Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

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