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- Publications
- Influence
Germline KRAS mutations cause Noonan syndrome
- Suzanne Schubbert, M. Zenker, +15 authors C. Kratz
- Biology, Medicine
- Nature Genetics
- 12 February 2006
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause ∼50% of cases of Noonan syndrome.… Expand
Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
Mutations in genes of the splicing machinery have been described recently in myelodysplastic syndromes (MDS). In the present study, we examined a cohort of 193 MDS patients for mutations in SRSF2,… Expand
A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases
- H. Hasle, C. Niemeyer, +4 authors D. Head
- Medicine
- Leukemia
- 1 February 2003
Myelodysplastic and myeloproliferative disorders are rare in childhood and there is no widely accepted system for their diagnosis and classification. We propose minimal diagnostic criteria and a… Expand
Chronic myelomonocytic leukemia in childhood. A retrospective analysis of 110 cases.
- C. Niemeyer, M. Aricò, +13 authors M. Zimmermann
- Medicine
- 15 May 1997
Chronic myelomonocytic leukemia (CMML) is a rare hematopoietic malignancy of childhood. To define the clinical and hematologic characteristics of the disease, we performed a retrospective analysis of… Expand
Improved outcome in childhood acute lymphoblastic leukemia despite reduced use of anthracyclines and cranial radiotherapy: results of trial ALL-BFM 90
- M. Schrappe, A. Reiter, +12 authors H. Riehm
- Medicine
- 1 June 2000
Trial ALL-BFM 90 was designed to improve outcome in patients with childhood acute lymphoblastic leukemia (ALL) by using a reduced treatment regimen. Patients were stratified into a standard-risk… Expand
Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
- M. Loh, D. Sakai, +18 authors C. Niemeyer
- Biology, Medicine
- Blood
- 27 August 2009
Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated… Expand
How I treat juvenile myelomonocytic leukemia.
- F. Locatelli, C. Niemeyer
- Medicine
- Blood
- 12 February 2015
Juvenile myelomonocytic leukemia (JMML) is a unique, aggressive hematopoietic disorder of infancy/early childhood caused by excessive proliferation of cells of monocytic and granulocytic lineages.… Expand
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
- M. Wlodarski, Shinsuke Hirabayashi, +31 authors C. Niemeyer
- Medicine
- Blood
- 17 March 2016
Germline GATA2 mutations cause cellular deficiencies with high propensity for myeloid disease. We investigated 426 children and adolescents with primary myelodysplastic syndrome (MDS) and 82 cases… Expand
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
- C. Niemeyer, M. Kang, +28 authors M. Loh
- Biology, Medicine
- Nature Genetics
- 8 August 2010
CBL encodes a member of the Cbl family of proteins, which functions as an E3 ubiquitin ligase. We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is… Expand
Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial.
- F. Locatelli, P. Nöllke, +22 authors C. Niemeyer
- Medicine
- Blood
- 2005
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only proven curative therapy for juvenile myelomonocytic leukemia (JMML). We, the European Working Group on Childhood MDS (EWOG-MDS)… Expand