Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationA mouse model for Costello syndrome reveals an Ang II-mediated hypertensive conditionThe cardiofaciocutaneous syndromePaternal age effect mutations and selfish spermatogonial selection: causes and consequences for human diseaseDysmorphology demystifiedGenetics of lymphatic anomaliesRas and Rap signaling in synaptic plasticity and mental disorders.Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumNoonan syndrome: clinical aspects and molecular pathogenesis.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsCardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemiaCostello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment.Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular diseaseCancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromesCytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observationAn unexpected new role of mutant Ras: perturbation of human embryonic developmentClinical relevance of molecular genetics to paediatric sarcomasDe novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsCardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogeneNoonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Isoform-specific ras functions in development and cancer.Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Some general considerations about the clinicopathologic aspects of soft tissue tumors in children and adolescents.Autism spectrum disorders: the quest for genetic syndromes.Lymphatic vessel abnormalities arising from disorders of Ras signal transduction.Syndrome-associated soft tissue tumours.Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.Current concepts on gingival fibromatosis-related syndromes.Mal de Meleda: A Focused Review.RASopathies: Clinical Diagnosis in the First Year of Life.HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.LEOPARD Syndrome: Clinical Features and Gene Mutations.Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome
P2860
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P2860
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
description
2006 nî lūn-bûn
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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
@ast
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
@en
type
label
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
@ast
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
@en
prefLabel
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
@ast
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
@en
P2093
P2860
P50
P356
P1476
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
@en
P2093
B Arveiler
I Burgelin
P2860
P304
P356
10.1136/JMG.2005.040352
P407
P577
2006-01-27T00:00:00Z