Works matching DE "NEUROFIBROMATOSIS 1"

Results: 1864

Mirdametinib: First Approval.

Published in:

Drugs, 2025, v. 85, n. 7, p. 977, doi. 10.1007/s40265-025-02190-0

By:

Hoy, Sheridan M.

Publication type:

Article

General dermatology and dermatology in primary health care.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1270, doi. 10.1093/ced/llaf058

By:

Hanley, Geoffrey;
Conroy, Keavy;
Eustace, Karen

Publication type:

Article

Malignant peripheral nerve sheath tumor of the nasal cavity: a rare diagnostic and therapeutic challenge.

Published in:

2025

By:

Oussalem, Amine;
Azgaoui, Anas;
Dani, Bouchra;
Boulaadas, Malik

Publication type:

Case Study

Prise en charge des GIST localisées : quelles actualités ?

Published in:

Hépato-Gastro & Oncologie Digestive, 2025, v. 32, n. 4, p. 351, doi. 10.1684/hpg.2025.2955

By:

Dejaeger, Aurélien;
Barhoum, Mickaël;
Brasseur, Mathilde;
Hautefeuille, Vincent;
Pracht, Marc;
Bouché, Olivier

Publication type:

Article

Treatment of Plexiform Neurofibromas : Current Perspectives on Surgery and Medical Treatment.

Published in:

Journal of Korean Neurosurgical Society, 2025, v. 68, n. 3, p. 252, doi. 10.3340/jkns.2025.0041

By:

Hwang, Jun Kyu;
Kim, Se Hoon;
Kim, Dong-Seok

Publication type:

Article

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100004

By:

Kafshboran, Haniyeh Rahbar;
Akcan, Neşe;
Polat, Doğa Ceren;
Ergören, Mahmut Çerkez

Publication type:

Article

The association of body image with quality of life, psychological assistance and social support in neurofibromatosis type 1 patients: a cross-sectional study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03729-w

By:

Muñoz, Daniel;
Jodar, Mercè;
Valls, Laia;
Fornieles-Deu, Albert;
Castellanos, Elisabeth;
Blanco, Ignacio

Publication type:

Article

Increased insulin-like growth factor-1 concentrations in paediatric suprasellar low-grade glioma: an international multicentre study Open Access.

Published in:

European Journal of Endocrinology, 2025, v. 192, n. 5, p. 641, doi. 10.1093/ejendo/lvaf095

By:

Roessel, Ichelle M A A van;
Bakker, Boudewijn;
Meeteren, Antoinette Y N Schouten-van;
Tissing, Wim J E;
Gan, Hoong-Wei;
Santen, Hanneke M van

Publication type:

Article

Sustained response to trametinib in an adult patient with neurofibromatosis type 1 and high-grade glioma.

Published in:

2025

By:

Dion, Bertrand;
Sathyakumar, Sayanthen;
Silverman, Jacob;
Coltin, Hallie;
Legault, Geneviève;
Perreault, Sébastien;
D'Astous, Myreille;
Lessard, Nathalie;
Saikali, Stephan;
Dion, Norbert;
Lava, Sebastiano;
Bouffet, Eric;
Jabado, Nada;
Renzi, Samuele

Publication type:

Case Study

Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03759-4

By:

Wang, Rui;
Zheng, Yu;
Yang, Ge;
Xu, Zhenchao;
Liu, Yaoxi;
Zhao, Weihua;
Wang, Hua;
Mei, Haibo;
Zhu, Guanghui

Publication type:

Article

Neurofibromatosis Type 1: Clinical and Imaging Perspectives From a Pediatric Case.

Published in:

2025

By:

Choudhary, Puneet Kumar;
Meena, Ankit Kumar;
Wander, Arvinder;
Mahesan, Aakash;
Singh, Paramdeep;
Komemushi, Atsushi

Publication type:

Case Study

Quantitative MRI of dorsal root ganglion alterations in neurofibromatosis type 1 patients with or without pain.

Published in:

European Radiology Experimental, 2025, v. 9, n. 1, p. 1, doi. 10.1186/s41747-025-00594-x

By:

Schindehütte, Magnus;
Meller, Eva;
Kampf, Thomas;
Hessenauer, Florian;
Üçeyler, Nurcan;
Homola, György;
Rittner, Heike L.;
Matthies, Cordula;
Pham, Mirko;
Weiner, Simon

Publication type:

Article

Anesthetic management of endovascular embolization in a patient of neurofibromatosis with associated aortic and multisystemic vasculopathy: A case report.

Published in:

2025

By:

Palaniswamy, Sangeetha R.;
Desai, Meshwa;
Arora, Ankit;
Aravinda, H. R.

Publication type:

Case Study

Precision Medicine for Pediatric Glioma and NF1-Associated Tumors: The Role of Small Molecule Inhibitors.

Published in:

Current Oncology, 2025, v. 32, n. 5, p. 280, doi. 10.3390/curroncol32050280

By:

Renzi, Samuele;
Bennett, Julie;
Thacker, Nirav;
Cacciotti, Chantel

Publication type:

Article

Does an osteotomy performed in congenital pseudarthrosis of the tibia accompanied by tibial angular deformity heal?

Published in:

Journal of Orthopaedic Surgery & Research, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13018-025-05806-z

By:

Liu, Yaoxi;
Zhu, Gunaghui;
Liao, Shijie;
Mei, Haibo;
Ding, Xiaofei

Publication type:

Article

Solitary neurofibroma confined to inferior rectus muscle tendon: a case report.

Published in:

2025

By:

Jafari, Reza;
Shushtari, Ali;
Ahmadi, Hanie;
Ahmadzade Amiri, Ahmad;
Veisi, Amir

Publication type:

Case Study

Total Colon "Collapse" in Giant Left-Sided Inguino-Scrotal Hernia: Double-Mesh Plastic Repair.

Published in:

Indian Journal of Surgery, 2020, v. 82, n. 3, p. 427, doi. 10.1007/s12262-019-01962-9

By:

Caprino, Paola;
Sacchetti, Franco;
Schena, Carlo Alberto;
Sofo, Luigi

Publication type:

Article

Obstructive Jaundice Secondary to Ampullary Adenocarcinoma in Neurofibromatosis Type 1.

Published in:

2013

By:

Yalagachin, Gurushantappa;
Mahantshetti, Prakash

Publication type:

Report

Small Bowel Obstruction in a Neurofibromatosis Patient-A Rare Presentation of Gastro-Intestinal Stromal Tumors (GISTs): Case Report and Literature Review.

Published in:

2013

By:

Saha, Subhendu;
Parmar, Rajni;
Mandal, Arnab

Publication type:

Report

Unusual Presentation of Gastrointestinal Stromal Tumor of Stomach in Neurofibromatosis Type 1: A Case Report.

Published in:

2013

By:

Swain, Sudeepta;
Smile, Robinson;
Arul, Tirou;
David, Dipak

Publication type:

Report

Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria – A Retrospective Cohort Study.

Published in:

Neurology India, 2024, v. 72, n. 6, p. 1174, doi. 10.4103/ni.ni_744_22

By:

Rekha, A;
Sanoop, A.V Muhammed;
Das, Sweta;
Chapla, Aaron;
Srinageshwari, Bhairavi;
Barney, Anitha;
Arunachalam, Gautham;
Mohan, Sony;
Danda, Sumita

Publication type:

Article

Neurofibromatosis Type 1 Related Hydrocephalus.

Published in:

2021

By:

Roth, Jonathan;
Constantini, Shlomi

Publication type:

journal article

Surgical dilemmas in the management of peripheral nerve tumors in neurofibromatosis 1.

Published in:

2019

By:

Bhat, Dhananjaya I;
Socolovsky, Mariano;
Singh, Vikram

Publication type:

journal article

Peripheral nerve tumors in neurofibromatosis 1: An overview on management and indications for surgical treatment in our experience.

Published in:

2019

By:

Garozzo, Debora

Publication type:

journal article

A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke.

Published in:

Surgical & Radiologic Anatomy, 2023, v. 45, n. 12, p. 1599, doi. 10.1007/s00276-023-03253-1

By:

Guarnizo, Angela;
Erripa, José I.;
Rugilo, Carlos

Publication type:

Article

Mast Cells in Human Cutaneous Neurofibromas: Density, Subtypes, and Association with Clinical Features in Neurofibromatosis 1.

Published in:

Dermatology (10188665), 2022, v. 238, n. 2, p. 329, doi. 10.1159/000517011

By:

Kallionpää, Roope A.;
Ahramo, Kaisa;
Martikkala, Eija;
Fazeli, Elnaz;
Haapaniemi, Pekka;
Rokka, Anne;
Leivo, Ilmo;
Harvima, Ilkka T.;
Peltonen, Juha;
Peltonen, Sirkku

Publication type:

Article

Living with a Rare Disease as a Family: A Co-Constructed Autoethnography from a Mother.

Published in:

Disabilities, 2022, v. 2, n. 2, p. 348, doi. 10.3390/disabilities2020025

By:

Damen, Irene;
Schippers, Alice;
Niemeijer, Alistair;
Abma, Tineke

Publication type:

Article

A Case of Isolated Neurofibroma of the Bladder in A Young Adult Man with No History of Neurofibromatosis Type 1: A Case Report.

Published in:

Caspian Journal of Pediatrics, 2022, v. 24, n. 1, p. 199, doi. 10.22088/jbums.24.1.199

By:

Shafi, H.;
Darzi, M. M.;
Kamalinia, H. R.;
Shektaei, S. H. Ghasemi;
Rostami, Gh.;
Kamrani, Gh.

Publication type:

Article

The many faces of neurofibromatosis type 1 in the pediatric brain.

Published in:

Alexandria Journal of Pediatrics, 2021, v. 34, n. 3, p. 219, doi. 10.4103/1687-9945.337833

By:

El-Beheiry, Ahmed A.;
Omar, Tarek E.;
Abougabal, Ahmed M.

Publication type:

Article

Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 6, p. 1, doi. 10.1210/jendso/bvae059

By:

Castroneves, Luciana Audi;
Mangone, Flavia Regina Rotea;
Lerario, Antonio Marcondes;
Mercante, Ana Maria da Cunha;
Batista, Rafael Loch;
Barros, Luciana Rodrigues Carvalho;
Ferreira, Carla Vaz;
Farias, Evelin Cavalcante;
Vanderlei, Felipe Augusto Brasileiro;
Maia, Ana Luiza;
Nagai, Maria Aparecida;
Jorge, Alexander Augusto Lima;
Hoff, Ana Oliveira

Publication type:

Article

Prevalence of Endocrine Manifestations and GIST in 108 Systematically Screened Patients With Neurofibromatosis Type 1.

Published in:

Journal of the Endocrine Society, 2023, v. 7, n. 8, p. 1, doi. 10.1210/jendso/bvad083

By:

Dupuis, Hippolyte;
Chevalier, Benjamin;
Cardot-Bauters, Catherine;
Jannin, Arnaud;
Cao, Christine Do;
Ladsous, Miriam;
Cortet, Christine;
Merlen, Emilie;
Drouard, Magali;
Aubert, Sébastien;
Vidaud, Dominique;
Espiard, Stéphanie;
Vantyghem, Marie-Christine

Publication type:

Article

Genetic Disorder Reference Sheet: Neurofibromatosis Type 1.

Published in:

ONS Voice, 2023, p. 1

By:

Mahon, Suzanne M.

Publication type:

Article

Anesthesia management for thoracoscopic resection of a huge intrathoracic meningocele: a case report.

Published in:

2024

By:

Nakazawa, Ryosuke;
Masui, Kenichi;
Goto, Takahisa

Publication type:

Case Study

Delayed emergence from anesthesia caused by an intraoperative cerebral embolism of a malignant peripheral nerve sheath tumor in a neurofibromatosis type 1 patient: a case report.

Published in:

2023

By:

Kawano, Keishi;
Tani, Makiko;
Morimatsu, Hiroshi

Publication type:

Case Study

Pseudoaneurysm of the Left Common Carotid Artery With Neurofibromatosis Type 1.

Published in:

Vascular & Endovascular Surgery, 2020, v. 54, n. 6, p. 549, doi. 10.1177/1538574420927523

By:

Umeno, Tadashi;
Shuto, Takashi;
Anai, Hirofumi;
Wada, Tomoyuki;
Kawashima, Takayuki;
Miyamoto, Shinji

Publication type:

Article

Endovascular Management of Neurofibromatosis Type I-Associated Vasculopathy: A Case Series and Brief Review of the Literature.

Published in:

Vascular & Endovascular Surgery, 2020, v. 54, n. 2, p. 182, doi. 10.1177/1538574419885257

By:

Raborn, Joel;
McCafferty, Benjamin J.;
Gunn, Andrew J.;
Moawad, Sherif;
Mahmoud, Khalid;
Aal, Ahmed K. Abdel;
Saddekni, Souheil

Publication type:

Article

Renal Autotransplant and Celiac Artery Bypass for Aneurysmal Degeneration Related to Neurofibromatosis Type 1.

Published in:

Vascular & Endovascular Surgery, 2019, v. 53, n. 6, p. 497, doi. 10.1177/1538574419846711

By:

Drucker, Natalie A.;
Blaibel, Maher F.;
Nagaraju, Santosh;
Wang, S. Keisin;
Goggins, William;
Fajardo, Andres

Publication type:

Article

Spontaneous Accessory Renal Artery Aneurysm Rupture in a Patient With Neurofibromatosis Type 1: A Case Report.

Published in:

2019

By:

Roberts, Kallie;
Fan, Betty;
Brightwell, Robert

Publication type:

Case Study

Spontaneous Accessory Renal Artery Aneurysm Rupture in a Patient With Neurofibromatosis Type 1: A Case Report.

Published in:

2019

By:

Roberts, Kallie;
Fan, Betty;
Brightwell, Robert

Publication type:

Case Study

Spontaneous Rupture of Multiple Occipital Artery Aneurysms in a Patient With Neurofibromatosis Type 1.

Published in:

Vascular & Endovascular Surgery, 2018, v. 52, n. 1, p. 86, doi. 10.1177/1538574417742285

By:

Bissacco, Daniele;
Domanin, Maurizio;
Romagnoli, Silvia;
Martelli, Edoardo;
Civelli, Vittorio;
Gabrielli, Livio

Publication type:

Article

Extracranial Internal Carotid Artery Pseudoaneurysm Associated With Neurofibromatosis Type 1 Treated With Endovascular Stenting and Coil Embolization.

Published in:

Vascular & Endovascular Surgery, 2014, v. 48, n. 2, p. 176, doi. 10.1177/1538574413510623

By:

Hamasaki, Osamu;
Ikawa, Fusao;
Hidaka, Toshikazu;
Kurokawa, Yasuharu;
Yonezawa, Ushio

Publication type:

Article

Spontaneous Renal Artery Aneurysm Rupture in a Patient With Neurofibromatosis Type 1 Without Risk Factors for Renal Artery Aneurysm Rupture.

Published in:

Vascular & Endovascular Surgery, 2013, v. 47, n. 7, p. 558, doi. 10.1177/1538574413495465

By:

Niwa, Naoya;
Yanaihara, Hitoshi;
Horinaga, Minoru;
Nakahira, Yoko;
Hanashima, Fuminari;
Asakura, Hirotaka

Publication type:

Article

The Endovascular Management of a Neurofibromatosis Vasculopathy: A Case Report.

Published in:

Vascular & Endovascular Surgery, 2012, v. 46, n. 7, p. 575, doi. 10.1177/1538574412454583

By:

Choong, Andrew;
Alagaratnam, Swethan;
Suliman, Samir;
Gikas, Panagiotis;
Briggs, Timothy;
Loh, Alexander;
Lotzof, Kevin

Publication type:

Article

Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes.

Published in:

Journal of Neurogenetics, 2018, v. 32, n. 2, p. 65, doi. 10.1080/01677063.2018.1456538

By:

Sharafi, Parisa;
Ayter, Sükriye

Publication type:

Article

Beware the neck mass: external jugular vein aneurysm in a patient with neurofibromatosis type 1.

Published in:

ANZ Journal of Surgery, 2025, v. 95, n. 5, p. 1032, doi. 10.1111/ans.70047

By:

Cheang, Catherine Jenn Yi;
Boue, Alberto Alejandro;
Kotecha, Krishna;
McDowell, Betty;
Wong, Shen;
Mittal, Anubhav;
Samra, Jaswinder

Publication type:

Article

Treatment of giant neurofibromas in extremities and trunk wall of neurofibromatosis type 1 patients: a Chinese 12‐year single‐institution experience.

Published in:

ANZ Journal of Surgery, 2024, v. 94, n. 9, p. 1524, doi. 10.1111/ans.19101

By:

Gao, Qianqian;
Yang, Zhe;
Ma, Ning;
Chen, Sen;
Li, Yangqun

Publication type:

Article

Obscure gastrointestinal bleeding in a patient with neurofibromatosis type 1.

Published in:

ANZ Journal of Surgery, 2022, v. 92, n. 11, p. 3105, doi. 10.1111/ans.17573

By:

Gunawardene, Ashok;
Fischer, Jesse

Publication type:

Article

Surgical debulking of a large thoracoabdominal plexiform neurofibroma with pericardial resection.

Published in:

ANZ Journal of Surgery, 2022, v. 92, n. 1, p. 283, doi. 10.1111/ans.17018

By:

Misiloi, Soane;
Haydock, David A.;
Cranshaw, Isaac;
Lauti, Melanie

Publication type:

Article

Salvage thoracotomy for atraumatic tension haemothorax in a patient with neurofibromatosis type 1: an Australian experience.

Published in:

ANZ Journal of Surgery, 2021, v. 91, n. 6, p. E419, doi. 10.1111/ans.16458

By:

Chen, Ji;
Bassin, Levi

Publication type:

Article

Near fatal haemorrhage in neurofibromatosis type 1 associated with occult giant cavernous venous malformation.

Published in:

ANZ Journal of Surgery, 2021, v. 91, n. 3, p. E147, doi. 10.1111/ans.16205

By:

Abeysekera, Nandoun;
Gardiner, Sarah;
Barnard, Stuart;
Mathy, Jon A.

Publication type:

Article