Furthermore, we found mutations in PTPN11 in a small percentage of individuals with myelodysplastic syndrome (MDS) and de novo acute myeloid leukemia (AML...
Erratum: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leykemia.Presents corrections in diagrams and charts cited in a study about somatic mutations in leukemia published in a ...
Buechner J, Jung A et al (2003) Somatic mutations in PTPN11 in juvenile myel- omonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. ...
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia,myelodysplastic syndromes and acute myeloid leukemia[J].Nature genetics,2003,(2):148-150.doi:...
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia,myelodysplastic syndromes and acute myeloid leukemia[J].Nature genetics,2003,(2):148-150.doi:...
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003; 34: 148-150.Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H...
Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juve...
Mortality and cancer incidence were measured retrospectively in 263 ataxia-telangiectasia (A-T) homozygotes. For white and black A-T patients, respectively, all-cause mortality was 50 and 147 times higher than expected based on U.S. mort...
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recentl...
Background: Epidemiologic studies of the families of patients with ataxia-telangiectasia (A-T), a recessive genetic neurologic disorder caused by mutation ...
Type 1 Neurofibromatosis, NF1, is a common genetic disorder with variable clinical manifestations. Although NF1 often is only of cosmetic concern, serious ...
An abnormally great amount of exhange between both sister and nonsister-but-homologous chromatids is a highly characteristic feature of cultured blood lymp...
To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic charact...
The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with immune deficiency, chromosome fragility, and increased suscepti...
Type I neurofibromatosis (NF-1) and Noonan syndrome (NS) are two fairly common genetic disorders. Patients with features of both disorders have been descri...
