Adult mice expressing aBrafQ241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype

The perinatal presentation of cardiofaciocutaneous syndrome

(2014) Kara N. Wong Ramsey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Teratogenicity of asbestos in mice

(2014) Tomoko Fujitani et al.   JOURNAL OF TOXICOLOGICAL SCIENCES

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2014) M. E. M. Pierpont et al.   PEDIATRICS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Hesr2 Knockout Mice Develop Aortic Valve Disease With Advancing Age

(2013) Hiroki Kokubo et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

(2012) Yu Abe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental Toxicity Study of Lersivirine in Mice

(2012) Gregg D. Cappon et al.   BIRTH DEFECTS RESEARCH PART B-DEVELOPMENTAL AND REPRODUCTIVE TOXICOLOGY

Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish

(2012) C. Anastasaki et al.   Disease Models & Mechanisms

The intermediate-activity L597VBRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway

(2012) C. Andreadi et al.   GENES & DEVELOPMENT

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

Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

(2011) Talita M. Marin et al.   JOURNAL OF CLINICAL INVESTIGATION

P301S Mutant Human Tau Transgenic Mice Manifest Early Symptoms of Human Tauopathies with Dementia and Altered Sensorimotor Gating

(2011) Hiroki Takeuchi et al.   PLoS One

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

(2011) J. Urosevic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

(2010) Elizabeth I. Pierpont et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bone resorption in syndromes of the Ras/MAPK pathway

(2010) DA Stevenson et al.   CLINICAL GENETICS

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

(2009) William E Tidyman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors

(2009) C. Anastasaki et al.   HUMAN MOLECULAR GENETICS

GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

(2009) Anna Sarkozy et al.   HUMAN MUTATION

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

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION

Effect of low dose of vinclozolin on reproductive tract development and sperm parameters in CD1 outbred mice

(2008) Fatima Elzeinova et al.   REPRODUCTIVE TOXICOLOGY

The cardiofaciocutaneous syndrome: prenatal findings in two patients

(2007) I. Witters et al.   PRENATAL DIAGNOSIS