Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide
Castellana, Giuseppe, Castellana, Giorgio, Gentile, Mattia, Castellana, Roberto, Resta, Onofrio
Published in European respiratory review (01.12.2015)
Published in European respiratory review (01.12.2015)
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Combining Point-of-Care Diagnostics and Internet of Medical Things (IoMT) to Combat the COVID-19 Pandemic
Yang, Ting, Gentile, Mattia, Shen, Ching-Fen, Cheng, Chao-Min
Published in Diagnostics (Basel) (16.04.2020)
Published in Diagnostics (Basel) (16.04.2020)
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Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
Cova, Giulia, Glaser, Juliane, Schöpflin, Robert, Prada-Medina, Cesar Augusto, Ali, Salaheddine, Franke, Martin, Falcone, Rita, Federer, Miriam, Ponzi, Emanuela, Ficarella, Romina, Novara, Francesca, Wittler, Lars, Timmermann, Bernd, Gentile, Mattia, Zuffardi, Orsetta, Spielmann, Malte, Mundlos, Stefan
Published in Nature communications (17.03.2023)
Published in Nature communications (17.03.2023)
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Journal Article
Rfx6 directs islet formation and insulin production in mice and humans
Polychronakos, Constantin, German, Michael S, Smith, Stuart B, Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina Y, Scheel, David W, Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C, Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Eijnden, Serge Vanden, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Ève, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersley, Andrew T, Wang, Rennian, Wilson, Maria E, Johnson, Jeffrey D
Published in Nature (London) (11.02.2010)
Published in Nature (London) (11.02.2010)
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Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3
Cova, Giulia, Glaser, Juliane, Schöpflin, Robert, Prada-Medina, Cesar Augusto, Ali, Salaheddine, Franke, Martin, Falcone, Rita, Federer, Miriam, Ponzi, Emanuela, Ficarella, Romina, Novara, Francesca, Wittler, Lars, Timmermann, Bernd, Gentile, Mattia, Zuffardi, Orsetta, Spielmann, Malte, Mundlos, Stefan
Published in Nature communications (18.05.2023)
Published in Nature communications (18.05.2023)
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Journal Article
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature
Palumbi, Roberto, Ponzi, Emanuela, Micella, Stefania, Pascali, Mara, Bucci, Roberta, Gentile, Mattia, Margari, Lucia, Simone, Marta
Published in Frontiers in genetics (2024)
Published in Frontiers in genetics (2024)
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Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II
Marzano, Flaviana, Chiara, Matteo, Consiglio, Arianna, D'Amato, Gabriele, Gentile, Mattia, Mirabelli, Valentina, Piane, Maria, Savio, Camilla, Fabiani, Marco, D'Elia, Domenica, Sbisà, Elisabetta, Scarano, Gioacchino, Lonardo, Fortunato, Tullo, Apollonia, Pesole, Graziano, Faienza, Maria Felicia
Published in International journal of molecular sciences (31.07.2023)
Published in International journal of molecular sciences (31.07.2023)
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Journal Article
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report
Inchingolo, Alessio Danilo, Patano, Assunta, Coloccia, Giovanni, Ceci, Sabino, Inchingolo, Angelo Michele, Marinelli, Grazia, Malcangi, Giuseppina, Montenegro, Valentina, Laudadio, Claudia, Palmieri, Giulia, Bordea, Ioana Roxana, Ponzi, Emanuela, Orsini, Paola, Ficarella, Romina, Scarano, Antonio, Lorusso, Felice, Dipalma, Gianna, Corsalini, Massimo, Gentile, Mattia, Venere, Daniela Di, Inchingolo, Francesco
Published in Medicina (Kaunas, Lithuania) (10.12.2021)
Published in Medicina (Kaunas, Lithuania) (10.12.2021)
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Peritoneal Mesothelioma with Residential Asbestos Exposure. Report of a Case with Long Survival (Seventeen Years) Analyzed by Cgh-Array
Serio, Gabriella, Pezzuto, Federica, Marzullo, Andrea, Scattone, Anna, Cavone, Domenica, Punzi, Alessandra, Fortarezza, Francesco, Gentile, Mattia, Buonadonna, Antonia Lucia, Barbareschi, Mattia, Vimercati, Luigi
Published in International journal of molecular sciences (22.08.2017)
Published in International journal of molecular sciences (22.08.2017)
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Journal Article
Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience
Gagliardi, Delia, Canzio, Eleonora, Orsini, Paola, Conti, Pasquale, Sinisi, Vita, Maggiore, Cosimo, Santarsia, Maria Carla, Lagioia, Giuseppina, Lupis, Giovanna, Roppa, Isabella, Scianatico, Gaetano, Mancini, Daniela, Corti, Stefania, Comi, Giacomo Pietro, Gentile, Mattia, Gagliardi, Delio
Published in Annals of clinical and translational neurology (01.05.2024)
Published in Annals of clinical and translational neurology (01.05.2024)
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Journal Article
'Compressed Baby Head': A New 'Abusive Head Trauma' Entity?
Macorano, Enrica, Gentile, Mattia, Stellacci, Giandomenico, Manzionna, Mariano, Mele, Federica, Calvano, Mariagrazia, Leonardelli, Mirko, Duma, Stefano, De Gabriele, Giovanni, Cristalli, Alessandro, Minella, Raffaella, Di Fazio, Aldo, Introna, Francesco
Published in Children (Basel) (01.06.2023)
Published in Children (Basel) (01.06.2023)
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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
PACIORKOWSKI, Alex R, LIN THIO, Liu, WHELESS, James W, BALASUBRAMANIAN, Sandhya, KUMAR, Ravinesh, CHRISTIAN, Susan L, MARINI, Carla, GUERRINI, Renzo, MALTSEV, Natalia, SHAFFER, Lisa G, DOBYNS, William B, ROSENFELD, Jill A, GAJECKA, Marzena, GURNETT, Christina A, KULKARNI, Shashikant, CHUNG, Wendy K, MARSH, Eric D, GENTILE, Mattia, REGGIN, James D
Published in European journal of human genetics : EJHG (01.12.2011)
Published in European journal of human genetics : EJHG (01.12.2011)
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Journal Article
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype
Gentile, Mattia, De Mattia, Delia, Pansini, Angela, Schettini, Federico, Buonadonna, Antonia Lucia, Capozza, Manuela, Ficarella, Romina, Laforgia, Nicola
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Journal Article
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature
Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Goegan, Mara, Gentile, Mattia, Gregato, Giuliana, Rossi, Elena, Pramparo, Tiziano, Zuffardi, Orsetta, Toniolo, Daniela
Published in Human reproduction (Oxford) (01.06.2006)
Published in Human reproduction (Oxford) (01.06.2006)
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Journal Article
Bilateral Phyllodes Giant Tumor. A Case Report Analyzed by Array-CGH
Fortarezza, Francesco, Pezzuto, Federica, Cazzato, Gerardo, Punzo, Clelia, d’Amati, Antonio, Lettini, Teresa, Gentile, Mattia, Buonadonna, Antonia Lucia, Mariano, Marta, Pezzolla, Angela, Serio, Gabriella
Published in Diagnostics (Basel) (15.10.2020)
Published in Diagnostics (Basel) (15.10.2020)
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Journal Article
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K, Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F
Published in Orphanet journal of rare diseases (05.11.2016)
Published in Orphanet journal of rare diseases (05.11.2016)
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Journal Article
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
Ponzi, Emanuela, Gentile, Mattia, Agolini, Emanuele, Matera, Emilia, Palumbi, Roberto, Buonadonna, Antonia Lucia, Peschechera, Antonia, Gabellone, Alessandra, Antonucci, Maria Fatima, Margari, Lucia
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Journal Article
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti
Francesca, Fusco, Mariateresa, Paciolla, Alessandra, Pescatore, Brigida, Lioi Maria, Carmen, Ayuso, Francesca, Faravelli, Mattia, Gentile, Marcella, Zollino, Michele, D'Urso, Giuseppina, Miano Maria, Valeria, Ursini Matilde
Published in Human mutation (01.09.2009)
Published in Human mutation (01.09.2009)
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Journal Article
Characterization of a complex chromosome aberration in two cases of peritoneal mesothelioma arising primarily in the hernial sac
Serio, Gabriella, Gentile, Mattia, Pennella, Antonio, Marzullo, Andrea, Buonadonna, Antonia Lucia, Nazzaro, Pietro, Testini, Mario, Musti, Marina, Scattone, Anna
Published in Pathology international (01.06.2009)
Published in Pathology international (01.06.2009)
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