M
Mariella Sorcini
Researcher at Istituto Superiore di Sanità
Publications - 43
Citations - 2120
Mariella Sorcini is an academic researcher from Istituto Superiore di Sanità. The author has contributed to research in topics: Congenital hypothyroidism & Population. The author has an hindex of 18, co-authored 43 publications receiving 1955 citations. Previous affiliations of Mariella Sorcini include Icahn School of Medicine at Mount Sinai.
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Journal ArticleDOI
Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease
Marco Tartaglia,Simone Martinelli,Lorenzo Stella,Gianfranco Bocchinfuso,Elisabetta Flex,Viviana Cordeddu,Giuseppe Zampino,Ineke van der Burgt,Antonio Palleschi,Tamara C. Petrucci,Mariella Sorcini,Claudia Schoch,Robin Foà,Peter D. Emanuel,Bruce D. Gelb +14 more
TL;DR: It is demonstrated that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones and that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHp-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
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Genetic evidence for lineage-related and differentiation stage–related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
Marco Tartaglia,Simone Martinelli,Giovanni Cazzaniga,Viviana Cordeddu,Ivano Iavarone,Monica Spinelli,Chiara Palmi,Claudio Carta,Andrea Pession,Maurizio Aricò,Giuseppe Masera,Giuseppe Basso,Mariella Sorcini,Bruce D. Gelb,Andrea Biondi +14 more
TL;DR: Findings provide evidence for a wider role of PTPN11 lesions in leukemogenesis, but also suggest a lineage-related and differentiation stage-related contribution of these lesions to clonal expansion.
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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)
Olivieri A,Maria Antonietta Stazi,Pierpaolo Mastroiacovo,Cristina Fazzini,Emanuela Medda,A. Spagnolo,S. De Angelis,Michele E. Grandolfo,D. Taruscio,Viviana Cordeddu,Mariella Sorcini +10 more
TL;DR: The significantly higher frequency of extrathyroidal congenital malformations reported in the CH infants than in the general population represents a further argument supporting the role of a genetic component in the etiology of CH.
Journal ArticleDOI
Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis
Monica Dentice,Viviana Cordeddu,Annamaria Rosica,Alfonso Massimiliano Ferrara,Libero Santarpia,Domenico Salvatore,Luca Chiovato,Anna Perri,Lidia Moschini,Cristina Fazzini,Antonella Olivieri,Pietro Costa,Vera Stoppioni,Mariangiola Baserga,Mario De Felice,Mariella Sorcini,Gianfranco Fenzi,Roberto Di Lauro,Marco Tartaglia,Paolo Emidio Macchia +19 more
TL;DR: In this paper, the authors investigated the role of genes involved in both heart and thyroid development in Congenital Hypothyroidism (CH) and found a higher prevalence of CH in children with CH than in the general population.
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Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).
Emanuela Medda,Antonella Olivieri,Maria Antonietta Stazi,Michele E. Grandolfo,Cristina Fazzini,Mariangiola Baserga,Massimo Burroni,Emanuele Cacciari,Francesca Calaciura,Alessandra Cassio,Luca Chiovato,Pietro Costa,Daniela Leonardi,Maria Martucci,Lidia Moschini,Severo Pagliardini,Giuseppe Parlato,Alberto Pignero,Aldo Pinchera,Danielle Sala,Lidia Sava,Vera Stoppioni,Francesco Tancredi,Fabiola Valentini,Riccardo Vigneri,Mariella Sorcini +25 more
TL;DR: The results suggested a multifactorial origin of CH in which genetic and environmental factors play a role in the development of the disease.