Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
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Title
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 23, Issue 3, Pages 317-324
Publisher
Springer Nature
Online
2014-06-18
DOI
10.1038/ejhg.2014.115
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Related references
Note: Only part of the references are listed.- Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
- (2013) Yoko Aoki et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Noonan syndrome
- (2013) Amy E Roberts et al. LANCET
- Cardiac Findings in Noonan Syndrome on Long-term Follow-up
- (2013) John L. Colquitt et al. Congenital Heart Disease
- The Crystal Structure of Human α2-Macroglobulin Reveals a Unique Molecular Cage
- (2012) Aniebrys Marrero et al. ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Noonan syndrome and clinically related disorders
- (2011) Marco Tartaglia et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects
- (2011) V. Runtuwene et al. Disease Models & Mechanisms
- Signal Integration and Coincidence Detection in the Mitogen-activated Protein Kinase/Extracellular Signal-regulated Kinase (ERK) Cascade
- (2011) Nishamol Geetha et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- 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
- Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces
- (2010) Hanka Venselaar et al. BMC BIOINFORMATICS
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
- (2009) Viviana Cordeddu et al. NATURE GENETICS
- 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
- Alpha2 Macroglobulin-Like Is Essential for Liver Development in Zebrafish
- (2008) Sung-Kook Hong et al. PLoS One
- High-resolution in situ hybridization to whole-mount zebrafish embryos
- (2007) Christine Thisse et al. Nature Protocols
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