Pages that link to "Q40527210"
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The following pages link to Genotype-phenotype correlations in Noonan syndrome (Q40527210):
Displaying 50 items.
- Leopard syndrome (Q21202917) (← 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)
- The cardiofaciocutaneous syndrome (Q24656142) (← 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)
- Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects (Q27314678) (← links)
- Germline KRAS mutations cause Noonan syndrome (Q28297024) (← links)
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome (Q33382063) (← 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)
- Small molecule inhibitors of SHP2 tyrosine phosphatase discovered by virtual screening (Q33931319) (← links)
- Clinical and Molecular Findings of Tunisian Patients with RASopathies (Q34299836) (← links)
- Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms (Q34440570) (← links)
- Spontaneous dislocation of a crystalline lens to the anterior chamber with pupillary block glaucoma in Noonan Syndrome: a case report (Q34444777) (← links)
- The natural history of Noonan syndrome: a long-term follow-up study (Q34567819) (← links)
- Noonan syndrome and clinically related disorders (Q34678373) (← links)
- Ectatic coronary arteries in Noonan syndrome (Q35039500) (← links)
- SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations (Q35056507) (← links)
- Noonan syndrome and related disorders: alterations in growth and puberty (Q35846971) (← links)
- The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease (Q35847884) (← links)
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia (Q36100102) (← links)
- New Genetic Insights into Congenital Heart Disease (Q36106143) (← links)
- Clinical laboratory evaluation of male subfertility (Q36342562) (← links)
- Atrioventricular canal defect in patients with RASopathies (Q36543055) (← links)
- An unexpected new role of mutant Ras: perturbation of human embryonic development (Q36702801) (← links)
- What's new in the neuro-cardio-facial-cutaneous syndromes? (Q36870643) (← links)
- Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations (Q37004824) (← links)
- Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation (Q37112471) (← links)
- The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders (Q37159467) (← links)
- Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management (Q37164120) (← links)
- Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice (Q37287463) (← links)
- Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature (Q37310945) (← links)
- The tyrosine phosphatase Shp2 in development and cancer (Q37732956) (← links)
- Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines (Q37793648) (← links)
- Orbital Manifestations of Noonan Syndrome (Q37861534) (← links)
- rhGH Safety and Efficacy Update (Q37898795) (← links)
- Clinical manifestations of mutations in RAS and related intracellular signal transduction factors (Q37900462) (← links)
- Bleeding disorders in Noonan syndrome (Q37947515) (← links)
- RASopathies: Clinical Diagnosis in the First Year of Life (Q39068707) (← links)
- Growth references for Japanese individuals with Noonan syndrome. (Q40229273) (← links)
- The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). (Q41531872) (← links)
- Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients (Q42018513) (← links)
- NRAS Mutations in Noonan Syndrome. (Q42215601) (← links)
- An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing (Q42378183) (← links)
- Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? (Q42749590) (← links)
- Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. (Q42816100) (← links)
- SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome (Q43232432) (← links)
- Clinical and molecular analysis of RASopathies in a group of Turkish patients (Q44259099) (← links)