about
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisNew mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairA restricted spectrum of NRAS mutations causes Noonan syndromeGain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeGermline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumHeterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsBRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsCHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.Spinal ependymoma in a patient with Kabuki syndrome: a case report.Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.Atrioventricular canal defect in patients with RASopathies.Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.Kabuki syndrome: clinical and molecular diagnosis in the first year of life.RASopathies: Clinical Diagnosis in the First Year of Life.Telomere shortening and telomere position effect in mild ring 17 syndrome.Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.Corneal arcus as first sign of familial hypercholesterolemia.Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants.Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs).Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants.Neurobehavioral features in individuals with Kabuki syndrome.JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of FallotEbstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connectionClinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromesAdditional evidence thatPTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defectHyperthrophic cardiomyopathy and thePTPN11 geneUniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
P50
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P50
description
hulumtuese
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wetenschapper
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հետազոտող
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name
Francesca Lepri
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Francesca Lepri
@en
Francesca Lepri
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Francesca Lepri
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Francesca Lepri
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Francesca Lepri
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type
label
Francesca Lepri
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Francesca Lepri
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Francesca Lepri
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Francesca Lepri
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Francesca Lepri
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Francesca Lepri
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prefLabel
Francesca Lepri
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Francesca Lepri
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Francesca Lepri
@es
Francesca Lepri
@fr
Francesca Lepri
@nl
Francesca Lepri
@sl
P106
P21
P31
P496
0000-0001-5331-0473
P569
2000-01-01T00:00:00Z