Results 1 to 10 of about 3,286,875 (206)

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report [PDF]

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung, Qais Karimi, Lan Kluwe, Said C. Farschtschi   +3 more
doaj   +5 more sources

Neurofibromatosis type 1 [PDF]

Radiologia Brasileira, 2022
1. Sabin Medicina Diagnóstica, Brasília, DF. Brazil. Email: alex.manzano1@ gmail.com. https://orcid.org/0000-0003-3047-519X. Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is one of the most common genetic diseases, with an estimated ...
A. Mançano
semanticscholar   +4 more sources

Management of neurofibromatosis type 1-associated plexiform neurofibromas

Neuro-Oncology, 2022
Plexiform Neurofibromas (PN) are a common manifestation of the genetic disorder neurofibromatosis type 1 (NF1). These benign nerve sheath tumors often cause significant morbidity, with treatment options limited historically to surgery.
Kaleb Yohay, Robert Listernick, Nicole J Ullrich   +2 more
exaly   +2 more sources

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough? [PDF]

Italian Journal of Pediatrics, 2018
Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro, Pia Bernardo, Antonietta Coppola, Umberto Pugliese, Mario Cirillo, Teresa Giugliano, Giulio Piluso, Giuseppe Cinalli, Salvatore Striano, Carmela Bravaccio, Silverio Perrotta   +10 more
doaj   +5 more sources

Cutaneous Findings in Neurofibromatosis Type 1 [PDF]

Cancers, 2021
Simple Summary Neurofibromatosis type 1 (NF1) is characterized by major and minor cutaneous findings, whose recognition plays a key role in the early diagnosis of the disease.
Bengisu Ozarslan, T. Russo, G. Argenziano, C. Santoro, V. Piccolo   +4 more
semanticscholar   +3 more sources

[Pheochromocytoma in Neurofibromatosis Type 1]. [PDF]

Probl Endokrinol (Mosk)
Neurofibromatosis type 1 is a hereditary disease with a wide variability of clinical manifestations, from the almost complete absence of typical symptoms to a multisystem lesion of the body. One of the possible clinical manifestations of this pathology is a pheochromocytoma — a tumor of the adrenal gland with the possible development of considerable ...
Rebrova DV, Loginova OI, Nepomnyashchaya SL, Bakhtiyarova AR, Rusakov VF, Krasnov LM, Fedorov EA, Chinchuk IK, Shikhmagomedov SS, Imyanitov EN, Kuleshov OV, Alekseev MA, Pridvijkina TS, Savelyeva TV, Semenov AA, Zgoda EA, Chernikov RA, Sleptsov IV.   +17 more
europepmc   +3 more sources

Hemostasis and Type 1 Neurofibromatosis

Plastic and Reconstructive Surgery, Global Open, 2017
Jeremy Niddam, MD, Catherine Matheron, MD, Simone La Padula, MD, Pierre Wolkenstein, MD, PhD, Jean-paul Meningaud, MD, PhD   +4 more
doaj   +4 more sources

Neurofibromatosis type 1 [PDF]

Journal of the American Academy of Dermatology, 2009
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While no medical therapies for NF1 are currently available, trials are ongoing to discover and test medical treatments for the ...
Kevin P, Boyd, Bruce R, Korf, Amy, Theos
openaire   +3 more sources

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in Medicine, 2021
By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).
E. Legius, L. Messiaen, P. Wolkenstein, Patrice Pancza, R. Avery, Y. Berman, J. Blakeley, D. Babovic-Vuksanovic, K. Cunha, R. Ferner, Michael Fisher, J. Friedman, D. Gutmann, H. Kehrer-Sawatzki, B. Korf, V. Mautner, S. Peltonen, K. Rauen, V. Riccardi, E. Schorry, A. Stemmer-Rachamimov, D. Stevenson, G. Tadini, N. Ullrich, D. Viskochil, K. Wimmer, K. Yohay, S. Huson, D. Evans, S. Plotkin   +29 more
semanticscholar   +1 more source

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

EClinicalMedicine, 2023
Summary Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder, predisposing development of benign and malignant tumours. Given the oncogenic potential, long-term surveillance is important in patients with NF1. Proposals for NF1 care
C. Carton, D. Evans, Ignacio Blanco, R. Friedrich, R. Ferner, S. Farschtschi, H. Salvador, A. Azizi, V. Mautner, C. Röhl, S. Peltonen, S. Stivaros, E. Legius, R. Oostenbrink, J. Brunet, F. van Calenbergh, C. Cassiman, T. Czech, María José Gavarrete de León, H. Giele, Susie M. D. Henley, C. Lázaro, Vera Lipkovskaya, E. Maher, V. Martin, I. Mathijssen, E. Opocher, A. E. Pires, T. Pletschko, Eirene Poupaki, V. Ridola, A. Rietman, T. Rosenbaum, A. Santhouse, A. Sehested, I. Simmons, W. Taal, A. Wagner   +37 more
semanticscholar   +1 more source