Results 51 to 60 of about 24,332 (187)
Biphenotypic Sinonasal Sarcoma-Case Report and Review of Clinicopathological Features and Diagnostic Modalities. [PDF]
, 2019 Background Biphenotypic sinonasal sarcoma is a recently described malignancy showing dual differentiation with both myogenic and neural elements. Due to its histologic similarities to other sinonasal malignancies, it is a diagnostic challenge.
Chitguppi, Chandala +6 more
core +2 more sources
Pharmacogenomics and Personalized Medicine, 2022 Lina Perafan-Valdes,1,2 Sebastian Giraldo-Ocampo,3 Juliana Lores,2 Harry Pachajoa2,4 1Universidad Libre, Programa de Maestría en Epidemiología, Cali, Colombia; 2Fundación Valle del Lili, Genetics Division, Cali, Colombia; 3Universidad del Valle ...
Perafan-Valdes L +3 more
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Emerging genotype-phenotype relationships in patients with large NF1 deletions. [PDF]
, 2017 The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions).
Cooper, David N +2 more
core +2 more sources
Anais Brasileiros de Dermatologia, 2013 Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous ...
João Roberto Antônio +2 more
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An ShRNA Screen Identifies MEIS1 as a Driver of Malignant Peripheral Nerve Sheath Tumors
EBioMedicine, 2016 Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue sarcomas that are a major source of mortality in neurofibromatosis type 1 (NF1) patients.
Ami V. Patel +5 more
doaj +1 more source
Neurofibromatosis type 1, from gene mutation to clinical presentation
Rwanda Medical Journal, 2023 Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the followingcriteria: six or more café au lait spots, >2 neurofibromas of any type, freckling in the axillary oringuinal region, optic glioma, a distinctive osseous lesion such as
N. Dukuze +9 more
openaire +4 more sources
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1
Molecular Genetics & Genomic Medicine, 2020 Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum ...
Leora Witkowski +4 more
doaj +1 more source
Telomere erosion in NF1 tumorigenesis [PDF]
, 2017 Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion.
Baird, Duncan +4 more
core +2 more sources
The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene [PDF]
Genomics, 1992 Recently the M17S1 gene, encoding an epidermal antigen thought to play a role in cell adhesion, was mapped to chromosome bands 17q11-q12, placing it in the vicinity of the gene for the genetic disorder neurofibromatosis 1 (NF1). The pleomorphic cutaneous lesions of NF1 and the precedent for other genes being embedded within the NF1 gene prompted us to ...
Kayes, Lucille M. +6 more
openaire +3 more sources
Embarazada con neurofibromatosis tipo 1
Revista de Ciencias Médicas de Pinar del Río, 2016 La neurofibromatosis tipo 1 es una enfermedad genética, de transmisión autosómica, dominante, con 100% de penetrancia y expresividad variable, correspondiendo la mitad de los casos a mutaciones de novo.
Amado Antonio García Odio +3 more
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