相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
Yoko Aoki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
ACMG clinical laboratory standards for next-generation sequencing
Heidi L. Rehm et al.
GENETICS IN MEDICINE (2013)
Novel strategies for classifying splice-site variants of unknown clinical significance inCFTR
Catherine Costa
HUMAN MUTATION (2013)
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
Michael A. Quail et al.
BMC GENOMICS (2012)
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations
Karen W. Gripp et al.
GENETICS IN MEDICINE (2012)
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair
Giovanni Battista Ferrero et al.
HUMAN MUTATION (2012)
Development of a Next-Generation Sequencing Method for BRCA Mutation Screening A Comparison between a High-Throughput and a Benchtop Platform
Maurice Chan et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2012)
Assuring the quality of next-generation sequencing in clinical laboratory practice
Amy S. Gargis et al.
NATURE BIOTECHNOLOGY (2012)
Consensus Rules in Variant Detection from Next-Generation Sequencing Data
Peilin Jia et al.
PLOS ONE (2012)
Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype
Sara Ekvall et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Prenatal features of Noonan syndrome: prevalence and prognostic value
G. Baldassarre et al.
PRENATAL DIAGNOSIS (2011)
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
Marco Tartaglia et al.
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
Amanda Salem Brasil et al.
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA (2010)
A standardized framework for the validation and verification of clinical molecular genetic tests
Christopher J. Mattocks et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Alicia A. Romano et al.
PEDIATRICS (2010)
RASopathies: Clinical Diagnosis in the First Year of Life
M. C. Digilio et al.
MOLECULAR SYNDROMOLOGY (2010)
Functional Annotations Improve the Predictive Score of Human Disease-Related Mutations in Proteins
Remo Calabrese et al.
HUMAN MUTATION (2009)
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu et al.
NATURE GENETICS (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
Noonan, Costello and cardio–facio–cutaneous syndromes: dysregulation of the Ras–MAPK pathway
William E. Tidyman et al.
EXPERT REVIEWS IN MOLECULAR MEDICINE (2008)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
Noonan and cardio-facio-cutaneous syndromes:: two clinically and genetically overlapping disorders
A.-M. Nystrom et al.
JOURNAL OF MEDICAL GENETICS (2008)
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
A. L. Schulz et al.
CLINICAL GENETICS (2008)
Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway:: genotype-phenotype relationships and overlap with Costello syndrome
Caroline Nava et al.
JOURNAL OF MEDICAL GENETICS (2007)
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Bhaswati Pandit et al.
NATURE GENETICS (2007)
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
P Rodriguez-Viciana et al.
SCIENCE (2006)
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
MC Digilio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
PTPN11 mutations in Noonan syndrome:: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
M Tartaglia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
The effect of sex and age on facial asymmetry in healthy subjects: A cross-sectional study from adolescence to mid-adulthood
VF Ferrario et al.
JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY (2001)