Results 71 to 80 of about 25,703 (229)
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Considerations for development of therapies for cutaneous neurofibroma
Neurology, 2018 Objective The only therapies currently available for cutaneous neurofibromas (cNF) are procedural. The goals of the Therapies Development Working Group were to (1) summarize currently available treatment options for cNF, (2) define key considerations for
S. Verma +7 more
semanticscholar +1 more source
A 67‐year‐old man with a spinal extramedullary mass
Brain Pathology, EarlyView.
Marcella Callea +3 more
wiley +1 more source
ChemistryOpen, Volume 15, Issue 9, September 2026.Three benzimidazolium derivatives bearing fluoro, chloro, and methoxy substituents are synthesized and evaluated for anticancer activity. Compound 2b shows the highest antiproliferative activity and induces apoptosis through caspase‐3 activation and PARP1 cleavage. In this study, three novel benzimidazolium derivatives (2a–c) bearing 4‐fluoro, 3‐chloro,
Gulay Dilek, Senem Akkoc
wiley +1 more source
Isolated neurofibroma of the eyelid mimicking recurrent chalazion
Indian Journal of Ophthalmology, 2018 Neurofibroma is a peripheral nerve sheath tumor which is seen in neurofibromatosis type 1 and is characterized by various ophthalmic manifestations. Solitary neurofibroma of the eyelid is rare.
H Vijaya Pai +2 more
doaj +1 more source
Intraosseous Neurofibroma of the Mandible: A Case Report and Review of Literature.
Journal of clinical and diagnostic research : JCDR, 2017 Neurofibroma (NF) is a benign tumor of the peripheral nervous system. Head and neck NF are generally located in the soft tissue. The tumour is rarely seen intraosseously and most commonly such tumours are seen as solitary lesions, rather than part of ...
Bindiya Narang +4 more
semanticscholar +1 more source
A 3‐year‐old girl with a left optic nerve tumor
Brain Pathology, EarlyView.
Samuel López Muñoz +10 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Scalp Neurofibroma Presenting with Hematoma After Trauma
Haseki Tıp Bülteni, 2019 Neurofibromatosis (NF) type 1 is a hereditary, autosomal dominant neurocutaneous syndrome often accompanied by diffuse neurofibromas in the body, increased skin pigmentation (cafe-au-Iait spots) and central nervous system tumors. Neurofibromas are tumors
Şevki Gök +2 more
doaj +1 more source
Delayed rectifier K currents in NF1 Schwann cells
Neurobiology of Disease, 2003 K+ (K) currents are related to the proliferation of many cell types and have a relationship to second messenger pathways implicated in regulation of the cell cycle in development and certain disease states.
Lynne A Fieber +3 more
doaj +1 more source