نتائج البحث - Giovanna Weber
- يعرض 1 - 20 نتائج من 21
- اذهب إلى الاصفحة التالية
-
1
-
2
-
3
-
4
-
5
Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroi... حسب Antonella Olivieri, Carlo Corbetta, Giovanna Weber, Maria Cristina Vigone, Cristina Fazzini, Emanuela Medda
منشور في 2013Artigo -
6
-
7
Persistent mild hypothyroidism associated with novel sequence variants of theDUOX2 gene in two siblings حسب Maria Cristina Vigone, Laura Fugazzola, I. Zamproni, Arianna Passoni, Stefania Di Candia, G Chiumello, Luca Persani, Giovanna Weber
منشور في 2005Artigo -
8
Molecular Analysis of the Pendred’s Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred’s Syndrome1 حسب Laura Fugazzola, Deborah Mannavola, Nadia Cerutti, Mohamad Maghnie, Fabio Pagella, Paolo Bianchi, Giovanna Weber, Luca Persani, Paolo Beck‐Peccoz
منشور في 2000Artigo -
9
Congenital Hypothyroidism With Eutopic Thyroid Gland: Analysis of Clinical and Biochemical Features at Diagnosis and After Re-Evaluation حسب Sarah Rabbiosi, Maria Cristina Vigone, Francesca Cortinovis, I. Zamproni, Laura Fugazzola, Luca Persani, Carlo Corbetta, G Chiumello, Giovanna Weber
منشور في 2013Artigo -
10
Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gsα Gene حسب Giovanna Mantovani, Mohamad Maghnie, Giovanna Weber, Ernesto De Menis, Valeria Brunelli, Marco Cappa, Paola Loli, Paolo Beck‐Peccoz, Anna Spada
منشور في 2003Artigo -
11
Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism حسب Luisella Alberti, Maria Carla Proverbio, Sabine Costagliola, Roberto Romoli, Benedetta Boldrighini, Maria Cristina Vigone, Giovanna Weber, G Chiumello, Paolo Beck‐Peccoz, Luca Persani
منشور في 2002Artigo -
12
Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism حسب I. Zamproni, Helmut Grasberger, Francesca Cortinovis, Maria Cristina Vigone, G Chiumello, Stefano Mora, Kazumichi Onigata, Laura Fugazzola, Samuel Refetoff, Luca Persani, Giovanna Weber
منشور في 2007Artigo -
13
Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked حسب Jacob M. Rosenberg, Maria Elena Maccari, Federica Barzaghi, Eric J. Allenspach, Claudio Pignata, Giovanna Weber, Troy R. Torgerson, Paul J. Utz, Rosa Bacchetta
منشور في 2018Artigo -
14
The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects حسب Marina Muzza, Sarah Rabbiosi, Maria Cristina Vigone, I. Zamproni, Valentina Cirello, Maria Antonia Maffini, Katia Maruca, Nadia Schoenmakers, Luciano Beccaria, Francesco Gallo, S.-M. Park, P. Beck‐Peccoz, Luca Persani, Giovanna Weber, Laura Fugazzola
منشور في 2014Artigo -
15
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects حسب Tiziana de Filippis, Federica Marelli, Gabriella Nebbia, Patrizia Porazzi, Sabrina Corbetta, Laura Fugazzola, Roberto Gastaldi, Maria Cristina Vigone, Roberta Biffanti, Daniela Frizziero, Luana Mandarà, Paolo Prontera, Mariacarolina Salerno, Mohamad Maghnie, Natascia Tiso, Giorgio Radetti, Giovanna Weber, Luca Persani
منشور في 2016Artigo -
16
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia حسب Davide Calebiro, Giulia Gelmini, Daniela Cordella, Marco Bonomi, Franziska Winkler, Heike Biebermann, Alessandro De Marco, Federica Marelli, Domenico Libri, Francesco Antonica, Maria Cristina Vigone, Marco Cappa, Caterina Mian, Alessandro Sartório, Paolo Beck‐Peccoz, Giorgio Radetti, Giovanna Weber, Luca Persani
منشور في 2011Artigo -
17
Accuracy of Fine Needle Aspiration Biopsy of Thyroid Nodules in Detecting Malignancy in Childhood: Comparison with Conventional Clinical, Laboratory, and Imaging Approaches حسب Andrea Corrias, S. Einaudi, E Chiorboli, Giovanna Weber, Antonino Crinò, María Andreo Galera, G Cesaretti, Luisa De Sanctis, Maria Francesca Messina, Mattia Di Segni, M. Giulia Cicchetti, Maria Cristina Vigone, Anna Maria Pasquino, S. Spera, F. De Luca, G. C. Mussa, Gianni Bona
منشور في 2001Artigo -
18
A frequent oligogenic involvement in congenital hypothyroidism حسب Tiziana de Filippis, Giulia Gelmini, Elvezia Maria Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
منشور في 2017Artigo -
19
X-linked hypophosphatemic rickets: an Italian experts’ opinion survey حسب Francesco Emma, Marco Cappa, Franco Antoniazzi, Maria Luisa Bianchi, Iacopo Chiodini, Cristina Eller Vainicher, Natascia Di Iorgi, Mohamad Maghnie, Alessandra Cassio, Antonio Balsamo, Federico Baronio, Luisa De Sanctis, Daniele Tessaris, Giampiero I. Baroncelli, Stefano Mora, Maria Luisa Brandi, Giovanna Weber, A D’Ausilio, E. P. Lanati
منشور في 2019Artigo -
20
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome حسب Cinzia Mazza, Fabio Buzi, Federica Ortolani, Alberto Vitali, Lucia Dora Notarangelo, Giovanna Weber, Rosa Bacchetta, Annarosa Soresina, Vassilios Lougaris, Nella Augusta Greggio, Andrea Taddio, Srdjan Pašić, Monique De Vroede, Małgorzata Pac, Sara Şebnem Kılıç, Ozden Sanal, Roberto Rusconi, Silvana Martino, Donatella Capalbo, Mariacarolina Salerno, Claudio Pignata, Giorgio Radetti, Giuseppe Maggiore, Alessandro Plebani, Luigi D. Notarangelo, Raffaele Badolato
منشور في 2011Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Internal medicine
Endocrinology
Thyroid
Biology
Genetics
Congenital hypothyroidism
Gene
Pediatrics
Pathology
Disease
Immunology
Mutation
Compound heterozygosity
Gastroenterology
Missense mutation
Nonsense mutation
Organification
Proband
Allele
Antibody
Bone disease
Bone mineral
Chemistry
Coeliac disease
Environmental health
Etiology
Gluten
Gluten free
Goiter