Cancer spectrum and frequency among children with Noonan, Costello and cardio-facio-cutaneous syndromes

How important are rare variants in common disease?

(2014) A. Saint Pierre et al.   Briefings in Functional Genomics

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

(2014) E. Flex et al.   HUMAN MOLECULAR GENETICS

Juvenile myelomonocytic leukaemia and Noonan syndrome

(2014) Marion Strullu et al.   JOURNAL OF MEDICAL GENETICS

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

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes

(2011) Christian P. Kratz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

(2011) Marjolijn C J Jongmans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

(2011) Satoru Yokoyama et al.   NATURE

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

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Dysembryoplastic neuroepithelial tumor (DNET) in a patient with Noonan syndrome

(2010) M Selter et al.   NEUROPEDIATRICS

Common Acute Lymphoblastic Leukemia in a Girl With Genetically Confirmed LEOPARD Syndrome

(2009) Daniela Laux et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

A Cohort Study of Childhood Cancer Incidence after Postnatal Diagnostic X-Ray Exposure

(2009) Gaël P. Hammer et al.   RADIATION RESEARCH