Results 21 to 30 of about 15,329 (164)
Multimodality Imaging Features of Breast Carcinoma in Women with Neurofibromatosis Type 1 (NF 1) – A Report of Two Cases [PDF]
Middle East Journal of Cancer, 2021 With a prevalence of approximately 1 out of 2,500 to 4,000 births, neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans.
Wai Chan +5 more
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Mouse Models of Neurofibromatosis 1 and 2
Neoplasia: An International Journal for Oncology Research, 2002 The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
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Identification of the neurofibromatosis type 1 gene product. [PDF]
Proceedings of the National Academy of Sciences, 1991 The gene for neurofibromatosis type 1 (NF1) was recently identified by positional cloning. The complete cDNA encodes a polypeptide of 2818 amino acids. To study the NF1 gene product, antibodies were raised against both fusion proteins and synthetic peptides.
D H, Gutmann, D L, Wood, F S, Collins
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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
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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
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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
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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
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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
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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
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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
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