Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

(2011) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

(2011) Angela E. Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The musculoskeletal phenotype of the RASopathies

(2011) David A. Stevenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review

(2011) Marni E. Axelrad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: Developmental consequences of germline Ras/MAPK activation on myogenesis

(2011) William E. Tidyman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies

(2011) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

(2010) Katta M. Girisha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated withHRASmutations as the likely cause of structural brain and spinal cord abnormalities

(2010) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

(2009) Katherine A. Rauen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome

(2009) Marni E. Axelrad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Living with Costello syndrome: Quality of life issues in older individuals

(2009) Elizabeth Hopkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Male-to-male transmission of Costello syndrome: G12SHRASgermline mutation inherited from a father with somatic mosaicism

(2009) Katia Sol-Church et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Polyhydramnios, fetal overgrowth, and macrocephaly: Prenatal ultrasound findings of Costello syndrome

(2009) Laura P. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

(2009) Lothar Gremer et al.   HUMAN MOLECULAR GENETICS

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

(2009) Angela E. Lin et al.   PRENATAL DIAGNOSIS

Clarification of previously reported Costello syndrome patients

(2008) Angela E. Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

(2008) Bronwyn Kerr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Costello syndrome associated with novel germlineHRAS mutations: An attenuated phenotype?

(2008) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

OncogenicHRASmutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome

(2008) Georg Rosenberger et al.   HUMAN MUTATION