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NF1 tanısı almış hastalarda NF1 mutasyonlarının taranması
2020ÖZET Terzi YK, NF1 tanısı almış hastalarda NF1 mutasyonlarının taranması, Hacettepe Üniversitesi Sağlık Bilimleri Enstitüsü Tıbbi Biyoloji Programı Yüksek Lisans Tezi, Ankara, 2004. Nörofîbromatozis tip 1 (NF1), veya `von Recklinghausen` hastalığı 1/3000-4000'de bir görülen, en yaygın otozomal dominant hastalıklardan biridir.
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A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors.
American journal of human genetics, 1997Neurofibromatosis type I (NF1) is a common disorder that predisposes to neoplasia in tissues derived from the embryonic neural crest. The NF1 gene encodes a tumor suppressor that most likely acts through the interaction of its GTPase-activating protein (GAP)-related domain (GRD) with the product of the ras protooncogene. We have previously identified a
A J, Cappione, B L, French, G R, Skuse
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Spectrum of NF1 variants in Portugal and implementation of NF1 RNA-based approach
2023A Neurofibromatose tipo 1 (NF1) é uma das doenças genéticas autossómicas dominantes mais comuns, e é causada por variantes que inativam o gene NF1. As características mais marcadas desta doença crónica progressiva são o desenvolvimento de neurofibromas benignos, bem como de manchas café com leite, efélides axilares e inguinais, nódulos de Lisch, glioma
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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
Human Mutation, 2010Bertrand Isidor +2 more
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