Results 31 to 40 of about 1,786 (148)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, Volume 16, Issue 4, Page 803-813, April 2026.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Emerging genotype-phenotype relationships in patients with large NF1 deletions. [PDF]

, 2017
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions).
Cooper, David N, Kehrer‑Sawatzki, Hildegard, Mautner, Victor‑Felix   +2 more
core   +2 more sources

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +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

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

Cervical Intranodal Schwannoma and Its Malignant Transformation: A Case Report With Literature Review

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT This case report highlights a rare malignant transformation of a cervical intranodal schwannoma in a 46‐year‐old man. The patient first came in with a slow‐growing, painless nodule in the right neck. Surgical excision was performed and histopathological examinations revealed a benign intranodal cellular schwannoma.
Shahab Hussain, Zia Ullah Khan, Nazneen Liaqat, Syed Wajihullah Shah, Kainat Khan, Jibran Ikram   +5 more
wiley   +1 more source

Síndrome de moyamoya associada a neurofibromatose tipo I em paciente pediátrico [PDF]

, 2011
CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range ...
DARRIGO JÚNIOR, Luiz Guilherme, MACHADO, André de Aboim, SANTOS, Antonio Carlos dos, SCRIDELI, Carlos Alberto, TONE, Luiz Gonzaga, VALERA, Elvis Terci   +5 more
core   +1 more source

Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision‐making processes

Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision‐making and pregnancy care particularly complex. While previous research has focused largely on clinical outcomes, little is known about how healthcare professionals (HCPs) provide care and ...
Gamze Kaplan, Debbie M. Smith, Ming Wai Wan, Emma Burkitt‐Wright, Shruti Garg   +4 more
wiley   +1 more source

Evolutionary dynamics of insertion sequences in relation to the evolutionary histories of the chromosome and symbiotic plasmid genes of Rhizobium etli populations [PDF]

, 2010
Insertion sequences (IS) are mobile genetic elements that are distributed in many prokaryotes. In particular, in the genomes of the symbiotic nitrogen-fixing bacteria collectively known as rhizobia, IS are fairly abundant in plasmids or chromosomal ...
Bustos, Patricia, Davila, Guillermo, Gonzalez, Victor, Hernandez-Gonzalez, Ismael, Lozano, Luis, Santamaria, Rosa I., Souza, Valeria, Young, J. Peter W.   +7 more
core   +2 more sources

Reporte de familias con neurofibromatosis y otras enfermedades genéticas Reports of families suffering from neurofibromatosis and other genetic disorders

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
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