Kabuki syndrome: international consensus diagnostic criteria
Adam, Margaret P, Banka, Siddharth, Bjornsson, Hans T, Bodamer, Olaf, Chudley, Albert E, Harris, Jaqueline, Kawame, Hiroshi, Lanpher, Brendan C, Lindsley, Andrew W, Merla, Giuseppe, Miyake, Noriko, Okamoto, Nobuhiko, Stumpel, Constanze T, Niikawa, Norio
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
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AQP4 Aggregation State Is a Determinant for Glioma Cell Fate
Simone, Laura, Pisani, Francesco, Mola, Maria G, De Bellis, Manuela, Merla, Giuseppe, Micale, Lucia, Frigeri, Antonio, Vescovi, Angelo L, Svelto, Maria, Nicchia, Grazia P
Published in Cancer research (Chicago, Ill.) (01.05.2019)
Published in Cancer research (Chicago, Ill.) (01.05.2019)
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MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences
L′Abbate, Alberto, Tolomeo, Doron, Cifola, Ingrid, Severgnini, Marco, Turchiano, Antonella, Augello, Bartolomeo, Squeo, Gabriella, D′Addabbo, Pietro, Traversa, Debora, Daniele, Giulia, Lonoce, Angelo, Pafundi, Mariella, Carella, Massimo, Palumbo, Orazio, Dolnik, Anna, Muehlematter, Dominique, Schoumans, Jacqueline, Van Roy, Nadine, De Bellis, Gianluca, Martinelli, Giovanni, Merla, Giuseppe, Bullinger, Lars, Haferlach, Claudia, Storlazzi, Clelia Tiziana
Published in Leukemia (01.10.2018)
Published in Leukemia (01.10.2018)
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Copy number variants at Williams-Beuren syndrome 7q11.23 region
Merla, Giuseppe, Brunetti-Pierri, Nicola, Micale, Lucia, Fusco, Carmela
Published in Human genetics (01.07.2010)
Published in Human genetics (01.07.2010)
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The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages
Romagnoli, Alessandra, Di Rienzo, Martina, Petruccioli, Elisa, Fusco, Carmela, Palucci, Ivana, Micale, Lucia, Mazza, Tommaso, Delogu, Giovanni, Merla, Giuseppe, Goletti, Delia, Piacentini, Mauro, Fimia, Gian Maria
Published in Cell death & disease (05.08.2023)
Published in Cell death & disease (05.08.2023)
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
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
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways
Venuto, Santina, Castellana, Stefano, Monti, Maria, Appolloni, Irene, Fusilli, Caterina, Fusco, Carmela, Pucci, Piero, Malatesta, Paolo, Mazza, Tommaso, Merla, Giuseppe, Micale, Lucia
Published in Biochimica et biophysica acta. General subjects (01.02.2019)
Published in Biochimica et biophysica acta. General subjects (01.02.2019)
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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela
Published in European journal of pediatrics (01.01.2022)
Published in European journal of pediatrics (01.01.2022)
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Associations between genetic polymorphisms in IL-33, IL1R1 and risk for inflammatory bowel disease
Latiano, Anna, Palmieri, Orazio, Pastorelli, Luca, Vecchi, Maurizio, Pizarro, Theresa T, Bossa, Fabrizio, Merla, Giuseppe, Augello, Bartolomeo, Latiano, Tiziana, Corritore, Giuseppe, Settesoldi, Alessia, Valvano, Maria Rosa, D'Incà, Renata, Stronati, Laura, Annese, Vito, Andriulli, Angelo
Published in PloS one (25.04.2013)
Published in PloS one (25.04.2013)
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Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
Rooney, Kathleen, Levy, Michael A., Haghshenas, Sadegheh, Kerkhof, Jennifer, Rogaia, Daniela, Tedesco, Maria Giovanna, Imperatore, Valentina, Mencarelli, Amedea, Squeo, Gabriella Maria, Di Venere, Eleonora, Di Cara, Giuseppe, Verrotti, Alberto, Merla, Giuseppe, Tedder, Matthew L., DuPont, Barbara R., Sadikovic, Bekim, Prontera, Paolo
Published in International journal of molecular sciences (10.08.2021)
Published in International journal of molecular sciences (10.08.2021)
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Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case
Paparella, Annalisa, Squeo, Gabriella Maria, Di Venere, Eleonora, Cardea, Erica, Mazza, Tommaso, Castellana, Stefano, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Sinibaldi, Lorenzo, Digilio, Maria Cristina, Merla, Giuseppe
Published in Journal of human genetics (01.09.2022)
Published in Journal of human genetics (01.09.2022)
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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits
Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefano, Merla, Giuseppe
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome
Fusco, Carmela, Micale, Lucia, Egorov, Mikhail, Monti, Maria, D'Addetta, Ester Valentina, Augello, Bartolomeo, Cozzolino, Flora, Calcagnì, Alessia, Fontana, Andrea, Polishchuk, Roman S, Didelot, Gerard, Reymond, Alexandre, Pucci, Piero, Merla, Giuseppe
Published in PloS one (09.07.2012)
Published in PloS one (09.07.2012)
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MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis
Danza, Katia, De Summa, Simona, Pinto, Rosamaria, Pilato, Brunella, Palumbo, Orazio, Merla, Giuseppe, Simone, Gianni, Tommasi, Stefania
Published in Oncotarget (01.01.2015)
Published in Oncotarget (01.01.2015)
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome
Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A, Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie
Published in International journal of molecular sciences (05.02.2022)
Published in International journal of molecular sciences (05.02.2022)
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