about
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisA Novel SHOC2 Variant in RasopathyGenetics of valvular heart diseaseThe neural crest in cardiac congenital anomaliesShoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cellsPhosphorylation of mammalian cytochrome c and cytochrome c oxidase in the regulation of cell destiny: respiration, apoptosis, and human diseaseStructural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeShp2 in forebrain neurons regulates synaptic plasticity, locomotion, and memory formation in miceC-Raf deficiency leads to hearing loss and increased noise susceptibility.Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testingPtpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling.Clinical and Molecular Findings of Tunisian Patients with RASopathies.Molecular genetic testing and the future of clinical genomics.LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesityHeterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.K-RasV14I recapitulates Noonan syndrome in mice.MAPK activation in mature cataract associated with Noonan syndromeSOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsGermline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Leukemogenic Ptpn11 allele causes defective erythropoiesis in mice.Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.BRAF gene: From human cancers to developmental syndromes.Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing LossIncreased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutantsEffects of Raf dimerization and its inhibition on normal and disease-associated Raf signaling.A comprehensive review of genetics and genetic testing in azoospermia.Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.The etiology and molecular genetics of human pigmentation disordersA pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndromePrenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.Tegumentary manifestations of Noonan and Noonan-related syndromes.Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.Do you know this syndrome? Noonan syndrome.Low-dose dasatinib rescues cardiac function in Noonan syndrome.Pragmatic language impairment in children with Noonan syndrome.Noonan syndrome - a new survey.Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Noonan syndrome and clinically related disorders.
@ast
Noonan syndrome and clinically related disorders.
@en
Noonan syndrome and clinically related disorders.
@nl
type
label
Noonan syndrome and clinically related disorders.
@ast
Noonan syndrome and clinically related disorders.
@en
Noonan syndrome and clinically related disorders.
@nl
prefLabel
Noonan syndrome and clinically related disorders.
@ast
Noonan syndrome and clinically related disorders.
@en
Noonan syndrome and clinically related disorders.
@nl
P2860
P50
P1476
Noonan syndrome and clinically related disorders.
@en
P2093
Bruce D Gelb
P2860
P304
P356
10.1016/J.BEEM.2010.09.002
P577
2011-02-01T00:00:00Z