Germline Mutation ofCBLIs Associated With Moyamoya Disease in a Child With Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Like Disorder

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Moyamoya Syndrome in a Child with Noonan Syndrome

(2011) Po-Cheng Hung et al.   PEDIATRIC NEUROLOGY

Childhood Myelodysplastic Syndrome: Focus on the Approach to Diagnosis and Treatment of Juvenile Myelomonocytic Leukemia

(2011) M. L. Loh   Hematology-American Society of Hematology Education Program

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

Cbl and Human Myeloid Neoplasms: The Cbl Oncogene Comes of Age: Figure 1.

(2010) Stephen C. Kales et al.   CANCER RESEARCH

Preliminary clinical analysis of neovascular glaucoma secondary to carotid artery disease

(2010) Biye Zhou et al.   Clinical and Experimental Optometry

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

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

(2009) M. L. Loh et al.   BLOOD

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia

(2009) H. Muramatsu et al.   BLOOD

Moyamoya Disease and Moyamoya Syndrome

(2009) R. Michael Scott et al.   NEW ENGLAND JOURNAL OF MEDICINE

Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukaemia: molecular classification and treatment options

(2008) Charlotte Marie Niemeyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2008) Yoko Aoki et al.   HUMAN MUTATION