Results 81 to 90 of about 15,366 (199)
In Reply: Type 1 Neurofibromatosis Gene: Correction [PDF]
Science, 1990 M. R. Wallace +3 more
openaire +2 more sources
Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1 [PDF]
The Journal of Pediatrics, 2015 Beth A, Pletcher, Caroline, Hayes-Rosen
openaire +2 more sources
Molecular genetic analysis of paediatric low-grade astrocytoma
, 2010 The thesis describes the molecular genetic analysis of fifty low-grade paediatric astrocytomas. DNA copy number changes were investigated in paediatric low-grade astrocytomas (WHO grade I and II), using array comparative genomic hybridisation and ...
Tatevossian, R.G.
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, 2018 Neurofibromatosis type-1 is a familial genetic syndrome associated with a predisposition to develop peripheral and central nervous system neoplasms. We have previously reported on a subset of gliomas developing in these patients with morphologic features
Palsgrove D. N. +11 more
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Роль эпигенетических факторов в патогенезе нейрофиброматоза 1-го типа
, 2017 The article describes the role of epigenetic processes in the tumorigenesis of neurofibromatosis type 1. The clinical manifestations of neurofibromatosis type 1 is characterized by a pronounced polymorphism erased from with single neurofibromas to severe
R. N. Mustafin +3 more
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Targeting Hippo-YAP Signaling in Neurofibromatosis type 1 and Neurofibromatosis type 2 Tumors
, 2019 Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are both autosomal dominant tumor disorders that are caused by mutations in different genes. Individuals with NF1 develop neurofibromas and Malignant Peripheral Nerve Sheath Tumors (MPNSTs)
Field, Jeffrey Michael, Prof. +1 more
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Neurofibromatosis Generalities and Clinical Manifestations; a Bibliographic Review
La neurofibromatosis entra dentro de la categoría de alteraciones genéticas de carácter multisistémico las cuales influyen en el desarrollo durante la vida fetal.
Hinojoza Remache, Ruth Alexandra +3 more
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BMC Medical GenomicsAbout 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low ...
Laurence Pacot +8 more
doaj +1 more source
Position effect and of modifier Ras pathway genes in Neurofibromatosis type I microdeletion syndrome
, 2022 Introduction: Neurofibromatosis type1(NF1) microdeletion syn- drome (MD)accounting for 5-11% of NF1 patients is characterized by a severe phenotype.70% of patients show the 1.4 Mb type1 deletion and variable expressivity of the phenotype suggesting the ...
M. Volontè +13 more
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Ocurrencia simultánea de neurofibromatosis y esclerosis tuberosa, adquiridas como neomutaciones [PDF]
, 2008 Introducción. La neurofibromatosis tipo 1 y la esclerosis tuberosa son dos síndromes neurocutáneos distintos, resultado de la mutación de genes supresores tumorales, que aumentan la propensión a la génesis tumoral.
Janeiro, P +4 more
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