Works by Giordano, Mara

Results: 49
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    The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020, v. 21, n. 3/4, p. 273, doi. 10.1080/21678421.2019.1704011
    By:
    • Corrado, Lucia;
    • Pensato, Viviana;
    • Croce, Roberta;
    • Di Pierro, Alice;
    • Mellone, Simona;
    • Dalla Bella, Eleonora;
    • Salsano, Ettore;
    • Paraboschi, Elvezia Maria;
    • Giordano, Mara;
    • Saraceno, Massimo;
    • Mazzini, Letizia;
    • Gellera, Cinzia;
    • D'Alfonso, Sandra
    Publication type:
    Article
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    Metabolomics Diagnosis of COVID-19 from Exhaled Breath Condensate.

    Published in:
    Metabolites (2218-1989), 2021, v. 11, n. 12, p. 847, doi. 10.3390/metabo11120847
    By:
    • Barberis, Elettra;
    • Amede, Elia;
    • Khoso, Shahzaib;
    • Castello, Luigi;
    • Sainaghi, Pier Paolo;
    • Bellan, Mattia;
    • Balbo, Piero Emilio;
    • Patti, Giuseppe;
    • Brustia, Diego;
    • Giordano, Mara;
    • Rolla, Roberta;
    • Chiocchetti, Annalisa;
    • Romani, Giorgia;
    • Manfredi, Marcello;
    • Vaschetto, Rosanna
    Publication type:
    Article
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    A Functional Common Polymorphism in the Vitamin D-Responsive Element of the GH1 Promoter Contributes to Isolated Growth Hormone Deficiency.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 1005, doi. 10.1210/jc.2007-1918
    By:
    • Giordano, Mara;
    • Godi, Michela;
    • Mellone, Simona;
    • Petri, Antonella;
    • Vivenza, Daniela;
    • Tiradani, Luigi;
    • Carlomagno, Yari;
    • Ferrante, Daniela;
    • Arrigo, Teresa;
    • Corneli, Ginevra;
    • Bellone, Simonetta;
    • Giacopelli, Francesca;
    • Santoro, Claudio;
    • Bona, Gianni;
    • Momigliano-Richiardi, Patricia
    Publication type:
    Article
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    Long-term sequelae are highly prevalent one year after hospitalization for severe COVID-19.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01215-4
    By:
    • Bellan, Mattia;
    • Baricich, Alessio;
    • Patrucco, Filippo;
    • Zeppegno, Patrizia;
    • Gramaglia, Carla;
    • Balbo, Piero Emilio;
    • Carriero, Alessandro;
    • Amico, Chiara Santa;
    • Avanzi, Gian Carlo;
    • Barini, Michela;
    • Battaglia, Marco;
    • Bor, Simone;
    • Cantaluppi, Vincenzo;
    • Cappellano, Giuseppe;
    • Ceruti, Federico;
    • Chiocchetti, Annalisa;
    • Clivati, Elisa;
    • Giordano, Mara;
    • Cuneo, Daria;
    • Gambaro, Eleonora
    Publication type:
    Article
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    Correction: Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study.

    Published in:
    PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130109
    By:
    • Matullo, Giuseppe;
    • Guarrera, Simonetta;
    • Betti, Marta;
    • Fiorito, Giovanni;
    • Ferrante, Daniela;
    • Voglino, Floriana;
    • Cadby, Gemma;
    • Di Gaetano, Cornelia;
    • Rosa, Fabio;
    • Russo, Alessia;
    • Hirvonen, Ari;
    • Casalone, Elisabetta;
    • Tunesi, Sara;
    • Padoan, Marina;
    • Giordano, Mara;
    • Aspesi, Anna;
    • Casadio, Caterina;
    • Ardissone, Francesco;
    • Ruffini, Enrico;
    • Betta, Pier Giacomo
    Publication type:
    Article
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    Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study.

    Published in:
    PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061253
    By:
    • Matullo, Giuseppe;
    • Guarrera, Simonetta;
    • Betti, Marta;
    • Fiorito, Giovanni;
    • Ferrante, Daniela;
    • Voglino, Floriana;
    • Cadby, Gemma;
    • Di Gaetano, Cornelia;
    • Rosa, Fabio;
    • Russo, Alessia;
    • Hirvonen, Ari;
    • Casalone, Elisabetta;
    • Tunesi, Sara;
    • Padoan, Marina;
    • Giordano, Mara;
    • Aspesi, Anna;
    • Casadio, Caterina;
    • Ardissone, Francesco;
    • Ruffini, Enrico;
    • Betta, Pier Giacomo
    Publication type:
    Article
    13

    Immunoproteasome LMP2 60HH Variant Alters MBP Epitope Generation and Reduces the Risk to Develop Multiple Sclerosis in Italian Female Population.

    Published in:
    PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009287
    By:
    • Mishto, Michele;
    • Bellavista, Elena;
    • Ligorio, Claudia;
    • Textoris-Taube, Kathrin;
    • Santoro, Aurelia;
    • Giordano, Mara;
    • D'Alfonso, Sandra;
    • Listi`, Florinda;
    • Nacmias, Benedetta;
    • Cellini, Elena;
    • Leone, Maurizio;
    • Grimaldi, Luigi M.E.;
    • Fenoglio, Chiara;
    • Esposito, Federica;
    • Martinelli-Boneschi, Filippo;
    • Galimberti, Daniela;
    • Scarpini, Elio;
    • Seifert, Ulrike;
    • Amato, Maria Pia;
    • Caruso, Calogero
    Publication type:
    Article
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    Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

    Published in:
    Clinical Endocrinology, 2015, v. 83, n. 6, p. 849, doi. 10.1111/cen.12849
    By:
    • De Rienzo, Francesca;
    • Mellone, Simona;
    • Bellone, Simonetta;
    • Babu, Deepak;
    • Fusco, Ileana;
    • Prodam, Flavia;
    • Petri, Antonella;
    • Muniswamy, Ranjith;
    • De Luca, Filippo;
    • Salerno, Mariacarolina;
    • Momigliano‐Richardi, Patricia;
    • Bona, Gianni;
    • Giordano, Mara;
    • Ambrosio, Maria Rosaria;
    • Beccaria, Luciano;
    • Bernasconi, Sergio;
    • Bozzola, Mauro;
    • Buzi, Fabio;
    • Capalbo, Donatella;
    • Cavallo, Luciano
    Publication type:
    Article
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    Association of the (CA)<sub>n</sub> repeat polymorphism of insulin-like growth factor-I and −202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency.

    Published in:
    Clinical Endocrinology, 2012, v. 76, n. 5, p. 683, doi. 10.1111/j.1365-2265.2011.04267.x
    By:
    • Miletta, Maria Consolata;
    • Scheidegger, Ursina A.;
    • Giordano, Mara;
    • Bozzola, Mauro;
    • Pagani, Sara;
    • Bona, Gianni;
    • Dattani, Mehul;
    • Hindmarsh, Peter C.;
    • Petkovic, Vibor;
    • Oser-Meier, Monika;
    • Flück, Christa E.;
    • Mullis, Primus-E.
    Publication type:
    Article
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    The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.875182
    By:
    • Mellone, Simona;
    • Puricelli, Chiara;
    • Vurchio, Denise;
    • Ronzani, Sara;
    • Favini, Simone;
    • Maruzzi, Arianna;
    • Peruzzi, Cinzia;
    • Papa, Amanda;
    • Spano, Alice;
    • Sirchia, Fabio;
    • Mandrile, Giorgia;
    • Pelle, Alessandra;
    • Rasmini, Paolo;
    • Vercellino, Fabiana;
    • Zonta, Andrea;
    • Rabbone, Ivana;
    • Dianzani, Umberto;
    • Viri, Maurizio;
    • Giordano, Mara
    Publication type:
    Article
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    The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. 2349, doi. 10.1210/clinem/dgae095
    By:
    • Rapini, Novella;
    • Delvecchio, Maurizio;
    • Mucciolo, Mafalda;
    • Ruta, Rosario;
    • Rabbone, Ivana;
    • Cherubini, Valentino;
    • Zucchini, Stefano;
    • Cianfarani, Stefano;
    • Prandi, Elena;
    • Schiaffini, Riccardo;
    • Bizzarri, Carla;
    • Piccini, Barbara;
    • Maltoni, Giulio;
    • Predieri, Barbara;
    • Minuto, Nicola;
    • Paola, Rossella Di;
    • Giordano, Mara;
    • Tinto, Nadia;
    • Grasso, Valeria;
    • Russo, Lucia
    Publication type:
    Article
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    A Recurrent Signal Peptide Mutation in the Growth Hormone Releasing Hormone Receptor with Defective Translocation to the Cell Surface and Isolated Growth Hormone Deficiency.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 10, p. 3939, doi. 10.1210/jc.2009-0833
    By:
    • Godi, Michela;
    • Mellone, Simona;
    • Petri, Antonella;
    • Arrigo, Teresa;
    • Bardelli, Claudio;
    • Corrado, Lucia;
    • Bellone, Simonetta;
    • Prodam, Flavia;
    • Momigliano-Richiardi, Patricia;
    • Bona, Gianni;
    • Giordano, Mara
    Publication type:
    Article
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    Role of CES1 and ABCB1 Genetic Polymorphisms on Functional Response to Dabigatran in Patients with Atrial Fibrillation.

    Published in:
    Journal of Clinical Medicine, 2024, v. 13, n. 9, p. 2545, doi. 10.3390/jcm13092545
    By:
    • Cumitini, Luca;
    • Renda, Giulia;
    • Giordano, Mara;
    • Rolla, Roberta;
    • Shail, Tarek;
    • Sacchetti, Sara;
    • Iezzi, Lorena;
    • Giacomini, Luca;
    • Zanotti, Valentina;
    • Auciello, Raffaella;
    • Angilletta, Ilaria;
    • Foglietta, Melissa;
    • Zucchelli, Mirco;
    • Antonucci, Ivana;
    • Stuppia, Liborio;
    • Gallina, Sabina;
    • Dianzani, Umberto;
    • Patti, Giuseppe
    Publication type:
    Article
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    Genes and Microbiota Interaction in Monogenic Autoimmune Disorders.

    Published in:
    Biomedicines, 2023, v. 11, n. 4, p. 1127, doi. 10.3390/biomedicines11041127
    By:
    • Costa, Federica;
    • Beltrami, Eleonora;
    • Mellone, Simona;
    • Sacchetti, Sara;
    • Boggio, Elena;
    • Gigliotti, Casimiro Luca;
    • Stoppa, Ian;
    • Dianzani, Umberto;
    • Rolla, Roberta;
    • Giordano, Mara
    Publication type:
    Article
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    Circulating Platelet-Derived Extracellular Vesicles Are a Hallmark of Sars-Cov-2 Infection.

    Published in:
    Cells (2073-4409), 2021, v. 10, n. 1, p. 85, doi. 10.3390/cells10010085
    By:
    • Cappellano, Giuseppe;
    • Raineri, Davide;
    • Rolla, Roberta;
    • Giordano, Mara;
    • Puricelli, Chiara;
    • Vilardo, Beatrice;
    • Manfredi, Marcello;
    • Cantaluppi, Vincenzo;
    • Sainaghi, Pier Paolo;
    • Castello, Luigi;
    • De Vita, Nello;
    • Scotti, Lorenza;
    • Vaschetto, Rosanna;
    • Dianzani, Umberto;
    • Chiocchetti, Annalisa
    Publication type:
    Article
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    Molecular Analysis of the Growth Hormone Releasing Hormone Receptor Gene (GHRH-R) in Isolated Growth Hormone Deficiency: Identification of a Likely Etiological Mutation in the Signal Peptide.

    Published in:
    International Journal on Disability & Human Development (De Gruyter), 2001, v. 2, n. 4, p. 215
    By:
    • Lessi, Monica;
    • Giordano, Mara;
    • Paracchini, Roberta;
    • Petri, Antonella;
    • Federico, Giovanni;
    • Wasniewska, Malgorzata;
    • Pasquino, Anna Maria;
    • Aimaretti, Gianluca;
    • Bona, Gianni;
    • Momigliano-Richiardi, Patricia
    Publication type:
    Article
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    Decreased Gas6 and sAxl Plasma Levels Are Associated with Hair Loss in COVID-19 Survivors.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6257, doi. 10.3390/ijms24076257
    By:
    • Apostolo, Daria;
    • D'Onghia, Davide;
    • Tonello, Stelvio;
    • Minisini, Rosalba;
    • Baricich, Alessio;
    • Gramaglia, Carla;
    • Patrucco, Filippo;
    • Zeppegno, Patrizia;
    • Acquaviva, Antonio;
    • Balbo, Piero Emilio;
    • Castello, Luigi Mario;
    • Cappellano, Giuseppe;
    • Chiocchetti, Annalisa;
    • Gerevini, Chiara;
    • Giordano, Mara;
    • Laaguid, Fatiha;
    • Manfredi, Marcello;
    • Raineri, Davide;
    • Rigamonti, Cristina;
    • Rolla, Roberta
    Publication type:
    Article
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    Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

    Published in:
    Human Mutation, 1995, v. 5, n. 3, p. 228, doi. 10.1002/humu.1380050307
    By:
    • Bayés, Mònica;
    • Giordano, Mara;
    • Balcells, Susana;
    • Grinberg, Daniel;
    • Vilageliu, Llusïsa;
    • Martínez, Immaculada;
    • Ayuso, Carmen;
    • Benítez, Javier;
    • Ramos-Arroyo, María A.;
    • Chivelet, Pilar;
    • Solans, Teresa;
    • Valverde, Diana;
    • Amselem, Serge;
    • Goossens, Michel;
    • Baiget, Montserrat;
    • Gonzàlez-Duarte, Roser;
    • Besmond, Claude
    Publication type:
    Article
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    A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.

    Published in:
    Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1212729
    By:
    • Mancioppi, Valentina;
    • Daffara, Tommaso;
    • Romanisio, Martina;
    • Ceccarini, Giovanni;
    • Pelosini, Caterina;
    • Santini, Ferruccio;
    • Bellone, Simonetta;
    • Mellone, Simona;
    • Baricich, Alessio;
    • Rabbone, Ivana;
    • Aimaretti, Gianluca;
    • Akinci, Baris;
    • Giordano, Mara;
    • Prodam, Flavia
    Publication type:
    Article
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