Noonan syndrome: clinical aspects and molecular pathogenesis.
about
Cherubism: best clinical practiceMutation in NRAS in familial Noonan syndrome--case report and review of the literatureNoonan syndromeLymphatic fate specification: an ERK-controlled transcriptional programSmall G proteins in the cardiovascular system: physiological and pathological aspectsContribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneityPaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseGenetics of lymphatic anomaliesAberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesLoss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in developmentEvolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromesHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Ras in cancer and developmental diseasesStructure-energy-based predictions and network modelling of RASopathy and cancer missense mutationsClinical and Molecular Findings of Tunisian Patients with RASopathies.Genetic insights into the functional elements of language.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsRapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsMutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysmsCancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling.The role of SH3BP2 in the pathophysiology of cherubism.Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome familyEffect of 4 years of growth hormone therapy in children with Noonan syndrome in the American Norditropin Studies: Web-Enabled Research (ANSWER) Program® registryAtrioventricular canal defect in patients with RASopathies.Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation.Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice.SHP-2 deletion in postmigratory neural crest cells results in impaired cardiac sympathetic innervation.Distinct and overlapping functions of ptpn11 genes in Zebrafish development.Mammalian son of sevenless Guanine nucleotide exchange factors: old concepts and new perspectives.Bleeding disorders in Noonan syndrome.Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.
P2860
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P2860
Noonan syndrome: clinical aspects and molecular pathogenesis.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Noonan syndrome: clinical aspects and molecular pathogenesis.
@ast
Noonan syndrome: clinical aspects and molecular pathogenesis.
@en
type
label
Noonan syndrome: clinical aspects and molecular pathogenesis.
@ast
Noonan syndrome: clinical aspects and molecular pathogenesis.
@en
prefLabel
Noonan syndrome: clinical aspects and molecular pathogenesis.
@ast
Noonan syndrome: clinical aspects and molecular pathogenesis.
@en
P2860
P356
P1476
Noonan syndrome: clinical aspects and molecular pathogenesis.
@en
P2093
P2860
P356
10.1159/000276766
P577
2010-01-15T00:00:00Z