Results 71 to 80 of about 27,346,886 (339)
Revista de Ciencias Médicas de Pinar del Río, 2012 La neurofibromatosis tipo 1 es la enfermedad monogénica más frecuente en la especie humana. En su clasificación se describe la variante segmentaria como forma clínica especial, poco frecuente, caracterizada por máculas "café con leche" o neurofibromas ...
Miladys Orraca Castillo +1 more
doaj
A case of familial neurofibromatosis in pediatric practice
Alʹmanah Kliničeskoj Mediciny, 2018 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
Journal of Nepal Medical Association, 2022 Neurofibromatosis type 1 is a genetic disorder that follows an autosomal dominant pattern of inheritance. Ocular involvement is not uncommon, but spontaneous dialysis of the retina in the absence of a history of trauma is a rare clinical entity.
Richa Makaju Shrestha +6 more
doaj +1 more source
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
core
Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]
, 2019 Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh +76 more
core +1 more source
Cognitive and Psychosocial Phenotype of Young Children with Neurofibromatosis-1
Journal of the International Neuropsychological Society, 2013 Children with neurofibromatosis-1 (NF1), a neurodevelopmental disorder resulting from a mutation of the NF1 gene (17q11.2), often have difficulties with learning and attention, but there is little research in the early childhood years. In this study, the
Bonita P. Klein-Tasman +8 more
semanticscholar +1 more source
Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review
Clinical Anatomy, EarlyView.ABSTRACT Facial transplantation is a division of reconstructive surgery which aims to improve the function and appearance of a face that has endured severe disfigurement. Currently, the face transplant procedure uses allogenic tissue, harvested from a brain‐dead donor, to replace damaged facial components.
Olivia A. James, Faye Bennett
wiley +1 more source
Pediatric Neurology Briefs, 1987 LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj +1 more source
Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]
, 2016 This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core +1 more source
Reduced microglial CX3CR1 expression delays neurofibromatosis-1 glioma formation
Annals of Neurology, 2013 Although traditional models of carcinogenesis have largely focused on neoplastic cells, converging data have revealed the importance of non‐neoplastic stromal cells in influencing tumor growth and progression.
W. W. Pong +4 more
semanticscholar +1 more source