检索结果 - Marco Di Duca

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  1. 1
    Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

    Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 由 Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco, Roberto Ravazzolo

    出版 2008
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  2. 2
    Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

    Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome 由 Tiziana Bachetti, Ivana Matera, Silvia Borghini, Marco Di Duca, Roberto Ravazzolo, Isabella Ceccherini

    出版 2005
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  3. 3
    Lysyl Oxidase Activates the Transcription Activity of Human Collagene III Promoter

    Lysyl Oxidase Activates the Transcription Activity of Human Collagene III Promoter 由 Monia Giampuzzi, Gerardo Botti, Marco Di Duca, L Arata, Gian Marco Ghiggeri, R Gusmano, Roberto Ravazzolo, Armando Di Donato

    出版 2000
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  4. 4
    Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

    Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated w... 由 Hamid Azzedine, Alessandra Bolino, T. Taïeb, Nazha Birouk, Marco Di Duca, Ahmed Bouhouche, Soufiène Benamou, A. Mrabet, T. Hammadouche, T. Chkili, Riadh Gouider, Roberto Ravazzolo, Alexis Brice, Jocelyn Laporte, Eric LeGuern

    出版 2003
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  5. 5
    Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis

    Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis 由 Gianluca Caridi, Roberta Bertelli, Alba Carrea, Marco Di Duca, Paolo Catarsi, Mary Artero, Michele Carraro, Cristina Zennaro, Giovanni Candiano, Luca Musante, Marco Seri, Fabrizio Ginevri, Francesco Perfumo, Gian Marco Ghiggeri

    出版 2001
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  6. 6
    PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

    PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilati... 由 Ivana Matera, Tiziana Bachetti, Francesca Puppo, Marco Di Duca, Francesco Morandi, Giuseppina Casiraghi, Maria Roberta Cilio, Raoul C. M. Hennekam, Robert M.W. Hofstra, J G Schöber, Roberto Ravazzolo, G. Ottonello, Isabella Ceccherini

    出版 2004
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  7. 7
    Broadening the Spectrum of Diseases Related to Podocin Mutations

    Broadening the Spectrum of Diseases Related to Podocin Mutations 由 Gianluca Caridi, Roberta Bertelli, Marco Di Duca, Monica Dagnino, Francesco Emma, Andrea Onetti Muda, Francesco Scolari, Nunzia Miglietti, Gianna Mazzucco, Luisa Murer, Alba Carrea, Laura Massella, Gianfranco Rizzoni, Francesco Perfumo, Gian Marco Ghiggeri

    出版 2003
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  8. 8
    Neutrophils from patients with <i>TNFRSF1A</i> mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

    Neutrophils from patients with <i>TNFRSF1A</i> mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications 由 Andrea D’Osualdo, Francesca Ferlito, Ignazia Prigione, Laura Obici, Jordi Antón, Francesco Zulian, Alessandra Pontillo, Fabrizia Corona, R Barcellona, Marco Di Duca, Giuseppe Santamaria, Francesco Traverso, Paolo Picco, Maurizia Baldi, Alessandro Plebani, Roberto Ravazzolo, Isabella Ceccherini, Alberto Martini, Marco Gattorno

    出版 2006
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  9. 9
    Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

    Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction 由 Ivana Matera, Marta Rusmini, Yiran Guo, Margherita Lerone, Jiankang Li, Jianguo Zhang, Marco Di Duca, Paolo Nozza, Manuela Mosconi, Alessio Pini Prato, Giuseppe Martucciello, A. Barabino, Francesco Morandi, Roberto De Giorgio, Vincenzo Stanghellini, Roberto Ravazzolo, Marcella Devoto, Hákon Hákonarson, Isabella Ceccherini

    出版 2016
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  10. 10
    Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

    Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation 由 Silvia Borghini, Sara Tassi, Sabrina Chiesa, Francesco Caroli, Sonia Carta, Roberta Caorsi, Michele Fiore, Laura Delfino, Denise Lasigliè, Christopher M. Ferraris, Elisabetta Traggiai, Marco Di Duca, Giuseppe Santamaria, Andrea D’Osualdo, Maria Angela Tosca, Alberto Martini, Isabella Ceccherini, Anna Rubartelli, Marco Gattorno

    出版 2010
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  11. 11
    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

    Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study 由 Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Sımona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello, Federico Zara

    出版 2021
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