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Title
Rare variants inSOS2andLZTR1are associated with Noonan syndrome
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 52, Issue 6, Pages 413-421
Publisher
BMJ
Online
2015-03-21
DOI
10.1136/jmedgenet-2015-103018
References
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Related references
Note: Only part of the references are listed.- Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants
- (2014) Sonja Hutter et al. ACTA NEUROPATHOLOGICA
- Further evidence of the importance ofRIT1in Noonan syndrome
- (2014) Débora R. Bertola et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Expanding the mutational spectrum of LZTR1 in schwannomatosis
- (2014) Irene Paganini et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
- (2014) M. J. Smith et al. NEUROLOGY
- Next-generation sequencing identifies rare variants associated with Noonan syndrome
- (2014) P.-C. Chen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11
- (2014) Jin-Lan Chen et al. Molecular Cytogenetics
- Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
- (2013) Yoko Aoki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The integrated landscape of driver genomic alterations in glioblastoma
- (2013) Veronique Frattini et al. NATURE GENETICS
- Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
- (2013) Arkadiusz Piotrowski et al. NATURE GENETICS
- Identifying the Ubiquitin Ligase Complex That Regulates the NF1 Tumor Suppressor and Ras
- (2013) P. E. Hollstein et al. Cancer Discovery
- Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms
- (2011) Steven L. Carroll ACTA NEUROPATHOLOGICA
- Understanding SOS (Son of Sevenless)
- (2011) Stéphane Pierre et al. BIOCHEMICAL PHARMACOLOGY
- Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?
- (2011) DR Bertola et al. CLINICAL GENETICS
- SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
- (2011) Francesca Lepri et al. HUMAN MUTATION
- PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes
- (2010) Amanda Salem Brasil et al. Genetic Testing and Molecular Biomarkers
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
- (2010) A. A. Romano et al. PEDIATRICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
- (2009) William E Tidyman et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
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