
Huisman, Thierry A. G. M.;
Tekes, Aylin;
Bergner, Amanda;
Blakeley, Jaishri O.;
Jordan, Lori C.

Publication type:

Article

Clinical and Instrumental (Magnetic Resonance Imaging [MRI] and Multimodal Evoked Potentials) Follow-Up of Brain Lesions in Three Young Patients With Neurofibromatosis 1.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 12, p. 1085, doi. 10.1177/7010.2006.00124

By:

Margari, Lucia;
Presicci, Anna;
Ventura, Patrizia;
Bacca, Simona Maria;
Iliceto, Gianni;
Medicamento, Nicola;
Buttiglione, Maura;
Perniola, Tommaso

Publication type:

Article

Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex: Case Report With Molecular Confirmation.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 12, p. 988

By:

Jóźwiak, Sergiusz;
Domańnska-Pakielá, Dorota;
Kwiatkowski, David J.;
Kotulska, Katarzyna

Publication type:

Article

Proton Spectroscopic Findings in Children With Epilepsy Owing to Tuberous Sclerosis Complex.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 6, p. 517, doi. 10.1177/08830738050200060901

By:

Yapici, Zuhal;
Dincer, Alp;
Eraksoy, Mefkure

Publication type:

Article

Effect of Melatonin Dosage on Sleep Disorder in Tuberous Sclerosis Complex.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 1, p. 78, doi. 10.1177/08830738050200011302

By:

Hancock, Eleanor;
O'Callaghan, Finbar;
Osborne, John P.

Publication type:

Article

Cognitive and Behavioral Correlates of Tuberous Sclerosis Complex.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 11, p. 847, doi. 10.1177/08830738040190110101

By:

Zaroff, Charles M.

Publication type:

Article

Managing Epilepsy in Tuberous Sclerosis Complex.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 9, p. 680, doi. 10.1177/08830738040190090801

By:

Thiele, Elizabeth Anne

Publication type:

Article

Behavioral and Cognitive Aspects of Tuberous Sclerosis Complex.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 9, p. 666, doi. 10.1177/08830738040190090601

By:

Prather, Penny

Publication type:

Article

Standardized Whole Brain Mapping of Tubers and Subependymal Nodules in Tuberous Sclerosis Complex.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 9, p. 658, doi. 10.1177/08830738040190090501

By:

Ridler, Khanum;
Suckling, John;
Higgins, Nicholas;
Bolton, Patrick;
Bullmore, Edward

Publication type:

Article

Functional Magnetic Resonance Imaging of Phonologic Processing in Neurofibromatosis 1.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 11, p. 731, doi. 10.1177/08830738030180110701

By:

Billingsley, Rebecca L.;
Jackson, Edward F.;
Slopis, John M.;
Swank, Paul R.;
Mahankali, Srikanth;
Moore III, Bartlett D.

Publication type:

Article

High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case-control study.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0239-4

By:

Cunha, Karin Soares;
Rozza-de-Menezes, Rafaela Elvira;
Luna, Eloá Borges;
de Sousa Almeida, Lilian Machado;
de Andrade Pontes, Raquel Richelieu Lima;
Almeida, Paula Nascimento;
de Aguiar, Letícia Vidaurre;
Dias, Eliane Pedra

Publication type:

Article

Identification of the Epileptogenic Tuber in Patients with Tuberous Sclerosis: A Comparison of High-resolution EEG and MEG.

Published in:

Epilepsia (Series 4), 2006, v. 47, n. 1, p. 108, doi. 10.1111/j.1528-1167.2006.00373.x

By:

Jansen, Floor E.;
Huiskamp, Geertjan;
Huffelen, Alexander C.;
Bourez-Swart, Mireille;
Boere, Elvira;
Gebbink, Tineke;
Vincken, Koen L.;
Nieuwenhuizen, Onno

Publication type:

Article

Basic Science.

Published in:: Epilepsia (Series 4), 2005, v. 46, n. 12, p. 1856, doi. 10.1111/j.1528-1167.2005.00125_1.x
Publication type:: Article

Epileptogenesis and Reduced Inward Rectifier Potassium Current in Tuberous Sclerosis Complex-1–Deficient Astrocytes.

Published in:

Epilepsia (Series 4), 2005, v. 46, n. 12, p. 1871, doi. 10.1111/j.1528-1167.2005.00289.x

By:

Jansen, Laura A.;
Uhlmann, Erik J.;
Crino, Peter B.;
Gutmann, David H.;
Wong, Michael

Publication type:

Article

Leptomeningeal Enhancement and Enlarged Choroid Plexus Simulating the Appearance of Sturge–Weber Disease in a Child with Tuberous Sclerosis.

Published in:

2005

By:

Kremer, Stephane;
Schmitt, Emmanuelle;
Klein, Olivier;
Vignal, Jean P.;
Moret, Christiane;
Kahane, Philippe;
Arzimanoglou, Alexis

Publication type:

Letter

Free Papers: Psychiatric Aspects.

Published in:: Epilepsia (Series 4), 2005, v. 46, p. 8, doi. 10.1111/j.0013-9580.2005.462002_3.x
Publication type:: Article

Tuberous Sclerosis and Multiple Tubers: Localizing the Epileptogenic Zone.

Published in:

Epilepsia (Series 4), 2004, v. 45, p. 41, doi. 10.1111/j.0013-9580.2004.04009.x

By:

Weiner, Howard L.

Publication type:

Article

HMB-45 Staining in Angiomyolipoma, Cardiac Rhabdomyoma, Other Mesenchymal Processes, and Tuberous Sclerosis-associated Brain Lesions.

Published in:

International Journal of Surgical Pathology, 1994, v. 1, n. 3, p. 191, doi. 10.1177/106689699400100307

By:

Weeks, Douglas A.;
Chase, Donald R.;
Malott, Richelle L.;
Chase, Resa L.;
Zuppan, Craig W.;
Beckwith, J. Bruce;
Mierau, Gary W.

Publication type:

Article

First use of patient reported outcomes measurement information system (PROMIS) measures in adults with neurofibromatosis.

Published in:

Journal of Neuro-Oncology, 2017, v. 131, n. 2, p. 413, doi. 10.1007/s11060-016-2314-7

By:

Talaei-Khoei, Mojtaba;
Riklin, Eric;
Merker, Vanessa;
Sheridan, Monica;
Jordan, Justin;
Plotkin, Scott;
Vranceanu, Ana-Maria

Publication type:

Article

Gamma Knife radiosurgery for neurofibromatosis type 2-associated meningiomas: a 22-year patient series.

Published in:

Journal of Neuro-Oncology, 2016, v. 130, n. 3, p. 553, doi. 10.1007/s11060-016-2257-z

By:

Birckhead, Brandon;
Sio, Terence;
Pollock, Bruce;
Link, Michael;
Laack, Nadia

Publication type:

Article

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1.

Published in:

Journal of Neuro-Oncology, 2014, v. 116, n. 2, p. 307, doi. 10.1007/s11060-013-1293-1

By:

Nguyen, Rosa;
Jett, Kimberly;
Harris, Gordon;
Cai, Wenli;
Friedman, Jan;
Mautner, Victor-Felix

Publication type:

Article

Meningiomas in Children.

Published in:

Pediatric Neurosurgery, 2007, v. 44, n. 1, p. 9, doi. 10.1159/000110656

By:

Greene, Stephanie;
Nair, Nathan;
Ojemann, Jeffrey G.;
Ellenbogen, Richard G.;
Avellino, Anthony M.

Publication type:

Article

Dural Ectasia in Neurofibromatosis.

Published in:

Pediatric Neurosurgery, 2002, v. 37, n. 6, p. 331, doi. 10.1159/000066305

By:

Tubbs, R. Shane;
Oakes, W. Jerry

Publication type:

Article

Tuberous Sclerosis.

Published in:

Pediatric Neurosurgery, 2002, v. 37, n. 5, p. 276, doi. 10.1159/000066208

By:

Bong-Soo Kim;
LaMarca, Victoria;
Jallo, George I.

Publication type:

Article

Late Effects of Therapy of Thalamic and Hypothalamic Tumors in Childhood: Vascular, Neurobehavioral and Neoplastic.

Published in:

Pediatric Neurosurgery, 2000, v. 33, n. 2, p. 105, doi. 10.1159/000028985

By:

Siffert, Joao;
Allen, Jeffrey C.

Publication type:

Article

Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma.

Published in:

2018

By:

Prieto‐Barrios, M.;
Llamas‐Martin, R.;
Velasco‐Tamariz, V.;
Calleja‐Algarra, A.;
Ruano, Y.;
Ortiz‐Romero, P.L.;
Rodriguez‐Peralto, J.L.

Publication type:

Case Study

Phacomatosis pigmentokeratotica and precocious puberty associated with <italic>HRAS</italic> mutation.

Published in:

2018

By:

Martin, R. J.;
Arefi, M.;
Splitt, M.;
Redford, L.;
Moss, C.;
Rajan, N.

Publication type:

Case Study

Neurofibromatosis type II presenting as vertical diplopia.

Published in:

Strabismus (09273972), 2004, v. 12, n. 3, p. 175, doi. 10.1080/09273970490491178

By:

Sokwala, Ahmed P.;
Knapp, Christopher M.;
Gottlob, Irene

Publication type:

Article

Spatial co-occurrence of hemangioma and epidermal nevus.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 3, p. e163, doi. 10.1111/ijd.13077

By:

Errichetti, Enzo;
Piccirillo, Angelo

Publication type:

Article

Bilateral segmental neurofibromatosis.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 9, p. 1136, doi. 10.1111/j.1365-4632.2012.05735.x

By:

Lopes, Márcia Regina A.;
Vilar, Airá Novello;
Pockstaller, Mercedes Prates;
Daher, João Gabriel;
Azulay, David Rubem

Publication type:

Article

An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 5, p. 619, doi. 10.1111/j.1365-4632.2012.05599.x

By:

Fan, Yi‐Ming;
Liu, Zhen;
Zhu, Cheng‐Yao;
Li, Wen;
Li, Shun‐Fan

Publication type:

Article

A unique case of phakomatosis pigmentovascularis.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 4, p. e282, doi. 10.1111/ijd.12207

By:

Jun, Li;
Qiu‐Ning, Sun

Publication type:

Article

Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva.

Published in:

International Journal of Dermatology, 2011, v. 50, n. 8, p. 994, doi. 10.1111/j.1365-4632.2010.04666.x

By:

Taheri, Ahmad Reza;
Nikandish, Malihe;
Mashayekhi, Vahid;
Noori, Saber Shojaie

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