Resultats de la cerca - Isabella Torrente

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  1. 1
    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

    Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification per Alessandro De Luca, Irene Bottillo, Maria Cecilia D’Asdia, Annunziata Morella, Valentina Lanari, Laura Bernardini, Luigina Divona, Sandra Giustini, Lorenzo Sinibaldi, Antonio Novelli, Isabella Torrente, Annalisa Schirinzi, Bruno Dallapiccola

    Publicat 2007
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  2. 2
    Type 2 Deiodinase Polymorphism (Threonine 92 Alanine) Predicts l-Thyroxine Dose to Achieve Target Thyrotropin Levels in Thyroidectomized Patients

    Type 2 Deiodinase Polymorphism (Threonine 92 Alanine) Predicts l-Thyroxine Dose to Achieve Target Thyrotropin Levels in Thyroidectomized Patients per Massimo Torlontano, Cosimo Durante, Isabella Torrente, Umberto Crocetti, Giovanni Augello, Giuseppe Ronga, Teresa Montesano, Laura Travascio, Antonella Verrienti, Rocco Bruno, Stefano Angelo Santini, P D'Arcangelo, Bruno Dallapiccola, Sébastiano Filetti, Vincenzo Trischitta

    Publicat 2007
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  3. 3
    ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

    ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression per Anna Guarini, M Marinelli, Simona Tavolaro, Emanuele Bellacchio, M. Magliozzi, Sabina Chiaretti, M. S. De Propris, Nadia Peragine, Simona Santangelo, Francesca Paoloni, M. Nanni, Ilaria Del Giudice, Francesca Romana Mauro, Isabella Torrente, R. Foà

    Publicat 2011
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  4. 4
    Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

    Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies per Eloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, Clara Malattia, Andrea Pilotto, Emanuele Porcu, Eliana Disabella, Nicola Marziliano, Angela Pisani, Luca Lanzarini, Savina Mannarino, Daniela Larizza, Mario Mosconi, Elena Antoniazzi, M. C. Zoia, Giulia Meloni, Lorenzo Magrassi, Agnese Brega, Maria Francesca Bedeschi, Isabella Torrente, Francesca Mari, Luigi Tavazzi

    Publicat 2005
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  5. 5
    p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

    p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas per Valentina Pinna, Valentina Lanari, Paola Daniele, Federica Consoli, Emanuele Agolini, Katia Margiotti, Irene Bottillo, Isabella Torrente, Alessandro Bruselles, Caterina Fusilli, Anna Ficcadenti, Sara Bargiacchi, Eva Trevisson, Monica Forzan, Sandra Giustini, Chiara Leoni, Giuseppe Zampino, M. Cristina Digilio, Bruno Dallapiccola, Maurizio Clementi, Marco Tartaglia, Alessandro De Luca

    Publicat 2014
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  6. 6
    DNA Methylation in the Diagnosis of Monogenic Diseases

    DNA Methylation in the Diagnosis of Monogenic Diseases per Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia Maria Sirchia, Gabriella Maria Squeo, Silvia Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio

    Publicat 2020
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  7. 7
    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome per Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez

    Publicat 2020
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