Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
about
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeDistinct domains in the SHP-2 phosphatase differentially regulate epidermal growth factor receptor/NF-kappaB activation through Gab1 in glioblastoma cellsDiversity and functional consequences of germline and somatic PTPN11 mutations in human disease.The human ribosomal protein genes: sequencing and comparative analysis of 73 genesGain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signalingClues in diagnosing congenital heart diseaseMyocardial disarray in Noonan syndromePartial anomalous pulmonary venous drainage in two patients with Turner's syndrome.Noonan syndrome: clinical aspects and molecular pathogenesis.Male hypogonadism.Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesThe dysplastic pulmonary valve: echocardiographic features and results of balloon dilatation.Clinical and Molecular Findings of Tunisian Patients with RASopathies.Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeProbing the structural determinants for the function of intracellular loop 2 in structurally cognate G-protein-coupled receptors.Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityDevelopment of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutationsNoonan syndrome and clinically related disorders.Ocular manifestations of Noonan syndrome in twin siblings: a case report of keratoconus with acute corneal hydrops.Xenopus: An emerging model for studying congenital heart disease.Intramural jejunal haematoma after peroral mucosal biopsy in a child with intestinal malrotation.Genetics of atrial septal defect.Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel lociClinical manifestations of Noonan syndrome.Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton.PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?Pulmonary valvular dysplasia. A cardiofacial syndrome.Electrocardiogram and vectorcardiogram in Turner phenotype with normal chromosomes and pulmonary stenosis.New Genetic Insights into Congenital Heart Disease.Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.Cerebral arteriovenous malformation in Noonan's syndrome.Colobomata associated with Noonan's syndrome.Cardiovascular malformations in Turner's and Noonan's syndromeCalcium signaling in vertebrate embryonic patterning and morphogenesisNoonan's syndrome with hydrocephalus, hindbrain herniation, and upper cervical intracord cystCongenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes).
P2860
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P2860
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
description
1968 nî lūn-bûn
@nan
1968 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1968 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1968年の論文
@ja
1968年論文
@yue
1968年論文
@zh-hant
1968年論文
@zh-hk
1968年論文
@zh-mo
1968年論文
@zh-tw
1968年论文
@wuu
name
Hypertelorism with Turner phen ...... ated congenital heart disease.
@ast
Hypertelorism with Turner phen ...... ated congenital heart disease.
@en
Hypertelorism with Turner phen ...... ated congenital heart disease.
@nl
type
label
Hypertelorism with Turner phen ...... ated congenital heart disease.
@ast
Hypertelorism with Turner phen ...... ated congenital heart disease.
@en
Hypertelorism with Turner phen ...... ated congenital heart disease.
@nl
prefLabel
Hypertelorism with Turner phen ...... ated congenital heart disease.
@ast
Hypertelorism with Turner phen ...... ated congenital heart disease.
@en
Hypertelorism with Turner phen ...... ated congenital heart disease.
@nl
P1476
Hypertelorism with Turner phen ...... ated congenital heart disease.
@en
P2093
P304
P577
1968-10-01T00:00:00Z