Results 71 to 80 of about 24,238,809 (267)
Brain Pathology, 1997 Neurofibromatosis (NF) 1 and 2 are multisystem disorders associated with a variety of neoplastic and non‐neoplastic manifestations that typically progress in severity during the lifetime of the affected patient. The importance of appropriately diagnosing these disorders stems from the fact that the natural history of an associated neoplasm, such as a ...
I F, Pollack, J J, Mulvihill
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Brain Pathology, EarlyView.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
Development and preliminary evaluation of the Neurofibromatosis Type 1 Adult Quality of Life (NF1‐AdQoL) questionnaire [PDF]
, 2021 Hilda Crawford +7 more
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Cancer Science, EarlyView.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
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Neurofibromatose tipo 1 - uma evolução maligna em idade pediátrica.
Acta Médica Portuguesa, 2010 Neurofibromatosis type 1 is an autosomal dominant disease affecting one in 3000 to one in 4000 people, with a great variability of clinical expression.
Sérgia Soares +4 more
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JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler +8 more
wiley +1 more source
Supplementary Table 2 from Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association [PDF]
, 2023 Hilde Brems +16 more
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Mosaic neurofibromatosis type 1
Dermatology Online Journal, 2008 A 24-year-old man presented with numerous lentigines and multiple cafe-au-lait macules on both sides of the face, neck, and trunk as well as on the proximal area of the upper extremities and in the axillae. The pigmented lesions had a Blaschko-linear distribution on the upper trunk and were limited to the left side of the abdomen, with a sharp ...
Liang, Christine, Schaffer, Julie V
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Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4
Kristina M. Haebich +6 more
wiley +1 more source
Orbitotemporal Neurofibromatosis: Case Report
Case Reports in Ophthalmological Medicine, 2012 Plexiform neurofibromas occur in about 60% of neurofibromatosis type 1(NF-1) patients and can lead to severe morbidity by disfigurement or compression of vital structures. Moreover, these tumors can undergo malignant transformation.
Mahalakshmi Balasubramanyam +2 more
doaj +1 more source