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