Results 71 to 80 of about 5,977 (216)

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 [PDF]

, 2018
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation.
Balasubramanian, M. (Meena), Barnett, C.P. (Christopher P.), Becker, T.A. (Troy A.), Ben-Shachar, S. (Shay), Bertola, D.R. (Débora Romeo), Blakeley, J.O. (Jaishri O.), Burkitt-Wright, E.M.M. (Emma M.M.), Callaway, A. (Alison), Callens, T. (Tom), Chen, Y. (Yunjia), Chen, Z. (Zhenbin), Claes, K. (Kathleen), Crenshaw, M. (Melissa), Cunha, K.S. (Karin S.), Cunningham, M. (Mitch), D'Agostino, M.D. (Maria Daniela), Dahan, K. (Karin), De Luca, A. (Alessandro), Destrée, A. (Anne), Dhamija, R. (Radhika), Eoli, M. (Marica), Evans, D.G.R. (D. Gareth R.), Galvin-Parton, P. (Patricia), George-Abraham, J.K. (Jaya K.), Gomes, A. (Alicia), Gripp, K.W. (Karen), Guevara-Campos, J. (Jose), Hanchard, N.A. (Neil A.), Hernández-Chico, C. (Concepcion), Hsiao, M.-C. (Meng-Chang), Immken, L. (LaDonna), Janssens, S. (Sandra), Johnson, S. (Sherrell), Jones, K.J. (Kristi), Keena, B.A. (Beth A.), Kochhar, A. (Aaina), Koczkowska, M. (Magdalena), Korf, B. (Bruce), Legius, E. (Eric), Liebelt, J. (Jan), Mahoney, M.J. (Maurice J.), Martin, Y. (Yolanda), Martir-Negron, A. (Arelis), Maystadt, I. (Isabelle), McDougall, C. (Carey), McEntagart, M. (Meriel), Mendelsohn, N.J., Messiaen, L.M. (Ludwine), Miller, D.T. (David T.), Mortier, G. (Geert), Morton, J. (Jenny), Pappas, J. (John), Plotkin, S.R. (Scott R.), Pond, D. (Dinel), Rosenbaum, K. (Kenneth), Rubin, K. (Karol), Russell, L. (Laura), Rutledge, L.S. (Lane S.), Saletti, V. (Veronica), Schonberg, R. (Rhonda), Schreiber, A. (Allison), Seidel, M. (Meredith), Sharp, A. (Angela), Siqveland, E. (Elizabeth), Stockton, D.W. (David), Thornton, A.S. (Andrew), Trevisson, E. (Eva), Ullrich, N.J. (Nicole J.), Upadhyaya, M. (Meena), Verhelst, H. (H.), Wallace, M.R. (Margaret), Yap, Y.-S. (Yoon-Sim), Zackai, E. (Elaine), Zonana, J. (Jonathan), Zurcher, V. (Vickie)   +74 more
core   +1 more source

Meflin/ISLR is a meningeal cell‐specific marker involved in the development of meninges and meningioma progression

Brain Pathology, Volume 36, Issue 2, March 2026.
Mesenchymal stromal cell‐and fibroblast‐expressing Linx paralogue (Meflin) is expressed in embryonic meninges and contributes to meningeal homeostasis. In meningiomas, elevated Meflin correlates with higher grade and recurrence. Single‐cell RNA sequencing revealed a Meflin‐high tumor cell subset marked by reduced proliferation, WNT6 expression, and ...
Yukihiro Shiraki, Tomotsugu Kurauchi, Akitoshi Hara, Nobutoshi Esaki, Shinji Mii, Ryota Ando, Akihiro Sakai, Kuniaki Tanahashi, Fumiharu Ohka, Ryuta Saito, Atsushi Natsume, Yuki Hattori, Takaki Miyata, Atsushi Enomoto   +13 more
wiley   +1 more source

Cardiac overload resolved by resection of a large plexiform neurofibroma on both the buttocks and upper posterior thighs in a patient with neurofibromatosis type I: a case report

BMC Surgery, 2020
Background A large plexiform neurofibroma in patients with neurofibromatosis type I can be life threatening due to possible massive bleeding within the lesion.
Taro Mikami, Yuki Honma-Koretsune, Yui Tsunoda, Shintaro Kagimoto, Yuichiro Yabuki, Jiro Maegawa, Takashi Terauchi, Shintaro Nawata, Hiroyuki Kamide, Yoshinobu Ishiwata, Tabito Kino, Teruyasu Sugano   +11 more
doaj   +1 more source

Presentation and Outcomes of CNS Tumors Associated With Phakomatoses Syndromes From a Specialized Neuro‐Oncology Practice in India

Cancer Medicine, Volume 15, Issue 2, February 2026.
Encouraging survival is achieved in phakomatosis syndromes with conventional multimodality treatment (Surgery, RT, chemotherapy). There is an urgent need for easily administered systemic therapies which improve both quality and quantity of life. ABSTRACT Purpose Phakomatoses‐associated primary central nervous system (CNS) tumors are therapeutically ...
Anuradha Krishnan, Yamini Baviskar, Abhishek Chatterjee, Archya Dasgupta, Sridhar Epari, Arpita Sahu, Girish Chinnaswamy, Nandini Menon, Aliasgar Moiyadi, Tejpal Gupta, Jayant Sastri‐Goda   +10 more
wiley   +1 more source

Multidimensional ultrasound and computed tomography imaging support in bleeding plexiform neurofibromatosis of the scalp: A case report and literature review

Indian Journal of Dermatology, 2015
Active bleeding in plexiform neurofibromatosis can be a life-threatening complication in neurofibromatosis type 1 (NF1). The prompt imaging support of 2D-3D ultrasound (US) and computed tomography (CT) during the active hemorrhage phase of cutaneous ...
Ximena Wortsman, Nelson Lobos, Rodrigo De la Parra, Laura Carreno   +3 more
doaj   +1 more source

Outcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study

Cancer, Volume 132, Issue 3, 1 February 2026.
Abstract Background Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with a 5‐year survival rate of approximately 50%, secondary to their metastatic potential and resistance to therapy. MPNSTs can arise sporadically, as a late toxicity from therapeutic radiotherapy, or in patients with neurofibromatosis type 1 (NF1).
Rachel E. Aubrey, Pamela Psarianos, Anna T. Santiago, Anthony M. Griffin, Peter C. Ferguson, Abha A. Gupta, Hagit Peretz Soroka, David B. Shultz   +7 more
wiley   +1 more source

An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

Indian Journal of Ophthalmology, 2014
A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism ...
J Saravanan, A Rajendraprasad, S Priyadharshni   +2 more
doaj   +1 more source

Solitary Neurofibroma Of The Spermatic Cord: A Case Report. [PDF]

, 2015
We report the ultrasound, computerized tomography, positron emission tomography and magnetic resonance imaging findings of a 38-year-old man with a biopsy proven solitary neurofibroma of the spermatic cord.
Boto, J., Boudabbous, S., Gourmaud, J., Lobrinus, J.A., Terraz, S.   +4 more
core   +2 more sources

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT‐Like Syndromes: A Comparative Overview

European Journal of Neurology, Volume 33, Issue 2, February 2026.
Hereditary hemorrhagic telangiectasia (HHT) and several HHT‐like syndromes, including Wyburn–Mason, Cobb, Klippel–Trénaunay, Parkes Weber, neurofibromatosis type 1, PHACE(S), capillary malformation–AVM (CM‐AVM), Juvenile polyposis/HHT overlap, HHT type 5, PTEN hamartoma tumor syndrome, and blue rubber bleb nevus syndrome, share overlapping ...
Matteo Palermo, Carmelo Lucio Sturiale
wiley   +1 more source

Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Pinar del Río Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio

Revista de Ciencias Médicas de Pinar del Río, 2012
El neurofibroma plexiforme es un tumor complejo, que involucra varios tejidos. Llevan a una distorsión masiva del lugar donde se encuentran, originando problemas estéticos y médicos. Con este trabajo se pretende conocer la frecuencia de los neurofibromas
Miladys Orraca Castillo, Deysi Licourt Otero   +1 more
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