Associated Papers
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F et al.
Journal of Applied Genetics, 2024
Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations.
Sheng L et al.
Open Medicine (warsaw, Poland), 2023
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
Ju Y et al.
Stem Cell Research & Therapy, 2020
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.
Lee KA et al.
Clinical Genetics, 2009
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I et al.
Proteins, 2008
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
Tartaglia M et al.
American Journal of Human Genetics, 2006
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
Pearson ER et al.
Diabetologia, 2005
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
Niihori T et al.
Journal of Human Genetics, 2005
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