标题
Recent advances in RASopathies
作者
关键词
-
出版物
JOURNAL OF HUMAN GENETICS
Volume 61, Issue 1, Pages 33-39
出版商
Springer Nature
发表日期
2015-10-08
DOI
10.1038/jhg.2015.114
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog
- (2015) Andreas Hahn et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Rare variants inSOS2andLZTR1are associated with Noonan syndrome
- (2015) Guilherme Lopes Yamamoto et al. JOURNAL OF MEDICAL GENETICS
- Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
- (2014) Monika Gos et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation
- (2014) Giuseppina Baldassarre et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Further evidence of the importance ofRIT1in Noonan syndrome
- (2014) Débora R. Bertola et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- (2014) Lisenka ELM Vissers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome
- (2014) Shin-ichi Inoue et al. HUMAN MOLECULAR GENETICS
- Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
- (2014) E. Flex et al. HUMAN MOLECULAR GENETICS
- Comprehensive molecular profiling of lung adenocarcinoma
- (2014) Eric A. Collisson et al. NATURE
- Oncogenic RIT1 mutations in lung adenocarcinoma
- (2014) A H Berger et al. ONCOGENE
- Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
- (2014) M. E. M. Pierpont et al. PEDIATRICS
- 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
- 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 RASopathies
- (2013) Katherine A. Rauen Annual Review of Genomics and Human Genetics
- RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
- (2013) Nicole Revencu et al. HUMAN MUTATION
- Anti-Alpha-2-Macroglobulin-Like-1 Autoantibodies Are Detected Frequently and May Be Pathogenic in Paraneoplastic Pemphigus
- (2013) Sanae Numata et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies
- (2013) I Gómez-Seguí et al. LEUKEMIA
- 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
- Review and update ofSPRED1mutations causing legius syndrome
- (2012) Hilde Brems et al. HUMAN MUTATION
- PTPN11-Associated Mutations in the Heart: Has LEOPARD Changed Its RASpots?
- (2012) Jessica Lauriol et al. TRENDS IN CARDIOVASCULAR MEDICINE
- Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome
- (2011) Angela E. Lin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
- (2011) Judith E. Allanson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies
- (2011) Katherine A. Rauen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation
- (2011) Xue Wu et al. JOURNAL OF CLINICAL INVESTIGATION
- Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation
- (2011) Talita M. Marin et al. JOURNAL OF CLINICAL INVESTIGATION
- Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
- (2010) Simone Martinelli et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
- (2010) Tomoko Kobayashi et al. HUMAN MUTATION
- Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation
- (2010) Peng-Chieh Chen et al. JOURNAL OF CLINICAL INVESTIGATION
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- (2010) Shoko Komatsuzaki et al. JOURNAL OF HUMAN GENETICS
- Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia
- (2010) B. Perez et al. JOURNAL OF MEDICAL GENETICS
- Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
- (2010) Charlotte M Niemeyer et al. NATURE GENETICS
- Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
- (2010) A. A. Romano et al. PEDIATRICS
- The Protease Inhibitor Alpha-2-Macroglobuline-Like-1 Is the p170 Antigen Recognized by Paraneoplastic Pemphigus Autoantibodies in Human
- (2010) Isabelle Schepens et al. PLoS One
- The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
- (2009) William E Tidyman et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
- (2009) Anna Sarkozy et al. HUMAN MUTATION
- Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
- (2009) Viviana Cordeddu et al. NATURE GENETICS
- A restricted spectrum of NRAS mutations causes Noonan syndrome
- (2009) Ion C Cirstea et al. NATURE GENETICS
- The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
- (2008) Yoko Aoki et al. HUMAN MUTATION
- Effect of Simvastatin on Cognitive Functioning in Children With Neurofibromatosis Type 1
- (2008) Lianne C. Krab JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Binding of α2ML1 to the Low Density Lipoprotein Receptor-Related Protein 1 (LRP1) Reveals a New Role for LRP1 in the Human Epidermis
- (2008) Marie-Florence Galliano et al. PLoS One
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