List of works - Viviana Cordeddu

Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia

scientific article

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

scientific article

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

scientific article

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

scientific article published on 24 February 2004

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

scientific article

High risk of congenital hypothyroidism in multiple pregnancies

scientific article published on 08 May 2007

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

scientific article published on 23 January 2014

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

scientific article

Mutations in ZBTB20 cause Primrose syndrome

scientific article

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma

scientific article published on 5 April 2015

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

scientific article published on 14 March 2012

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

scientific article

Postpartum thyroiditis is associated with fluctuations in transforming growth factor-beta1 serum levels

scientific article published on 01 March 2003

Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy

scientific article

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling

scientific article published on 27 July 2016

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

scientific article

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

scientific article

List of works by Viviana Cordeddu

Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

High risk of congenital hypothyroidism in multiple pregnancies

Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Mutations in ZBTB20 cause Primrose syndrome

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome

Postpartum thyroiditis is associated with fluctuations in transforming growth factor-beta1 serum levels

Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations