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Mariella Sorcini

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Antonella Olivieri; Emanuela Medda; Stefania De Angelis; Herbert Valensise; Mario De Felice; Cristina Fazzini; Isabella Cascino; Viviana Cordeddu; Mariella Sorcini; Maria Antonietta Stazi
High risk of congenital hypothyroidism in multiple pregnancies.
Simone Martinelli; Claudio Carta; Elisabetta Flex; Francesco Binni; Emanuela Lucci Cordisco; Sonia Moretti; Efisio Puxeddu; Massimo Tonacchera; Aldo Pinchera; Heather P McDowell; Carlo Dominici; Angelo Rosolen; Concezio Di Rocco; Riccardo Riccardi; Paolo Celli; Mauro Picardo; Maurizio Genuardi; Paola Grammatico; Mariella Sorcini; Marco Tartaglia
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
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
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.

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All Publications

2007: Antonella Olivieri; Emanuela Medda; Stefania De Angelis; Herbert Valensise; Mario De Felice; Cristina Fazzini; Isabella Cascino; Viviana Cordeddu; Mariella Sorcini; Maria Antonietta Stazi
High risk of congenital hypothyroidism in multiple pregnancies.
The Journal of clinical endocrinology and metabolism 2007;92(8):3141-7.
2006: Simone Martinelli; Claudio Carta; Elisabetta Flex; Francesco Binni; Emanuela Lucci Cordisco; Sonia Moretti; Efisio Puxeddu; Massimo Tonacchera; Aldo Pinchera; Heather P McDowell; Carlo Dominici; Angelo Rosolen; Concezio Di Rocco; Riccardo Riccardi; Paolo Celli; Mauro Picardo; Maurizio Genuardi; Paola Grammatico; Mariella Sorcini; Marco Tartaglia
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Cancer genetics and cytogenetics 2006;166(2):124-9.
2006: 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
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
The Journal of clinical endocrinology and metabolism 2006;91(4):1428-33.
2006: 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 Foa; Peter D Emanuel; Bruce D Gelb
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
American journal of human genetics 2006;78(2):279-90.
2005: 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
Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).
European journal of endocrinology / European Federation of Endocrine Societies 2005;153(6):765-73.
2005: Carla Iacobini; Giovanna Oddi; Stefano Menini; Lorena Amadio; Carlo Ricci; Clelia Di Pippo; Mariella Sorcini; Flavia Pricci; Francesco Pugliese; Giuseppe Pugliese
Development of age-dependent glomerular lesions in galectin-3/AGE-receptor-3 knockout mice.
American journal of physiology. Renal physiology 2005;289(3):F611-21.
2005: Marco Tartaglia; Simone Martinelli; IVANO IAVARONE; Giovanni Cazzaniga; Monica Spinelli; Emanuela Giarin; Valentina Petrangeli; Claudio Carta; Riccardo Masetti; Maurizio Aricò; Franco Locatelli; Giuseppe Basso; Mariella Sorcini; Andrea Pession; Andrea Biondi
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
British journal of haematology 2005;129(3):333-9.
2005: Giuseppe Pugliese; Flavia Pricci; Paola Barsotti; Carla Iacobini; Carlo Ricci; Giovanna Oddi; Giulio Romeo; Gaetano Leto; Giuseppe Marano; Mariella Sorcini; Massimo Sabbatini; Giorgio Fuiano; Umberto Di Mario; Francesco Pugliese
Development of diabetic nephropathy in the Milan normotensive strain, but not in the Milan hypertensive strain: possible permissive role of hemodynamics.
Kidney international 2005;67(4):1440-52.
2005: Mignon L Loh; Simone Martinelli; Viviana Cordeddu; Melissa G Reynolds; Shashaank Vattikuti; Connie M Lee; Michael Wulfert; Ulrich Germing; Peter Haas; Charlotte Niemeyer; Miloslav E Beran; Sara Strom; Michael Lübbert; Mariella Sorcini; Elihu H Estey; Norbert Gattermann; Marco Tartaglia
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.
Leukemia research 2005;29(4):459-62.
2004: Carla Iacobini; Stefano Menini; Giovanna Oddi; Carlo Ricci; Lorena Amadio; Flavia Pricci; Antonella Olivieri; Mariella Sorcini; Umberto Di Mario; Carlo Pesce; Giuseppe Pugliese
Galectin-3/AGE-receptor 3 knockout mice show accelerated AGE-induced glomerular injury: evidence for a protective role of galectin-3 as an AGE receptor.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004;18(14):1773-5.
2004: Marco Tartaglia; Viviana Cordeddu; Hong Chang; Adam Shaw; Kamini Kalidas; Andrew H Crosby; Michael A Patton; Mariella Sorcini; Ineke van der Burgt; Steve Jeffery; Bruce D Gelb
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
American journal of human genetics 2004;75(3):492-7.
2004: 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
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
Blood 2004;104(2):307-13.
2003: Flavia Pricci; Gaetano Leto; Lorena Amadio; Carla Iacobini; Samantha Cordone; Stefania Catalano; Alessandra Zicari; Mariella Sorcini; Umberto Di Mario; Giuseppe Pugliese
Oxidative stress in diabetes-induced endothelial dysfunction involvement of nitric oxide and protein kinase C.
Free radical biology & medicine 2003;35(6):683-94.
2003: Carla Iacobini; Lorena Amadio; Giovanna Oddi; Carlo Ricci; Paola Barsotti; Serena Missori; Mariella Sorcini; Umberto Di Mario; Flavia Pricci; Giuseppe Pugliese
Role of galectin-3 in diabetic nephropathy.
Journal of the American Society of Nephrology : JASN 2003;14(8 Suppl 3):S264-70.
2003: Antonella Olivieri; Stefania De Angelis; V Vaccari; Herbert Valensise; F Magnani; Maria Antonietta Stazi; Rodolfo Cotichini; E Gilardi; Viviana Cordeddu; Mariella Sorcini; Monica Boirivant
Postpartum thyroiditis is associated with fluctuations in transforming growth factor-beta1 serum levels.
The Journal of clinical endocrinology and metabolism 2003;88(3):1280-4.
2002: Antonella Olivieri; Maria Antonietta Stazi; P Mastroiacovo; Cristina Fazzini; Emanuela Medda; A Spagnolo; Stefania De Angelis; Michele E Grandolfo; Domenica Taruscio; Viviana Cordeddu; Mariella Sorcini
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).
The Journal of clinical endocrinology and metabolism 2002;87(2):557-62.
2001: Antonella Olivieri; Graziano Pinna; A Lai; Fernanda Velluzzi; A Pilo; F Atzeni; G Guaita; R Cirillo; Mariella Sorcini; Stefania Carta; Gian Franco Bottazzo; Stefano Mariotti
The sardinian autoimmunity study. 4. Thyroid and islet cell autoantibodies in sardinian pregnant women at delivery: a cross-sectional study.
Journal of endocrinological investigation 2001;24(8):570-4.
2000: Antonella Olivieri; Herbert Valensise; F Magnani; Emanuela Medda; Stefania De Angelis; Massimo D'Archivio; Mariella Sorcini; Stefania Carta; Sara Baccarini; C Romanini
High frequency of antithyroid autoantibodies in pregnant women at increased risk of gestational diabetes mellitus.
European journal of endocrinology / European Federation of Endocrine Societies 2000;143(6):741-7.
2000: R DeVita; Antonella Olivieri; A Spinelli; MG Grollino; L Padovani; G Tarroni; R Cozza; Mariella Sorcini; P Pennelli; G Casparrini; G S Crescenzi; F Mauro; Stefania Carta
Health status and internal radiocontamination assessment in children exposed to the fallout of the Chernobyl accident.
Archives of environmental health 2000;55(3):181-6.
1999: Antonella Olivieri; Cristina Fazzini; Michele E Grandolfo; Emanuela Medda; Maria Antonietta Stazi; Massimo D'Archivio; Stefania De Angelis; Mariella Sorcini
[Congenital forms of hypothyroidism: study of risk factors and preventive interventions].
Annali dell'Istituto superiore di sanità 1999;35(2):273-82.
1998: Carlo Fundarò; Antonella Olivieri; Claudia Rendeli; Orazio Genovese; Alessandra Maria Martino; Massimo D'Archivio; Emanuela Medda; Stefania De Angelis; A Plebani; Filippo Salvini; Mariella Sorcini; G Segni
Occurrence of anti-thyroid autoantibodies in children vertically infected with HIV-1.
Journal of pediatric endocrinology & metabolism : JPEM 1998;11(6):745-50.
1998: Claudio Panunzi; Maria Luisa Manca-Bitti; A Di Paolo; R Fabbrini; Dario Valle; Gilberto Spadoni; E Del Duca; Rinaldo Guglielmi; M Valente; A Finocchi; S Vitale; F Dituri; M Valenti; N Bauzulli; Antonella Olivieri; E Gilardi; Massimo D'Archivio; Mariella Sorcini; Brunetto Boscherini
[Goiter prevalence and urinary excretion of iodine in a sample of school age children in the city of Rome].
Annali dell'Istituto superiore di sanità 1998;34(3):409-12.
1998: Roberto Miniero; Massimo D'Archivio; Antonella Olivieri; Stefania De Angelis; Mariella Sorcini
[Effects of the combined deficiency of selenium and iodine on thyroid function].
Annali dell'Istituto superiore di sanità 1998;34(3):349-55.
1998: Pietro Costa; L Sambuco; Antonella Olivieri; Cristina Fazzini; Mariella Sorcini; V Vendemmiati; F Valentini; Lidia Moschini
[Re-evaluation of the diagnosis in congenital hypothyroidism].
Annali dell'Istituto superiore di sanità 1998;34(3):343-7.
1998: Antonella Olivieri; Cristina Fazzini; Michele E Grandolfo; Emanuela Medda; Maria Antonietta Stazi; Massimo D'Archivio; Stefania De Angelis; Mariella Sorcini
[Transient congenital hypothyroidism in iodine deficiency areas. Gruppo di Studio per il Registro Nazionale degli Ipotiroidei Congeniti].
Annali dell'Istituto superiore di sanità 1998;34(3):331-6.
1997: Antonella Olivieri; F Magnani; Herbert Valensise; Massimo D'Archivio; Emanuela Medda; Sara Baccarini; Mariella Sorcini; C Romanini
Thyroid autoimmunity in pregnant women at risk for GDM.
Annali dell'Istituto superiore di sanità 1997;33(3):447-50.
1994: Serafina Salvati; L Attorri; L M Campeggi; Antonella Olivieri; Mariella Sorcini; Stefano Fortuna; A Pintor
Effect of propylthiouracil-induced hypothyroidism on cerebral cortex of young and aged rats: lipid composition of synaptosomes, muscarinic receptor sites, and acetylcholinesterase activity.
Neurochemical research 1994;19(9):1181-6.
1994: Michele E Grandolfo; Luciano Sagliocca; Maria Antonietta Stazi; Emanuela Medda; Antonella Olivieri; Mariella Sorcini
[The evaluation of the risk factors for congenital hypothyroidism: the outlook of a case-control study].
Annali dell'Istituto superiore di sanità 1994;30(3):295-8.
1994: P Balestrazzi; Mariella Sorcini; Michele E Grandolfo; M E Lorenzetti; G Giovannelli
[The association between hypothyroidism and other congenital defects. The experience of the National Registry in 1987-1992].
Annali dell'Istituto superiore di sanità 1994;30(3):289-93.
1994: Mariella Sorcini; Cristina Fazzini; Antonella Olivieri; Michele E Grandolfo; Emanuela Medda; Maria Antonietta Stazi; P Balestrazzi; G Giovannelli; S Carta
[Neonatal screening in congenital hypothyroidism in Italy. The National Registry].
Annali dell'Istituto superiore di sanità 1994;30(3):275-87.
1993: Serafina Salvati; L M Campeggi; Mariella Sorcini; Antonella Olivieri; Assunta Maria Di Biase
Effect of propylthiouracil-induced hypothyroidism on membranes of adult rat brain.
Lipids 1993;28(12):1075-8.
1993: Mariella Sorcini; P Balestrazzi; Michele E Grandolfo; S Carta; G Giovannelli
The National Register of infants with congenital hypothyroidism detected by neonatal screening in Italy.
Journal of endocrinological investigation 1993;16(8):573-7.
1993: Antonella Olivieri; Mariella Sorcini; P Battisti; Cristina Fazzini; E Gilardi; Y Sun; Emanuela Medda; Michele E Grandolfo; G Tossini; S Natili
Thyroid hypofunction related with the progression of human immunodeficiency virus infection.
Journal of endocrinological investigation 1993;16(6):407-13.
1993: S Carta; Antonella Olivieri; Mariella Sorcini; Emanuela Medda; Cristina Fazzini; P Battisti; I Sorcini; Michele E Grandolfo
Endocrine response to HIV infection. Involvement of thyroid gland.
Annali dell'Istituto superiore di sanità 1993;29(3):451-6.
1991: S Carta; Michele E Grandolfo; L Moschini; Antonella Olivieri; Anna Velia Stazi; Cristina Fazzini; P Battisti; F Timperi; Mariella Sorcini
[Congenital hypothyroidism: organization and coordination of neonatal screening in Italy].
Annali dell'Istituto superiore di sanità 1991;27(2):311-8.
1990: Mariella Sorcini; Michele E Grandolfo; Cristina Fazzini; Anna Velia Stazi; G Giovannelli; P Balestrazzi; S Carta
Three years of experience of the congenital hypothyroidism National Register.
Thyroidology / A.P.R.I.M 1990;2(3):121-3.
1988: Antonio Alberto Zuppa; A Tornesello; Patrizia Papacci; Giuseppe Tortorolo; Giuseppe Segni; G Lafuenti; E Moneta; A Diodato; Mariella Sorcini; S Carta
Relationship between maternal parity, basal prolactin levels and neonatal breast milk intake.
Biology of the neonate 1988;53(3):144-7.
1985: A Albertini; G Bugiardini; S Carta; G Giovannelli; Michele E Grandolfo; A Pinchera; L Sereni Piceni; Mariella Sorcini; S Tomarchio; S Varrone
External quality control for neonatal thyroid screening.
Journal of endocrinological investigation 1985;8(5):485-6.
1980: R Dominici; G B Salabé; A Diodato; Mariella Sorcini; M G di Iorio; S Carta
Immunochemical properties of trypsin fragments of human thyroglobulin.
Acta endocrinologica 1980;94(2):188-95.