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Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma
American Journal of Medical Genetics Part A, 2002AbstractNeurofibromatosis type 1 (NF1) patients are susceptible to tumor development. In the present study we describe a child with NF1 and disseminated neuroblastoma whose death resulted from disease progression. The mother had café‐au‐lait spots suggesting a familial NF1.
Paola, Origone +5 more
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NF1 Gene Structure and NF1 Genotype/Phenotype Correlations
2008Neurofibromatosis type 1 (NF1, MIM 162200) is a complex disorder that affects many cell types and involves multiple body systems.
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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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2012
Technological innovations continue to provide investigators with an ever-expanding toolkit for the manipulation of biological systems and the assessment of physiological state. Central to these advances has been the emergence of animal models that accurately recapitulate human disease. These tools have proven invaluable in the transformation of medical
Arun Padmanabhan, Jonathan A. Epstein
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Technological innovations continue to provide investigators with an ever-expanding toolkit for the manipulation of biological systems and the assessment of physiological state. Central to these advances has been the emergence of animal models that accurately recapitulate human disease. These tools have proven invaluable in the transformation of medical
Arun Padmanabhan, Jonathan A. Epstein
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Severe Phenotype in Patients with Large Deletions of NF1
Cancers, 2021Dominique Vidaud +2 more
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