Resultats de la cerca - Giuseppe Zampino

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  1. 1
    Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

    Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis per Marco Tartaglia, Giuseppe Zampino, Bruce D. Gelb

    Publicat 2010
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  2. 2
    Epidemiology and genetics of microtia-anotia: a registry based study on over one million births.

    Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. per Pierpaolo Mastroiacovo, Carlo Corchia, L. Botto, R Lanni, Giuseppe Zampino, Danilo Fusco

    Publicat 1995
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  3. 3
    Risk of long Covid in children infected with Omicron or <scp>pre‐Omicron SARS‐CoV</scp>‐2 variants

    Risk of long Covid in children infected with Omicron or <scp>pre‐Omicron SARS‐CoV</scp>‐2 variants per Danilo Buonsenso, Rosa Morello, Francesco Mariani, Cristina De Rose, Luca Mastrantoni, Giuseppe Zampino, Piero Valentini

    Publicat 2023
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  4. 4
    Characteristics and predictors of Long Covid in children: a 3-year prospective cohort study

    Characteristics and predictors of Long Covid in children: a 3-year prospective cohort study per Anna Camporesi, Rosa Morello, Anna Rocca, Giuseppe Zampino, Federico Vezzulli, Daniel Munblit, Francesca Raffaelli, Piero Valentini, Danilo Buonsenso

    Publicat 2024
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  5. 5
    Risk factors for post-COVID-19 condition (Long Covid) in children: a prospective cohort study

    Risk factors for post-COVID-19 condition (Long Covid) in children: a prospective cohort study per Rosa Morello, Francesco Mariani, Luca Mastrantoni, Cristina De Rose, Giuseppe Zampino, Daniel Munblit, Louise Sigfrid, Piero Valentini, Danilo Buonsenso

    Publicat 2023
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  6. 6
    Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

    Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome per Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino

    Publicat 2013
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  7. 7
    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? per Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, M. Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey, Bruno Dallapiccola

    Publicat 2009
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  8. 8
    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype per Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sárközy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Publicat 2006
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  9. 9
    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

    Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations per Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni, Claudio Carta, Francesca Romana Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, M. Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Bruno Dallapiccola

    Publicat 2009
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  10. 10
    Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

    Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease per Marco Tartaglia, Simone Martinelli, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Viviana Cordeddu, Giuseppe Zampino, Ineke van der Burgt, Antonio Palleschi, Tamara C. Petrucci, M Sorcini, Claudia Schoch, Robin Foà, Peter D. Emanuel, Bruce D. Gelb

    Publicat 2006
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  11. 11
    Recovering or Persisting: The Immunopathological Features of SARS-CoV-2 Infection in Children

    Recovering or Persisting: The Immunopathological Features of SARS-CoV-2 Infection in Children per Danilo Buonsenso, Piero Valentini, Cristina De Rose, Maria Tredicine, Maria del Carmen Pereyra Boza, Chiara Camponeschi, Rosa Morello, Giuseppe Zampino, Anna E. S. Brooks, Mario Rende, Francesco Ria, Maurizio Sanguinetti, Giovanni Delogu, Michela Sali, Gabriele Di Sante

    Publicat 2022
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  12. 12
    Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy

    Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy per Marta Bértoli, G. Biasini, M. T. Calignano, G. Celani, Georgio Grossi, M. Cristina Digilio, C. C. Fermariello, G. Loffredo, F. Luchino, Anna Marchese, Stefania Mazotti, B. Menghi, C. Razzano, C. Tiano, A. Zambon Hobart, Giuseppe Zampino, Giuseppe Zuccalà

    Publicat 2011
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  13. 13
    Long-Term Outcomes of Pediatric Infections: From Traditional Infectious Diseases to Long Covid

    Long-Term Outcomes of Pediatric Infections: From Traditional Infectious Diseases to Long Covid per Danilo Buonsenso, Leonardo Di Gennaro, Cristina De Rose, Rosa Morello, Federico D’Ilario, Giuseppe Zampino, Michele Piazza, Attilio Boner, Cecilia Iraci, Sarah O’Connell, Valentina B Cohen, Susanna Esposito, Daniel Munblit, Reena Joseph, Louise Sigfrid, Piero Valentini

    Publicat 2022
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  14. 14
    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome per Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

    Publicat 2005
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  15. 15
    Post-COVID Condition in Adults and Children Living in the Same Household in Italy: A Prospective Cohort Study Using the ISARIC Global Follow-Up Protocol

    Post-COVID Condition in Adults and Children Living in the Same Household in Italy: A Prospective Cohort Study Using the ISARIC Global Follow-Up Protocol per Danilo Buonsenso, Daniel Munblit, Ekaterina Pazukhina, Antonia Ricchiuto, Dario Sinatti, Margherita Zona, Alessia De Matteis, Federico D’Ilario, Carolina Gentili, Roberta Lanni, Teresa Rongai, Patrizia del Balzo, Maria Teresa Fonte, Michele Valente, Giuseppe Zampino, Cristina De Rose, Louise Sigfrid, Piero Valentini

    Publicat 2022
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  16. 16
    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome

    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome per Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia

    Publicat 2006
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  17. 17
    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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  18. 18
    UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants

    UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants per Sara Manti, Annamaria Staiano, Luigi Orfeo, Fabio Midulla, Gian Luigi Marseglia, Chiara Ghizzi, Stefania Zampogna, Virgilio Carnielli, Silvia Favilli, Martino Ruggieri, Domenico Perri, Giuseppe Di Mauro, Guido Castelli Gattinara, Antonio D’Avino, Paolo Becherucci, Arcangelo Prete, Giuseppe Zampino, Marcello Lanari, Paolo Biban, Paolo Manzoni, Susanna Esposito, Giovanni Corsello, Eugenio Baraldi

    Publicat 2023
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  19. 19
    Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

    Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome per Lisenka E.L.M. Vissers, Monica Bonetti, Jeroen Overman, Willy M. Nillesen, Suzanna G.M. Frints, Joep de Ligt, Giuseppe Zampino, Ana Justino, José Carlos Machado, Marga Schepens, Han G. Brunner, Joris A. Veltman, Hans Scheffer, Piet Gros, José Luís Costa, Marco Tartaglia, Ineke van der Burgt, Helger G. Yntema, Jeroen den Hertog

    Publicat 2014
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  20. 20
    Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

    Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome per Christiane K. Bauer, Paolo Calligari, Francesca Clementina Radio, Viviana Caputo, Maria Lisa Dentici, N Falah, Frances A. High, Francesca Pantaleoni, Sabina Barresi, Andrea Ciolfi, Simone Pizzi, Alessandro Bruselles, Richard Person, Sarah Richards, Megan T. Cho, Daniela Judith Claps Sepulveda, S. Pro, Roberta Battini, Giuseppe Zampino, M. Cristina Digilio, Gianfranco Bocchinfuso, Bruno Dallapiccola, Lorenzo Stella, Marco Tartaglia

    Publicat 2018
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