Results 111 to 120 of about 54,369 (243)
Familial segmental neurofibromatosis
, 2004 Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions.
Oguzkan, S +4 more
core +1 more source
ESTUDIO IMAGENOLÓGICO DE NEUROFIBROMATOSIS. [PDF]
, 2018 LA NEUROFIBROMATOSIS ES UNA CONDICIÓN CARACTERIZADA POR MÚLTIPLES TUMORES DERIVADOS DE LAS CÉLULAS PRIMITIVAS. ESTOS TUMORES SE PRODUCEN A LO LARGO DE LAS VÍAS NERVIOSAS Y EN CUALQUIER PARTE DEL CUERPO, ENCONTRAMOS DOS TIPOS DE NEUROFIBROMATOSIS TIPO I Y
BAQUE ALCÍVAR, CRISTOPHER DAVID
core +1 more source
Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review
Clinical Anatomy, Volume 39, Issue 8, Page 965-979, November 2026.ABSTRACT Facial transplantation is a division of reconstructive surgery which aims to improve the function and appearance of a face that has endured severe disfigurement. Currently, the face transplant procedure uses allogenic tissue, harvested from a brain‐dead donor, to replace damaged facial components.
Olivia A. James, Faye Bennett
wiley +1 more source
Incidence of Ophthalmological Complications in NF-1 Patients Treated with MEK Inhibitors
Current OncologyMEK inhibitors (MEKi) represent innovative and promising treatments for managing manifestations of neurofibromatosis type 1 (NF1). To mitigate potential ophthalmic side effects, such as MEKi-associated retinopathy (MEKAR), patients undergoing MEKi ...
Lena Hummel +4 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 5, Page 527-537, November 2026.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea
Cell Biology International, Volume 50, Issue 10, October 2026.ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco +6 more
wiley +1 more source
Intranodal Epithelioid Schwannoma in an Intraparotid Lymph Node: A Case Report and Literature Review
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT An epithelioid schwannoma arising within an intraparotid lymph node is a rare benign lesion that may mimic metastatic melanoma, metastatic carcinoma, or a primary salivary gland neoplasm. Recognizing the intranodal architecture and integrating morphology with an appropriate immunohistochemical panel are essential to avoid misclassification and
Maryam Vajihinejad +3 more
wiley +1 more source
Solitary Nodule in the Hard Palate
Oral Diseases, EarlyView.
Sara Lia Gonçalves de Lima +6 more
wiley +1 more source