Results 81 to 90 of about 61,555 (249)
Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]
Purpose: Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Diepold, Miriam +6 more
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Development and preliminary evaluation of the Neurofibromatosis Type 1 Adult Quality of Life (NF1‐AdQoL) questionnaire [PDF]
Hilda Crawford +7 more
openalex +1 more source
ABSTRACT This report describes a rare case of alveolar rhabdomyosarcoma initially presenting with clinical features resembling an endodontic lesion. A 15‐year‐old male presented with progressive right maxillary swelling initially treated as a dental abscess.
Saliha Akçay Köprücü +3 more
wiley +1 more source
Painful tumors in a patient with neurofibromatosis type 1: a case report
Background Herein, we report an unusual case of multifocal glomus tumors in the same hand in a patient suffering from neurofibromatosis type 1. Case presentation The patient was a 37-year-old Moroccan woman, suffering from neurofibromatosis type 1, with ...
Niema Aqil +3 more
doaj +1 more source
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato +15 more
wiley +1 more source
Occlusal traits in children with neurofibromatosis type 1 [PDF]
Literature is poor of data about the occlusion in children affected by neurofibromatosis type 1 (NF1).
Amadori, F +7 more
core +1 more source
Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association [PDF]
Hilde Brems +16 more
openalex +1 more source
Our findings indicate that a pediatric/AYA‐specific targeted panel deployed in a hospital can deliver rapid, clinically actionable molecular insights with high diagnostic and prognostic yield. This complements larger sequencing platforms by offering speed, focused content, and easier interpretation.
Masato Kojima +8 more
wiley +1 more source
A case of familial neurofibromatosis in pediatric practice
The article describes a clinical case of familial neurofibromatosis. Neurofibromatosis type 1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin +3 more
doaj +1 more source
Malignancies in Chinese patients with neurofibromatosis type 1 [PDF]
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Chan, GCF +3 more
core

