Results 81 to 90 of about 38,110 (241)
Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1 [PDF]
, 2006 Background Neurofibromatosis 1 (NF1) is an autosomal dominantly inherited disorder caused by a spectrum of mutations affecting the Nf1 gene. Affected patients develop benign and malignant tumors at an increased frequency.
Edwards, Paul C. +5 more
core +1 more source
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
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
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
wiley +1 more source
Merlin Phosphorylation by p21-activated Kinase 2 and Effects of Phosphorylation on Merlin Localization [PDF]
, 2002 The Nf2 tumor suppressor gene product merlin is related to the membrane-cytoskeleton linker proteins of the band 4.1 superfamily, including ezrin, radixin, and moesin (ERMs). Merlin is regulated by phosphorylation in a Rac/cdc42-dependent fashion.
Eckman, Matthew S. +3 more
core +1 more source
Neurocognitive outcomes in neurofibromatosis clinical trials [PDF]
, 2016 Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease.
de Blank, P +14 more
core +2 more sources
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
NEUROFIBROMATOSIS TIPO I DIAGNOSTICADA EN EL EMBARAZO
Revista Chilena de Obstetricia y Ginecología, 2004 Se presenta un caso clínico de neurofibromatosis tipo I diagnosticada a las 28 semanas de embarazo con evolución materna y fetal satisfactoriaA clinical case of neurofibromatosis type I is presented with diagnosis at 28 weeks of pregnancy with ...
René Rivera Z +3 more
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Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report
Medisur, 2023 Neurofibromatosis type I or Von Recklinghausen's disease is one of the genetic diseases that affect the nervous system, named for its common embryonic origin.
Marisleidy Denis Rodríguez +3 more
doaj
Intramedullary gangliogliomas: histopathologic and molecular features of 25 cases [PDF]
, 2016 Gangliogliomas are uncommon glioneuronal tumors, which usually arise in the cerebral hemispheres and occasionally in the brain stem. Gangliogliomas occurring in the spinal cord are extremely rare. In this study, we analyzed the clinical, histopathologic,
ANTONELLI, MANILA +7 more
core +1 more source