Results 111 to 120 of about 38,036,070 (284)

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

open access: yesNeuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji   +4 more
wiley   +1 more source

Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement.

open access: yesRespiratory Medicine, 2019
Neurofibromatosis type 1 (NF-1), also known as von Recklinghausen's disease, is an autosomal dominant dysplasia of the ectoderm and mesoderm with a variable clinical expression, but near-complete penetrance before the age of 5 years.
S. F. Alves   +8 more
semanticscholar   +1 more source

Autism and attention‐deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1

open access: yesDevelopmental Medicine & Child Neurology, 2020
To evaluate if autism symptoms and diagnoses are more common in children with neurofibromatosis type 1 (NF1) than in typically developing children, to which levels, and to determine if co‐occurring attention‐deficit/hyperactivity disorder (ADHD ...
H. Morotti   +6 more
semanticscholar   +1 more source

Neurofibromatosis type 1: Surgical Perspectives

open access: yesThe Annals of African Surgery, 2011
Introduction: Neurofibromatosis type 1 (NF1) affects about 1 in 3000 people. The indications for surgical intervention in patients with NF1 are not always clear-cut.
Nthumba PM, MMed(Surg),FCS(ECSA), Plastic Surgery Fellowship   +1 more
doaj  

Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1

open access: yesClinics, 2008
OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients.
Karin Soares Gonçalves Cunha   +2 more
doaj   +1 more source

Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

open access: yesNew England Journal of Medicine, 2016
BACKGROUND Effective medical therapies are lacking for the treatment of neurofibromatosis type 1– related plexiform neurofibromas, which are characterized by elevated RAS–mitogen-activated protein kinase (MAPK) signaling.
E. Dombi   +22 more
semanticscholar   +1 more source

Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis

open access: yesJournal of Obstetric Anaesthesia and Critical Care, 2014
Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh   +4 more
doaj   +1 more source

Transoral Robotic Resection of Glossopharyngeal Neurofibroma: A Case Report

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT This case highlights the diagnostic challenges posed by rare oropharyngeal neurofibromas, their potential to mimic other conditions, and the novel application of transoral robotic surgery (TORS) for the management of an oropharyngeal neurofibroma. A 47‐year‐old female presented with a 1‐year history of a left tonsillar mass.
Cody L. Messick   +7 more
wiley   +1 more source

Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision

open access: yesJournal of neuro-ophthalmology, 2017
Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1), leading to visual deficits in fewer than half of these individuals.
P. de Blank   +6 more
semanticscholar   +1 more source

Procesos Cognitivos en la Neurofibromatosis tipo 1

open access: yes, 2019
El presente artículo tiene como objetivo identificar los factores cognitivos que inciden en la neurofibromatosis tipo 1, con el fin de establecer las características e incidencias cognitivas en los niños con dicha enfermedad, para ello se recurrió a una ...
Vargas Quimbayo, Gladys Melisa del Rosario   +1 more
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