Last Posted: Oct 18, 2019
- Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier Camille et al. Neuro-oncology 2018 20(7) 917-929
- Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Rosset Clévia, et al. Expert review of molecular diagnostics 2018 4 1-10
- Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
Pasmant E et al. Neuro-Chirurgie 2018 Nov 64(5) 335-341
- Genetic Severity Score predicts clinical phenotype in NF2.
Halliday Dorothy et al. Journal of medical genetics 2017 Aug
- Genetic landscape of sporadic vestibular schwannoma.
Håvik Aril Løge, et al. Journal of neurosurgery 2017 4 1-12
- Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
Smith Miriam J, et al. Neurology 2016 11
- Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.
Chen Ying-Bei, et al. Nature communications 2016 10 13131
- Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith Miriam J, et al. Neurology 2015 1 (2) 141-7
- SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith Miriam J, et al. Cancer genetics 2014 9 (9) 373-8
- The CCND1 G870A gene polymorphism and brain tumor risk: a meta-analysis.
Qin Ling-Yan, et al. Asian Pacific journal of cancer prevention : APJCP 2014 0 (8) 3607-12
- Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas.
de Vries Maurits, et al. Virchows Archiv : an international journal of pathology 2013 2 (2) 211-7
- BRAF V600E and KRAS G12S mutations in peripheral nerve sheath tumours.
Serrano César, et al. Histopathology 2013 2 (3) 499-504
- DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma.
Rajaraman Preetha, et al. Neuro-oncology 2010 1 (1) 37-48
- Further genotype-phenotype correlations in neurofibromatosis 2.
Selvanathan SK, et al. Clinical genetics 2009 12
- Further genotype--phenotype correlations in neurofibromatosis 2.
Selvanathan S K, et al. Clinical genetics 2010 2 (2) 163-70
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- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.