Pages that link to "Q34678373"
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The following pages link to Noonan syndrome and clinically related disorders (Q34678373):
Displaying 50 items.
- Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis (Q24294030) (← links)
- A Novel SHOC2 Variant in Rasopathy (Q24302232) (← links)
- Genetics of valvular heart disease (Q27014805) (← links)
- The neural crest in cardiac congenital anomalies (Q27024385) (← links)
- Shoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells (Q27303629) (← links)
- Phosphorylation of mammalian cytochrome c and cytochrome c oxidase in the regulation of cell destiny: respiration, apoptosis, and human disease (Q28386527) (← links)
- Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome (Q29147386) (← links)
- Shp2 in forebrain neurons regulates synaptic plasticity, locomotion, and memory formation in mice (Q30399984) (← links)
- C-Raf deficiency leads to hearing loss and increased noise susceptibility (Q30664961) (← links)
- Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11. (Q33653565) (← links)
- Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing (Q33861226) (← links)
- Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. (Q34103614) (← links)
- Clinical and Molecular Findings of Tunisian Patients with RASopathies (Q34299836) (← links)
- Molecular genetic testing and the future of clinical genomics (Q34345162) (← links)
- LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity (Q34409247) (← links)
- Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. (Q34425369) (← links)
- K-RasV14I recapitulates Noonan syndrome in mice (Q34581270) (← links)
- MAPK activation in mature cataract associated with Noonan syndrome (Q35039329) (← links)
- SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations (Q35056507) (← links)
- Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? (Q35079964) (← links)
- Leukemogenic Ptpn11 allele causes defective erythropoiesis in mice (Q35308167) (← links)
- Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome (Q35648067) (← links)
- BRAF gene: From human cancers to developmental syndromes (Q35802430) (← links)
- Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. (Q35837138) (← links)
- Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. (Q35903618) (← links)
- Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss (Q36113695) (← links)
- Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants (Q36277286) (← links)
- Effects of Raf dimerization and its inhibition on normal and disease-associated Raf signaling (Q36640274) (← links)
- A comprehensive review of genetics and genetic testing in azoospermia (Q36641203) (← links)
- Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes. (Q36659007) (← links)
- The etiology and molecular genetics of human pigmentation disorders (Q36959274) (← links)
- A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome (Q37065683) (← links)
- Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. (Q37102118) (← links)
- Tegumentary manifestations of Noonan and Noonan-related syndromes. (Q37119080) (← links)
- Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines (Q37137867) (← links)
- Do you know this syndrome? Noonan syndrome (Q37141810) (← links)
- Low-dose dasatinib rescues cardiac function in Noonan syndrome (Q37469169) (← links)
- Pragmatic language impairment in children with Noonan syndrome (Q37494794) (← links)
- Noonan syndrome - a new survey (Q37549407) (← links)
- Diagnosis of Noonan syndrome and related disorders using target next generation sequencing (Q37558643) (← links)
- Frequency of aortic dilation in Noonan syndrome (Q37626329) (← links)
- Cardiac findings in Noonan syndrome on long-term follow-up (Q38113256) (← links)
- Giant cell lesions of the craniofacial bones (Q38269588) (← links)
- Malignancy in Noonan syndrome and related disorders (Q38356240) (← links)
- Evaluation of genetic causes of cardiomyopathy in childhood (Q38588154) (← links)
- Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders (Q38653477) (← links)
- Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms (Q38711139) (← links)
- Cardiac concentric hypertrophy promoted by activated Met receptor is mitigated in vivo by inhibition of Erk1,2 signalling with Pimasertib. (Q38790312) (← links)
- Separate origins of the left internal and external carotid arteries from the aortic arch and cervical internal carotid artery aneurysm in a patient with Noonan syndrome (Q38903937) (← links)
- The current state of clinical interpretation of sequence variants (Q38981093) (← links)