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Viviana Cordeddu
Viviana Cordeddu
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Year
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
V Cordeddu, E Di Schiavi, LA Pennacchio, A Ma'ayan, A Sarkozy, ...
Nature genetics 41 (9), 1022-1026, 2009
4452009
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
M Tartaglia, S Martinelli, L Stella, G Bocchinfuso, E Flex, V Cordeddu, ...
The American Journal of Human Genetics 78 (2), 279-290, 2006
4202006
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ...
Human mutation 30 (4), 695-702, 2009
3382009
Genetic evidence for lineage-related and differentiation stage–related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
M Tartaglia, S Martinelli, G Cazzaniga, V Cordeddu, I Iavarone, M Spinelli, ...
Blood 104 (2), 307-313, 2004
3312004
A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital …
A Olivieri, MA Stazi, P Mastroiacovo, C Fazzini, E Medda, A Spagnolo, ...
The Journal of Clinical Endocrinology & Metabolism 87 (2), 557-562, 2002
2912002
Missense mutation in the transcription factor NKX2–5: a novel molecular event in the pathogenesis of thyroid dysgenesis
M Dentice, V Cordeddu, A Rosica, AM Ferrara, L Santarpia, D Salvatore, ...
The Journal of Clinical Endocrinology & Metabolism 91 (4), 1428-1433, 2006
1982006
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations
F Lepri, A De Luca, L Stella, C Rossi, G Baldassarre, F Pantaleoni, ...
Human mutation 32 (7), 760-772, 2011
1352011
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome
M Tartaglia, V Cordeddu, H Chang, A Shaw, K Kalidas, A Crosby, ...
The American Journal of Human Genetics 75 (3), 492-497, 2004
1102004
Gene therapy in retinal dystrophies
L Ziccardi, V Cordeddu, L Gaddini, A Matteucci, M Parravano, ...
International journal of molecular sciences 20 (22), 5722, 2019
1032019
Mutations in ZBTB20 cause Primrose syndrome
V Cordeddu, B Redeker, E Stellacci, A Jongejan, A Fragale, TEJ Bradley, ...
Nature genetics 46 (8), 815-817, 2014
982014
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
ML Dentici, A Sarkozy, F Pantaleoni, C Carta, F Lepri, R Ferese, ...
European Journal of Human Genetics 17 (6), 733-740, 2009
922009
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
TE Neumann, J Allanson, I Kavamura, B Kerr, G Neri, J Noonan, ...
European journal of human genetics 17 (4), 420-425, 2009
892009
High risk of congenital hypothyroidism in multiple pregnancies
A Olivieri, E Medda, S De Angelis, H Valensise, M De Felice, C Fazzini, ...
The Journal of Clinical Endocrinology & Metabolism 92 (8), 3141-3147, 2007
862007
Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
V Cordeddu, JC Yin, C Gunnarsson, C Virtanen, S Drunat, F Lepri, ...
Human mutation 36 (11), 1080-1087, 2015
842015
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia
ML Loh, S Martinelli, V Cordeddu, MG Reynolds, S Vattikuti, CM Lee, ...
Leukemia research 29 (4), 459-462, 2005
732005
Copy number variants in autism spectrum disorders
S Vicari, E Napoli, V Cordeddu, D Menghini, V Alesi, S Loddo, A Novelli, ...
Progress in Neuro-Psychopharmacology and Biological Psychiatry 92, 421-427, 2019
562019
Postpartum thyroiditis is associated with fluctuations in transforming growth factor-β1 serum levels
A Olivieri, S De Angelis, V Vaccari, H Valensise, F Magnani, MA Stazi, ...
The Journal of Clinical Endocrinology & Metabolism 88 (3), 1280-1284, 2003
322003
Study Group for Congenital Hypothyroidism A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from …
A Olivieri, MA Stazi, P Mastroiacovo, C Fazzini, E Medda, A Spagnolo, ...
J Clin Endocrinol Metab 87 (2), 557-62, 2002
292002
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation
G Gargano, I Guidotti, E Balestri, F Vagnarelli, S Rosato, G Comitini, ...
American Journal of Medical Genetics Part A 164 (4), 1015-1020, 2014
262014
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy
J Pablo Kaski, P Syrris, A Shaw, KZ Alapi, V Cordeddu, MTT Esteban, ...
Circulation: Cardiovascular Genetics 5 (3), 317-326, 2012
262012
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