Joubert Syndrome and related disorders
Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria
Published in Orphanet journal of rare diseases (08.07.2010)
Published in Orphanet journal of rare diseases (08.07.2010)
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Gut microbiota profiling of pediatric nonalcoholic fatty liver disease and obese patients unveiled by an integrated meta‐omics‐based approach
Del Chierico, Federica, Nobili, Valerio, Vernocchi, Pamela, Russo, Alessandra, Stefanis, Cristiano De, Gnani, Daniela, Furlanello, Cesare, Zandonà, Alessandro, Paci, Paola, Capuani, Giorgio, Dallapiccola, Bruno, Miccheli, Alfredo, Alisi, Anna, Putignani, Lorenza
Published in Hepatology (Baltimore, Md.) (01.02.2017)
Published in Hepatology (Baltimore, Md.) (01.02.2017)
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Gut Microbiota Dysbiosis as Risk and Premorbid Factors of IBD and IBS Along the Childhood-Adulthood Transition
Putignani, Lorenza, Del Chierico, Federica, Vernocchi, Pamela, Cicala, Michele, Cucchiara, Salvatore, Dallapiccola, Bruno
Published in Inflammatory bowel diseases (01.02.2016)
Published in Inflammatory bowel diseases (01.02.2016)
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Gut Microbiota Markers in Obese Adolescent and Adult Patients: Age-Dependent Differential Patterns
Del Chierico, Federica, Abbatini, Francesca, Russo, Alessandra, Quagliariello, Andrea, Reddel, Sofia, Capoccia, Danila, Caccamo, Romina, Ginanni Corradini, Stefano, Nobili, Valerio, De Peppo, Francesco, Dallapiccola, Bruno, Leonetti, Frida, Silecchia, Gianfranco, Putignani, Lorenza
Published in Frontiers in microbiology (05.06.2018)
Published in Frontiers in microbiology (05.06.2018)
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Leopard syndrome
Sarkozy, Anna, Digilio, Maria Cristina, Dallapiccola, Bruno
Published in Orphanet journal of rare diseases (27.05.2008)
Published in Orphanet journal of rare diseases (27.05.2008)
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Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype
Vernocchi, Pamela, Del Chierico, Federica, Russo, Alessandra, Majo, Fabio, Rossitto, Martina, Valerio, Mariacristina, Casadei, Luca, La Storia, Antonietta, De Filippis, Francesca, Rizzo, Cristiano, Manetti, Cesare, Paci, Paola, Ercolini, Danilo, Marini, Federico, Fiscarelli, Ersilia Vita, Dallapiccola, Bruno, Lucidi, Vincenzina, Miccheli, Alfredo, Putignani, Lorenza
Published in PloS one (06.12.2018)
Published in PloS one (06.12.2018)
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Reference ranges of HOMA-IR in normal-weight and obese young Caucasians
Shashaj, Blegina, Luciano, Rosa, Contoli, Benedetta, Morino, Giuseppe Stefano, Spreghini, Maria Rita, Rustico, Carmela, Sforza, Rita Wietrzycowska, Dallapiccola, Bruno, Manco, Melania
Published in Acta diabetologica (01.04.2016)
Published in Acta diabetologica (01.04.2016)
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Gut Microbiota Profiling and Gut-Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections
Quagliariello, Andrea, Del Chierico, Federica, Russo, Alessandra, Reddel, Sofia, Conte, Giulia, Lopetuso, Loris R, Ianiro, Gianluca, Dallapiccola, Bruno, Cardona, Francesco, Gasbarrini, Antonio, Putignani, Lorenza
Published in Frontiers in microbiology (06.04.2018)
Published in Frontiers in microbiology (06.04.2018)
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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Kortüm, Fanny, Caputo, Viviana, Bauer, Christiane K, Stella, Lorenzo, Ciolfi, Andrea, Alawi, Malik, Bocchinfuso, Gianfranco, Flex, Elisabetta, Paolacci, Stefano, Dentici, Maria Lisa, Grammatico, Paola, Korenke, Georg Christoph, Leuzzi, Vincenzo, Mowat, David, Nair, Lal D V, Nguyen, Thi Tuyet Mai, Thierry, Patrick, White, Susan M, Dallapiccola, Bruno, Pizzuti, Antonio, Campeau, Philippe M, Tartaglia, Marco, Kutsche, Kerstin
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Congenital heart defects in molecularly proven Kabuki syndrome patients
Digilio, Maria Cristina, Gnazzo, Maria, Lepri, Francesca, Dentici, Maria Lisa, Pisaneschi, Elisa, Baban, Anwar, Passarelli, Chiara, Capolino, Rossella, Angioni, Adriano, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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FOXI3 pathogenic variants cause one form of craniofacial microsomia
Mao, Ke, Borel, Christelle, Ansar, Muhammad, Jolly, Angad, Makrythanasis, Periklis, Froehlich, Christine, Iwaszkiewicz, Justyna, Wang, Bingqing, Xu, Xiaopeng, Li, Qiang, Blanc, Xavier, Zhu, Hao, Chen, Qi, Jin, Fujun, Ankamreddy, Harinarayana, Singh, Sunita, Zhang, Hongyuan, Wang, Xiaogang, Chen, Peiwei, Ranza, Emmanuelle, Paracha, Sohail Aziz, Shah, Syed Fahim, Guida, Valentina, Piceci-Sparascio, Francesca, Melis, Daniela, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio, Magliozzi, Monia, Fadda, Maria Teresa, Streff, Haley, Machol, Keren, Lewis, Richard A., Zoete, Vincent, Squeo, Gabriella Maria, Prontera, Paolo, Mancano, Giorgia, Gori, Giulia, Mariani, Milena, Selicorni, Angelo, Psoni, Stavroula, Fryssira, Helen, Douzgou, Sofia, Marlin, Sandrine, Biskup, Saskia, De Luca, Alessandro, Merla, Giuseppe, Zhao, Shouqin, Cox, Timothy C., Groves, Andrew K., Lupski, James R., Zhang, Qingguo, Zhang, Yong-Biao, Antonarakis, Stylianos E.
Published in Nature communications (11.04.2023)
Published in Nature communications (11.04.2023)
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Gelb, Bruce D, Tartaglia, Marco, 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
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Al-Gazali, Lihadh, Silhavy, Jennifer L, Kayserili, Hulya, Fazzi, Elisa, Bertini, Enrico, Bayoumi, Riad A, Abdel-Aleem, Alice, Travaglini, Lorena, Valente, Enza Maria, Gleeson, Joseph G, Field, Seth J, Sztriha, Laszlo, Boltshauser, Eugen, Majerus, Philip W, Brancati, Francesco, Schurmans, Stephane, Scott, Lesley C, Gayral, Stephanie, Jacoby, Monique, Dallapiccola, Bruno, Bielas, Stephanie L, Kisseleva, Marina V, Rosti, Rasim Ozgur, Swistun, Dominika, Zaki, Maha S
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Phylogenetic and Metabolic Tracking of Gut Microbiota during Perinatal Development
Del Chierico, Federica, Vernocchi, Pamela, Petrucca, Andrea, Paci, Paola, Fuentes, Susana, Praticò, Giulia, Capuani, Giorgio, Masotti, Andrea, Reddel, Sofia, Russo, Alessandra, Vallone, Cristina, Salvatori, Guglielmo, Buffone, Elsa, Signore, Fabrizio, Rigon, Giuliano, Dotta, Andrea, Miccheli, Alfredo, de Vos, Willem M, Dallapiccola, Bruno, Putignani, Lorenza
Published in PloS one (02.09.2015)
Published in PloS one (02.09.2015)
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Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations
Del Chierico, Federica, Marzano, Valeria, Scanu, Matteo, Reddel, Sofia, Dentici, Maria Lisa, Capolino, Rossella, Di Donato, Maddalena, Spasari, Iolanda, Fiscarelli, Ersilia Vita, Digilio, Maria Cristina, Abreu, Maria Teresa, Dallapiccola, Bruno, Putignani, Lorenza
Published in Scientific reports (16.06.2023)
Published in Scientific reports (16.06.2023)
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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Beales, Philip L, Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P S, Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F, Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J, Peeters, Hilde, Alkuraya, Fowzan S
Published in Nature genetics (01.03.2011)
Published in Nature genetics (01.03.2011)
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