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ArticlesPeer ReviewedFull Text
UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants
Author / Creator:Manti, Sara ; Staiano, Annamaria ; Orfeo, Luigi ; Midulla, Fabio ; Marseglia, Gian Luigi ; Ghizzi, Chiara ; Zampogna, Stefania ; Carnielli, Virgilio Paolo ; Favilli, Silvia ; Ruggieri, Martino ; Perri, Domenico ; Di Mauro, Giuseppe ; Gattinara, Guido Castelli ; D’Avino, Antonio ; Becherucci, Paolo ; Prete, Arcangelo ; Zampino, Giuseppe ; Lanari, Marcello ; Biban, Paolo ; Manzoni, Paolo ; Esposito, Susanna ; Corsello, Giovanni ; Baraldi, Eugenio
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2023-02, Vol.49 (1), p.19-18, Article 19
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Short- and mid-term multidisciplinary outcomes of newborns exposed to SARS-CoV-2 in utero or during the perinatal period: preliminary findings
Author / Creator:Buonsenso Danilo ; Costa, Simonetta ; Giordano, Lucia ; Priolo Francessca ; Colonna, Arianna Turriziani ; Morini Sofia ; Sbarbati Martina ; Pata Davide ; Acampora, Anna ; Conti, Guido ; Crudo Fabrizio ; Cantiani Alessandro ; Martina, Bianca Maria ; Amorelli, Giulia Maria ; Orazi Lorenzo ; Petrianni, Maria ; Ricci, Daniela ; Lanzone Antonio ; Sanguinetti Maurizio ; Cattani, Paola ; Sali Michela ; Romeo Domenico ; Zampino Giuseppe ; Vento Giovanni ; Valentini Piero
Publisher:Berlin: Springer Nature B.V
Journal title:European journal of pediatrics, 2022-04, Vol.181 (4), p.1507-1520
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Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?
Author / Creator:Onesimo Roberta ; Proli Francesco ; Leoni Chiara ; Contaldo Ilaria ; Salerni Annabella ; Conti, Guido ; Tartaglia, Marco ; Zampino Giuseppe
Publisher:New York: Springer Nature B.V
Journal title:Obesity surgery, 2021-01, Vol.31 (1), p.445-450
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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Author / Creator:Leoni, Chiara ; Romeo, Domenico Marco ; Pelliccioni, Michele ; Di Già, Mariangela ; Onesimo, Roberta ; Giorgio, Valentina ; Flex, Elisabetta ; Tedesco, Marta ; Tartaglia, Marco ; Rigante, Donato ; Valassina, Antonio ; Zampino, Giuseppe
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.43-10, Article 43
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Author / Creator:Cordeddu, Viviana ; Di Schiavi, Elia ; Pennacchio, Len A ; Ma'ayan, Avi ; Sarkozy, Anna ; Fodale, Valentina ; Cecchetti, Serena ; Cardinale, Alessio ; Martin, Joel ; Schackwitz, Wendy ; Lipzen, Anna ; Zampino, Giuseppe ; Mazzanti, Laura ; Digilio, Maria C ; Martinelli, Simone ; Flex, Elisabetta ; Lepri, Francesca ; Bartholdi, Deborah ; Kutsche, Kerstin ; Ferrero, Giovanni B ; Anichini, Cecilia ; Selicorni, Angelo ; Rossi, Cesare ; Tenconi, Romano ; Zenker, Martin ; Merlo, Daniela ; Dallapiccola, Bruno ; Iyengar, Ravi ; Bazzicalupo, Paolo ; Gelb, Bruce D ; Tartaglia, Marco
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-09, Vol.41 (9), p.1022-1026
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Author / Creator:Di Fede Elisabetta ; Massa Valentina ; Augello Bartolomeo ; Squeo Gabriella ; Scarano Emanuela ; Perri, Anna Maria ; Fischetto Rita ; Causio, Francesco Andrea ; Zampino Giuseppe ; Piccione, Maria ; Curridori Elena ; Mazza Tommaso ; Castellana Stefano ; Larizza Lidia ; Ghelma Filippo ; Colombo, Elisa Adele ; Gandini, Maria Chiara ; Castori Marco ; Merla Giuseppe ; Milani Donatella ; Gervasini Cristina
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.88-98
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Role of nutrient supplements in children with post-COVID condition: a retrospective preliminary observation and narrative review
Author / Creator:Morello, Rosa ; De Rose, Cristina ; Martino, Laura ; Raffaelli, Francesca ; Zampino, Giuseppe ; Valentini, Piero ; Buonsenso, Danilo
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2025-04, Vol.51 (1), p.119-8, Article 119
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A restricted spectrum of NRAS mutations causes Noonan syndrome
Author / Creator:Cirstea, Ion C ; Kutsche, Kerstin ; Dvorsky, Radovan ; Gremer, Lothar ; Carta, Claudio ; Horn, Denise ; Roberts, Amy E ; Lepri, Francesca ; Merbitz-Zahradnik, Torsten ; König, Rainer ; Kratz, Christian P ; Pantaleoni, Francesca ; Dentici, Maria L ; Joshi, Victoria A ; Kucherlapati, Raju S ; Mazzanti, Laura ; Mundlos, Stefan ; Patton, Michael A ; Silengo, Margherita Cirillo ; Rossi, Cesare ; Zampino, Giuseppe ; Digilio, Cristina ; Stuppia, Liborio ; Seemanova, Eva ; Pennacchio, Len A ; Gelb, Bruce D ; Dallapiccola, Bruno ; Wittinghofer, Alfred ; Ahmadian, Mohammad R ; Tartaglia, Marco ; Zenker, Martin
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-01, Vol.42 (1), p.27-29
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ArticlesPeer ReviewedFull Text
Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature
Author / Creator:Onesimo, Roberta ; Agazzi, Cristiana ; Massimi, Luca ; Giorgio, Valentina ; Leoni, Chiara ; Zampino, Giuseppe ; Rendeli, Claudia
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2023-07, Vol.49 (1), p.89-5, Article 89
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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Author / Creator:Tartaglia, Marco ; Pennacchio, Len A ; Zhao, Chen ; Yadav, Kamlesh K ; Fodale, Valentina ; Sarkozy, Anna ; Pandit, Bhaswati ; Oishi, Kimihiko ; Martinelli, Simone ; Schackwitz, Wendy ; Ustaszewska, Anna ; Martin, Joel ; Bristow, James ; Carta, Claudio ; Lepri, Francesca ; Neri, Cinzia ; Vasta, Isabella ; Gibson, Kate ; Curry, Cynthia J ; Siguero, Juan Pedro López ; Digilio, Maria Cristina ; Zampino, Giuseppe ; Dallapiccola, Bruno ; Bar-Sagi, Dafna ; Gelb, Bruce D
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-01, Vol.39 (1), p.75-79
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A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment
Author / Creator:Trevisan, Valentina ; De Corso, Eugenio ; Viscogliosi, Germana ; Onesimo, Roberta ; Cina, Alessandro ; Panfili, Marco ; Perri, Lucrezia ; Agazzi, Cristiana ; Giorgio, Valentina ; Rigante, Donato ; Vento, Giovanni ; Papacci, Patrizia ; Paradiso, Filomena Valentina ; Silvaroli, Sara ; Nanni, Lorenzo ; Resta, Nicoletta ; Castori, Marco ; Galli, Jacopo ; Paludetti, Gaetano ; Zampino, Giuseppe ; Leoni, Chiara
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.276-16, Article 276
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Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports
Author / Creator:Onesimo, Roberta ; Santis, Rita De ; Leoni, Chiara ; Rigante, Mario ; Piastra, Marco ; Sforza, Elisabetta ; Selicorni, Angelo ; Zampino, Giuseppe
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2023-07, Vol.49 (1), p.85-3, Article 85
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Multidisciplinary Management of Costello Syndrome: Current Perspectives
Author / Creator:Leoni, Chiara ; Viscogliosi, Germana ; Tartaglia, Marco ; Aoki, Yoko ; Zampino, Giuseppe
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Journal of multidisciplinary healthcare, 2022-01, Vol.15, p.1277-1296
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Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 It...
Author / Creator:Serra, Gregorio ; Memo, Luigi ; Coscia, Alessandra ; Giuffré, Mario ; Iuculano, Ambra ; Lanna, Mariano ; Valentini, Diletta ; Contardi, Anna ; Filippeschi, Sauro ; Frusca, Tiziana ; Mosca, Fabio ; Ramenghi, Luca A. ; Romano, Corrado ; Scopinaro, Annalisa ; Villani, Alberto ; Zampino, Giuseppe ; Corsello, Giovanni
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2021-04, Vol.47 (1), p.94-9, Article 94
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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Author / Creator:Turco, Elisa Maria ; Giovenale, Angela Maria Giada ; Sireno, Laura ; Mazzoni, Martina ; Cammareri, Alessandra ; Marchioretti, Caterina ; Goracci, Laura ; Di Veroli, Alessandra ; Marchesan, Elena ; D’Andrea, Daniel ; Falconieri, Antonella ; Torres, Barbara ; Bernardini, Laura ; Magnifico, Maria Chiara ; Paone, Alessio ; Rinaldo, Serena ; Della Monica, Matteo ; D’Arrigo, Stefano ; Postorivo, Diana ; Nardone, Anna Maria ; Zampino, Giuseppe ; Onesimo, Roberta ; Leoni, Chiara ; Caicci, Federico ; Raimondo, Domenico ; Binda, Elena ; Trobiani, Laura ; De Jaco, Antonella ; Tata, Ada Maria ; Ferrari, Daniela ; Cutruzzolà, Francesca ; Mazzoccoli, Gianluigi ; Ziviani, Elena ; Pennuto, Maria ; Vescovi, Angelo Luigi ; Rosati, Jessica
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2022-11, Vol.13 (11), p.981-16, Article 981
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Correction to: Short‑ and mid‑term multidisciplinary outcomes of newborns exposed to SARS‑CoV‑2 in utero or during the perinatal period: preliminary findings
Author / Creator:Buonsenso Danilo ; Costa, Simonetta ; Giordano, Lucia ; Priolo Francessca ; Colonna, Arianna Turriziani ; Morini Sofia ; Sbarbati Martina ; Pata Davide ; Acampora, Anna ; Conti, Guido ; Crudo Fabrizio ; Cantiani Alessandro ; Martina, Bianca Maria ; Amorelli, Giulia Maria ; Orazi Lorenzo ; Petrianni, Maria ; Ricci, Daniela ; Lanzone Antonio ; Sanguinetti Maurizio ; Cattani, Paola ; Sali Michela ; Romeo Domenico ; Zampino Giuseppe ; Vento Giovanni ; Valentini Piero
Publisher:Berlin: Springer Nature B.V
Journal title:European journal of pediatrics, 2022-04, Vol.181 (4), p.1521-1522
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Assessing Metabolic Syndrome Risk in Children and Adolescents with Prader–Willi Syndrome: A Comparison of Index Performance
Author / Creator:Grugni, Graziano ; Lupi, Fiorenzo ; Bonetti, Mirko ; Bocchini, Sarah ; Bucolo, Carmen ; Corica, Domenico ; Crinò, Antonino ; Faienza, Maria Felicia ; Fintini, Danilo ; Licenziati, Maria Rosaria ; Maghnie, Mohamad ; Mozzillo, Enza ; Pajno, Roberta ; Zampino, Giuseppe ; Sartorio, Alessandro ; Radetti, Giorgio
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2025-07, Vol.14 (13), p.4716
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Comparison between Short Therapy and Standard Therapy in Pediatric Patients Hospitalized with Urinary Tract Infection: A Single Center Retrospective Analysis
Author / Creator:Buonsenso, Danilo ; Sodero, Giorgio ; Mariani, Francesco ; Lazzareschi, Ilaria ; Proli, Francesco ; Zampino, Giuseppe ; Pierantoni, Luca ; Valentini, Piero ; Rendeli, Claudia
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2022-10, Vol.9 (11), p.1647
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Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics
Author / Creator:Calà, Federico ; Frassineti, Lorenzo ; Sforza, Elisabetta ; Onesimo, Roberta ; D’Alatri, Lucia ; Manfredi, Claudia ; Lanata, Antonio ; Zampino, Giuseppe
Publisher:Switzerland: MDPI AG
Journal title:Bioengineering (Basel), 2023-11, Vol.10 (12), p.1375
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Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
Author / Creator:L’Erario, Federica Francesca ; Gazzellone, Annalisa ; Contaldo, Ilaria ; Veredice, Chiara ; Carapelle, Marina ; Renzi, Anna Gloria ; Modafferi, Clarissa ; Palucci, Marta ; D’Ambrosio, Pino ; Sonnini, Elena ; Loberti, Lorenzo ; Panfili, Arianna ; Lucci Cordisco, Emanuela ; Chiurazzi, Pietro ; Trevisan, Valentina ; Leoni, Chiara ; Zampino, Giuseppe ; Pomponi, Maria Grazia ; Orteschi, Daniela ; Zollino, Marcella ; Marangi, Giuseppe
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-04, Vol.16 (4), p.469
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Showing 1 to 20 of 89 results

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UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants

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Short- and mid-term multidisciplinary outcomes of newborns exposed to SARS-CoV-2 in utero or during the perinatal period: preliminary findings

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Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe?

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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

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Role of nutrient supplements in children with post-COVID condition: a retrospective preliminary observation and narrative review

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A restricted spectrum of NRAS mutations causes Noonan syndrome

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Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

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A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment

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Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

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Multidisciplinary Management of Costello Syndrome: Current Perspectives

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Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 It...

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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome

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Correction to: Short‑ and mid‑term multidisciplinary outcomes of newborns exposed to SARS‑CoV‑2 in utero or during the perinatal period: preliminary findings

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Assessing Metabolic Syndrome Risk in Children and Adolescents with Prader–Willi Syndrome: A Comparison of Index Performance

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Comparison between Short Therapy and Standard Therapy in Pediatric Patients Hospitalized with Urinary Tract Infection: A Single Center Retrospective Analysis

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Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics

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Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy

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