Pages that link to "Q34522913"
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The following pages link to PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity (Q34522913):
Displaying 50 items.
- Leopard syndrome (Q21202917) (← links)
- Genetic disorders associated with macrocephaly (Q22337413) (← links)
- Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype (Q24293473) (← links)
- Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation (Q24294180) (← links)
- Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease (Q24540529) (← links)
- MAP'ing CNS development and cognition: an ERKsome process (Q24621710) (← links)
- The cardiofaciocutaneous syndrome (Q24656142) (← links)
- Juvenile myelomonocytic leukemia: molecular pathogenesis informs current approaches to therapy and hematopoietic cell transplantation (Q26851000) (← links)
- Noonan syndrome (Q27001641) (← links)
- Connecting teratogen-induced congenital heart defects to neural crest cells and their effect on cardiac function (Q27015114) (← links)
- The neural crest in cardiac congenital anomalies (Q27024385) (← links)
- Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib (Q27853179) (← links)
- Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy (Q27865193) (← links)
- JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities (Q28082598) (← links)
- The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling (Q28182148) (← links)
- RAS diseases in children (Q28252058) (← links)
- Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation (Q28594140) (← links)
- Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome (Q29147386) (← links)
- LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies (Q30439033) (← links)
- Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling (Q30477015) (← links)
- Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax (Q31057206) (← links)
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome (Q33382063) (← links)
- Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations (Q33558105) (← links)
- Novel SHP-1 inhibitors tyrosine phosphatase inhibitor-1 and analogs with preclinical anti-tumor activities as tolerated oral agents (Q33565239) (← links)
- Critical Role for GAB2 in Neuroblastoma Pathogenesis through the Promotion of SHP2/MYCN Cooperation (Q33568776) (← links)
- SHP-2 is required for the maintenance of cardiac progenitors (Q33595597) (← links)
- Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia (Q33722741) (← links)
- Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia (Q33774508) (← links)
- Noonan syndrome: clinical aspects and molecular pathogenesis (Q33806161) (← links)
- Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome (Q33910077) (← links)
- Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes (Q33979110) (← links)
- A possible case of cherubism in a 17th-century Korean mummy (Q34004765) (← links)
- Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia (Q34130332) (← links)
- NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome (Q34137459) (← links)
- Clinical and Molecular Findings of Tunisian Patients with RASopathies (Q34299836) (← links)
- Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome (Q34326050) (← links)
- SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions (Q34327160) (← links)
- Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. (Q34421680) (← links)
- Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. (Q34425369) (← links)
- Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms (Q34440570) (← links)
- Growth hormone therapy for syndromic disorders (Q34534517) (← links)
- Understanding intellectual disability through RASopathies (Q34558084) (← links)
- The natural history of Noonan syndrome: a long-term follow-up study (Q34567819) (← links)
- Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation. (Q34627120) (← links)
- Germline gain-of-function mutations in RAF1 cause Noonan syndrome (Q34644154) (← links)
- Noonan syndrome and clinically related disorders (Q34678373) (← links)
- SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations (Q35056507) (← links)
- Xenopus: An emerging model for studying congenital heart disease (Q35075360) (← links)
- Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. (Q35079992) (← links)
- The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease. (Q35118478) (← links)