Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
出版年份 2020 全文链接
标题
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
作者
关键词
-
出版物
BMC Medical Genetics
Volume 21, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-03-12
DOI
10.1186/s12881-020-0986-5
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。- Achondroplasia: a comprehensive clinical review
- (2019) Richard M. Pauli Orphanet Journal of Rare Diseases
- Structural, Functional, and Clinical Characterization of a NovelPTPN11Mutation Cluster Underlying Noonan Syndrome
- (2017) Luca Pannone et al. HUMAN MUTATION
- Hotspots in PTPN11 gene among Indian children with Noonan syndrome
- (2017) Dhanya Lakshmi Narayanan et al. INDIAN PEDIATRICS
- Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway
- (2016) Judith E. Allanson AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair
- (2016) Karen W. Gripp et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations
- (2016) Tahir Atik et al. INDIAN JOURNAL OF PEDIATRICS
- Pragmatic language impairment in children with Noonan syndrome
- (2016) Magnhild Selås et al. CLINICAL LINGUISTICS & PHONETICS
- New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations
- (2015) M. Čizmárová et al. ANNALS OF HUMAN GENETICS
- SHP2 sails from physiology to pathology
- (2015) Mylène Tajan et al. European Journal of Medical Genetics
- Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)
- (2014) Wei Qiu et al. BMC STRUCTURAL BIOLOGY
- Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice
- (2013) P. E. Lapinski et al. Disease Models & Mechanisms
- Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings
- (2013) Ellen A Croonen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome
- (2013) Fernando A. Rodríguez et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Clinical and molecular analysis of RASopathies in a group of Turkish patients
- (2012) PÖ Şimşek-Kiper et al. CLINICAL GENETICS
- Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome
- (2012) Mona L. Essawi et al. JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
- Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
- (2012) A. D. R. Serra-Nedelec et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Noonan syndrome and clinically related disorders
- (2011) Marco Tartaglia et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment
- (2011) Anna Papadopoulou et al. EUROPEAN JOURNAL OF PEDIATRICS
- Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
- (2011) Margot E. Bowen et al. PLoS Genetics
- 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
- PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes
- (2010) Amanda Salem Brasil et al. Genetic Testing and Molecular Biomarkers
- Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
- (2010) Charlotte M Niemeyer et al. NATURE GENETICS
- Growth in Noonan Syndrome
- (2009) B.J. Otten et al. HORMONE RESEARCH
- 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
- Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation
- (2009) T. Araki et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Clinical and molecular characterization of 40 patients with Noonan syndrome
- (2008) Giovanni Battista Ferrero et al. European Journal of Medical Genetics
- Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?
- (2008) R. Raaijmakers et al. EUROPEAN JOURNAL OF PEDIATRICS
- Genotype differences in cognitive functioning in Noonan syndrome
- (2008) E. I. Pierpont et al. GENES BRAIN AND BEHAVIOR
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome
- (2008) Jung Min Ko et al. JOURNAL OF HUMAN GENETICS
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