Resultados de procura - Giuseppe Zampino
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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome por Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino
Publicado 2013Artigo -
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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? por 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
Publicado 2009Artigo -
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Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype por 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
Publicado 2006Artigo -
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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations por 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
Publicado 2009Artigo -
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Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease por 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
Publicado 2006Artigo -
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Recovering or Persisting: The Immunopathological Features of SARS-CoV-2 Infection in Children por 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
Publicado 2022Artigo -
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Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy por 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
Publicado 2011Artigo -
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Long-Term Outcomes of Pediatric Infections: From Traditional Infectious Diseases to Long Covid por 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
Publicado 2022Revisão -
14
NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome por 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
Publicado 2005Artigo -
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 por 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
Publicado 2022Artigo -
16
Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome por 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
Publicado 2006Artigo -
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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas por 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
Publicado 2014Artigo -
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UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants por 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
Publicado 2023Revisão -
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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome por 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
Publicado 2014Artigo -
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Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome por 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
Publicado 2018Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Genetics
Gene
Mutation
Medicine
Phenotype
Missense mutation
Noonan syndrome
Cancer research
Internal medicine
KRAS
PTPN11
Costello syndrome
Pediatrics
Cell biology
Disease
Germline
Germline mutation
Coronavirus disease 2019 (COVID-19)
Infectious disease (medical specialty)
Pathology
Prospective cohort study
Cohort
Computational biology
Psychiatry
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
Signal transduction
Biochemistry
Cohort study
Exon