Author details

Full Name

Viviana Cordeddu

Affiliation

ORCID

Career Start Year

2002

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36734411	Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.	Am J Med Genet C Semin Med Genet	2023
37059841	Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.	Eur J Hum Genet	2023
35348676	Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.	Hum Mol Genet	2022
35627274	Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.	Genes (Basel)	2022
36498982	Biallelic Inactivating Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.		2022
32120303	Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.	Parkinsonism and Related Disorders	2020
32266967	Primrose syndrome: Characterization of the phenotype in 42 patients.	Clin Genet	2020
32415735	Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.	Clin Genet	2020
30797015	Copy number variants in autism spectrum disorders.	Progress in Neuro-Psychopharmacology and Biological Psychiatry	2019
31739639	Gene Therapy in Retinal Dystrophies.	International Journal of Molecular Sciences	2019
27466182	SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.	Hum Mol Genet	2016
26173643	Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.	Hum Mutat	2015
25846317	Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.	Am J Med Genet A	2015
25017102	Mutations in ZBTB20 cause Primrose syndrome.	Nature Genetics	2014
24458587	Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.	American Journal of Medical Genetics, Part A	2014
22419608	Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.	American Journal of Medical Genetics, Part A	2012
22589294	Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.	Circ Cardiovasc Genet	2012
21387466	SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.	Hum Mutat	2011
18854871	Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.	Eur J Hum Genet	2009
19684605	Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.	Nat Genet	2009
19206169	Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.	Hum Mutat	2009
19156172	Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.	European Journal of Human Genetics	2009
17488789	High risk of congenital hypothyroidism in multiple pregnancies.	Journal of Clinical Endocrinology and Metabolism	2007
16358218	Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.	Am J Hum Genet	2006
16418214	Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.	J Clin Endocrinol Metab	2006
15725481	Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.	Leuk Res	2005
14982869	Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.	Blood	2004
15248152	Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.	Am J Hum Genet	2004
12629119	Postpartum thyroiditis is associated with fluctuations in transforming growth factor-beta1 serum levels.	Journal of Clinical Endocrinology and Metabolism	2003
11836285	A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998).	J Clin Endocrinol Metab	2002