Results 31 to 40 of about 15,366 (199)
Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland
, 2020 The main goal of this study was to draw the attention of physicians to commonly undisclosed risk of breast cancer (BrCa) in women suffering from neurofibromatosis type 1 (NF-1), which is 5-fold higher than in the general population.
Marek W. Karwacki
core +1 more source
Influence of cellular models and individual factor in the biological response to chest CT scan exams
European Radiology Experimental, 2022 Background While computed tomography (CT) exams are the major cause of medical exposure to ionising radiation, there is increasing evidence that the potential radiation-induced risks must be documented.
Clément Devic +10 more
doaj +1 more source
New insights into the molecular basis of spinal neurofibromatosis type 1 [PDF]
, 2023 Spinal neurofibromatosis (SNF) is a form of neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas involving all spinal roots. The pathogenic mechanisms determining the SNF form are currently unknown.
Eoli, Marica +27 more
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Manejo quirúrgico de malformaciones del pie por neurofibromatosis tipo 1. Reporte de caso
Revista Colombiana de Ortopedia y TraumatologíaIntroducción. La neurofibromatosis (NF) es un síndrome neurocutáneo que puede afectar diferentes órganos y sistemas. Esta es una enfermedad huérfana-rara y su manejo representa un desafío clínico. Presentación del caso. Mujer de 33 años con malformación
Nathaly Patiño-Vargas +5 more
doaj +1 more source
Tightly linked markers for the neurofibromatosis type 1 gene
Genomics, 1987 Relationships among genetic markers in the region of the neurofibromatosis type 1 (NF1) gene on chromosome 17 were investigated by linkage studies in a large sample set of affected families and in a panel of 58 normal families. A new marker, pHHH202 (D17S33), was included along with two markers known to be closely linked to NF.
Ray White +12 more
openaire +2 more sources
, 2022 Neurological phenotypes such as intellectual disability occur in almost half of patients with neurofibromatosis 1 (NF1). Current genotype–phenotype studies have failed to reveal the mechanism underlying this clinical variability.
Wang, Jian +11 more
core +1 more source
The RASopathies: from pathogenetics to therapeutics
Disease Models & Mechanisms, 2022 The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron +2 more
doaj +1 more source
A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene [PDF]
The American Journal of Human Genetics, 1998 Spinal neurofibromatosis (SNF) has been considered to be an alternative form of neurofibromatosis in which spinal cord tumors are the main clinical characteristic. Familial SNF has been reported, elsewhere, in three families-two linked to markers within the gene for neurofibromatosis type 1 (NF1) and the other not linked to NF1-but no molecular ...
Ars, Elisabet +8 more
openaire +2 more sources
Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes
Cardiogenetics, 2014 RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation.
Rita Gravino, Giuseppe Pacileo
doaj +1 more source
Genetic interactions between neurofibromin and endothelin receptor B in mice. [PDF]
PLoS ONE, 2013 When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose.
Mugdha Deo +2 more
doaj +1 more source