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Mutation in NRAS in familial Noonan syndrome--case report and review of the literatureGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome.LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesUncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imagingNoonan syndrome: clinical aspects and molecular pathogenesis.Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testingAdamantyl-substituted retinoid-derived molecules that interact with the orphan nuclear receptor small heterodimer partner: effects of replacing the 1-adamantyl or hydroxyl group on inhibition of cancer cell growth, induction of cancer cell apoptosisNoonan syndrome.Impaired Sertoli cell function in males diagnosed with Noonan syndrome.Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsGastrointestinal lymphatics in health and diseaseWarty skin changes, chronic scrotal lymphoedema, and facial dysmorphism.Noonan syndrome and clinically related disorders.SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsTranscriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.Investigation of cardiomyopathy using cardiac magnetic resonance imaging part 2: Rare phenotypes.Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing LossFive-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genesAtrioventricular canal defect in patients with RASopathies.Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.Ras/MAPK syndromes and childhood hemato-oncological diseases.Recent advances in RASopathies.The challenging sonographic inguinal canal evaluation in neonates and children: an update of differential diagnoses.Growth references for Japanese individuals with Noonan syndrome.Life-threatening obstructive sleep apnea caused by adenoid hypertrophy in an infant with noonan syndrome.Prolapse of all cardiac valves in Noonan syndrome.A longitudinal study of hearing and middle ear status of individuals with cleft palate with and without additional malformations/syndromes.Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.Conservative management of severe open bite and feeding difficulties in patient with noonan syndrome.A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.Short Stature Diagnosis and Referral.Occurrence of Cranial Neoplasms in Pediatric Patients with Noonan Syndrome Receiving Growth Hormone: Is Screening with Brain MRI prior to Initiation of Growth Hormone Indicated?Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases.
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description
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2007
@uk
name
Noonan syndrome
@en
Noonan syndrome
@nl
type
label
Noonan syndrome
@en
Noonan syndrome
@nl
prefLabel
Noonan syndrome
@en
Noonan syndrome
@nl
P356
P1476
Noonan syndrome
@en
P2093
Ineke van der Burgt
P2888
P356
10.1186/1750-1172-2-4
P407
P5008
P577
2007-01-14T00:00:00Z
P6179
1020042744