Results 91 to 100 of about 44,772 (247)
Audiological Characteristics in Vestibular Schwannoma Patients
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Objective Vestibular schwannoma (VS) is a benign tumor that originates from the Schwann cells of the vestibular nerve sheath in the internal auditory canal. This retrospective study collected data from patients with VS who underwent surgical treatment to identify their demographic characteristics and audiometric features.
Shan Zeng +4 more
wiley +1 more source
ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO
Revista Chilena de Obstetricia y Ginecología, 2002 La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M. +2 more
doaj
Neurofibromatosis tipo 1. Revision bibliográfica [PDF]
, 2006 La Neurofibromatosis es una entidad clínica que se clasifica dentro del grupo de las Facomatosis, esuna enfermedad dominante autosomal caracterizada por el crecimiento desordenado de tejidos finosectodérmicos que producen lesiones cutáneas ...
Río Ysla, Maily del +2 more
core +1 more source
Transoral Robotic Resection of Glossopharyngeal Neurofibroma: A Case Report
World 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
Orbitotemporal Neurofibromatosis: Case Report
Case Reports in Ophthalmological Medicine, 2012 Plexiform neurofibromas occur in about 60% of neurofibromatosis type 1(NF-1) patients and can lead to severe morbidity by disfigurement or compression of vital structures. Moreover, these tumors can undergo malignant transformation.
Mahalakshmi Balasubramanyam +2 more
doaj +1 more source
Targeting KRAS for cancer therapy
British Journal of Pharmacology, EarlyView.In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia +4 more
wiley +1 more source
, 2009 Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the ...
Gerber PA +7 more
core +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics
Clinical Genetics, EarlyView.The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree +18 more
wiley +1 more source
Clinical Genetics, EarlyView.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