Results 31 to 40 of about 55,376 (256)
Pulsating Enophthalmos in Neurofibromatosis Type 1
Medicine Science, 2015 Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with multisystem involvement, especially the central nervous system, eyes, and skin. In this article, we describe a patient with NF-1 with radiologically-imaged sphenoid wing aplasia that led ...
Yildiray Yildirim +4 more
doaj +1 more source
Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]
, 2020 Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J +11 more
core +2 more sources
MRI Analysis of Neurofibromatosis Type 1
Pediatric Neurology Briefs, 1998 Serial MRI scans of 30 patients (mean age, 12 years) with neurofibromatosis Type 1 (NF-1) showed the evolution of high-signal brain lesions in a prospective study at the University of Connecticut Health Center, Farmington, and Children’s Medical Center ...
J Gordon Millichap
doaj +1 more source
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
openaire +4 more sources
Lisch Nodules in Neurofibromatosis Type 1
Pediatric Neurology Briefs, 1991 The prevalence of Lisch nodules among 167 patients with neurofibromatosis 1 is reported from the Department of Pediatrics, Genetics Division, Miami Children’s Hospital, Miama, FL.
J Gordon Millichap
doaj +1 more source
MedCommNeurofibromatosis type 1 (NF1) is characterized by the development of benign plexiform neurofibromas (PNFs). In 10%–15% of patients, these tumors undergo malignant transformation into aggressive malignant peripheral nerve sheath tumors (MPNSTs).
Ling‐Ling Ge +11 more
doaj +1 more source
Learning Disabilities in Neurofibromatosis Type 1
Pediatric Neurology Briefs, 2006 The frequency of specific leaning disabilities (SLD) in neurofibromatosis type 1 (NF1) was determined in a cohort of 81 patients (43 males, 38 females; mean age 11 years 6 months; age range 8-16) followed at Children's Hospital, Westmead, NSW, Australia.
J Gordon Millichap
doaj +1 more source
Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]
, 2013 Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO +6 more
core +2 more sources
Neurofibromatosis: Types 1 and 2 [PDF]
American Journal of Neuroradiology, 2013 Neurofibromatosis types 1 and 2 are a group of neurocutaneous syndromes resulting from disorders in cell regulation. Despite sharing a common name, neurofibromatosis types 1 and 2 are quite distinct phakomatoses, both clinically and genetically.
S, Borofsky, L M, Levy
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács +8 more
wiley +1 more source