Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden-Reference-Cited by-同舟云学术

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

Published:2010-04-01 Issue:4 Volume:11 Page:391-400
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Thomas Laura,Kluwe Lan,Chuzhanova Nadia,Mautner Victor,Upadhyaya Meena

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-010-0240-y.pdf

Reference55 articles.

1. Huson S (2008) The neurofibromatoses: classification, clinical features and genetic counselling. In: Kaufmann D (ed) Neurofibromatoses (monographs in human genetics) vol 16, 1st edn. S Karger AG, Switzerland, pp 1–20

2. Bennett E, Thomas N, Upadhyaya M (2009) Neurofibromatosis type 1: its association with the Ras/MAPK pathway syndromes. J Pediatr Neurol 7(2):105–115

3. Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44:81–88

4. Upadhyaya M (2008) NF1 gene structure and NF1 genotype/phenotype correlations. In: Kaufmann D 2008. Neurofibromatoses (Monographs in Human Genetics) 16:46–62

5. Cichowski K, Jacks T (2001) NF1 tumor suppressor gene function: narrowing the GAP. Cell 104:593–604

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A platform for rapid patient-derived cutaneous neurofibroma organoid establishment and screening;Cell Reports Methods;2024-05

2. Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?;Child's Nervous System;2022-01-08

3. Distinctive epigenomic alterations in NF1-deficient cutaneous and plexiform neurofibromas drive differential MKK/p38 signaling;Epigenetics & Chromatin;2021-01-13

4. Novel Mutation C.7348C>T in NF1 Gene Identified by Whole-Exome Sequencing in Patient with Overlapping Clinical Symptoms of Neurofibromatosis Type 1 and Bannayan–Riley–Ruvalcaba Syndrome;Cytology and Genetics;2020-07

5. Integrative Analysis Identifies Candidate Tumor Microenvironment and Intracellular Signaling Pathways that Define Tumor Heterogeneity in NF1;Genes;2020-02-21