A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
Palumbo, Pietro, Petracca, Antonio, Maggi, Roberto, Biagini, Tommaso, Nardella, Grazia, Sacco, Michele Carmine, Di Schiavi, Elia, Carella, Massimo, Micale, Lucia, Castori, Marco
Published in European journal of human genetics : EJHG (01.07.2019)
Published in European journal of human genetics : EJHG (01.07.2019)
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Journal Article
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
Fusco, Carmela, Nardella, Grazia, Morlino, Silvia, Micale, Lucia, Tragni, Vincenzo, Agolini, Emanuele, Novelli, Antonio, Massuras, Stefania, Giambra, Vincenzo, Pierri, Ciro Leonardo, Castori, Marco
Published in Journal of human genetics (01.01.2024)
Published in Journal of human genetics (01.01.2024)
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Journal Article
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene
Micale, Lucia, Fusco, Carmela, Nardella, Grazia, Palmieri, Orazio, Latiano, Tiziana, Gioffreda, Domenica, Tavano, Francesca, Panza, Anna, Merla, Antonio, Biscaglia, Giuseppe, Gentile, Marco, Cuttitta, Antonello, Castori, Marco, Perri, Francesco, Latiano, Anna
Published in International journal of molecular sciences (30.12.2022)
Published in International journal of molecular sciences (30.12.2022)
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Journal Article
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation
Fusco, Carmela, Nardella, Grazia, Augello, Bartolomeo, Boccafoschi, Francesca, Palumbo, Orazio, Fusaro, Luca, Notarangelo, Angelantonio, Barbano, Raffaela, Parrella, Paola, Annicchiarico, Giuseppina, De Meco, Carmela, Micale, Lucia, Graziano, Paolo, Castori, Marco
Published in International journal of molecular sciences (20.07.2020)
Published in International journal of molecular sciences (20.07.2020)
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Journal Article
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10 -Depleted Mouse Endothelial Cells
Fusco, Carmela, Nardella, Grazia, Di Filippo, Lucio, Dejana, Elisabetta, Cacchiarelli, Davide, Petracca, Antonio, Micale, Lucia, Malinverno, Matteo, Castori, Marco
Published in Genes (27.05.2022)
Published in Genes (27.05.2022)
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Journal Article
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
Micale, Lucia, Morlino, Silvia, Schirizzi, Annalisa, Agolini, Emanuele, Nardella, Grazia, Fusco, Carmela, Castellana, Stefano, Guarnieri, Vito, Villa, Roberta, Bedeschi, Maria Francesca, Grammatico, Paola, Novelli, Antonio, Castori, Marco
Published in Genes (17.12.2020)
Published in Genes (17.12.2020)
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Journal Article
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Cinque, Luigia, Pugliese, Flavia, Salcuni, Antonio Stefano, Trombetta, Domenico, Battista, Claudia, Biagini, Tommaso, Augello, Bartolomeo, Nardella, Grazia, Conti, Francesco, Corbetta, Sabrina, Fischetto, Rita, Foiadelli, Thomas, Gaudio, Agostino, Giannini, Cosimo, Grosso, Enrico, Guabello, Gregorio, Massuras, Stefania, Palermo, Andrea, Politano, Luisa, Pigliaru, Francesca, Ruggeri, Rosaria Maddalena, Scarano, Emanuela, Vicchio, Piera, Cannavò, Salvatore, Celli, Mauro, Petrizzelli, Francesco, Mastroianno, Mario, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
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Journal Article
Inter-observer variability in the delineation of pharyngo-laryngeal tumor, parotid glands and cervical spinal cord: Comparison between CT-scan and MRI
Geets, Xavier, Daisne, Jean-François, Arcangeli, Stephano, Coche, Emmanuel, Poel, Marian De, Duprez, Thierry, Nardella, Grazia, Grégoire, Vincent
Published in Radiotherapy and oncology (01.10.2005)
Published in Radiotherapy and oncology (01.10.2005)
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Journal Article
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
Micale, Lucia, Russo, Federica, Mascaro, Martina, Morlino, Silvia, Nardella, Grazia, Fusco, Carmela, Bisceglia, Luigi, Meroni, Germana, Castori, Marco
Published in Pediatric research (01.04.2023)
Published in Pediatric research (01.04.2023)
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Journal Article
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells
Scimone, Concetta, Alibrandi, Simona, Donato, Luigi, De Gaetano, Giuseppe Valerio, Fusco, Carmela, Nardella, Grazia, Castori, Marco, Rinaldi, Carmela, Alafaci, Concetta, Germanò, Antonino, D'Angelo, Rosalia, Sidoti, Antonina
Published in Biochimica et biophysica acta. Molecular cell research (01.06.2023)
Published in Biochimica et biophysica acta. Molecular cell research (01.06.2023)
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Journal Article
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Morlino, Silvia, Vaccaro, Lorenzo, Leone, Maria Pia, Nardella, Grazia, Bisceglia, Luigi, Ortore, Rocco Pio, Verzicco, Giannandrea, Cassano, Lazzaro, Castori, Marco, Cacchiarelli, Davide, Micale, Lucia
Published in Journal of human genetics (01.06.2024)
Published in Journal of human genetics (01.06.2024)
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Journal Article
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A
Morlino, Silvia, Nardella, Grazia, Castellana, Stefano, Micale, Lucia, Copetti, Massimiliano, Fusco, Carmela, Castori, Marco
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants
Fusco, Carmela, Nardella, Grazia, Petracca, Antonio, Ronchi, Dario, Paciello, Nicola, Di Giacomo, Marilena, Gambardella, Stefano, Lanfranconi, Silvia, Zampatti, Stefania, D'Agruma, Leonardo, Micale, Lucia, Castori, Marco
Published in Clinical genetics (01.06.2021)
Published in Clinical genetics (01.06.2021)
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Journal Article
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
Fusco, Carmela, Copetti, Massimiliano, Mazza, Tommaso, Amoruso, Luigi, Mastoianno, Sandra, Nardella, Grazia, Guarnieri, Vito, Micale, Lucia, D'Agruma, Leonardo, Castori, Marco
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Journal Article
A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion
Nardella, Grazia, Visci, Grazia, Guarnieri, Vito, Castellana, Stefano, Biagini, Tommaso, Bisceglia, Luigi, Palumbo, Orazio, Trivisano, Marina, Vaira, Carmela, Scerrati, Massimo, Debrasi, Davide, D'Angelo, Vincenzo, Carella, Massimo, Merla, Giuseppe, Mazza, Tommaso, Castori, Marco, D'Agruma, Leonardo, Fusco, Carmela
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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Journal Article
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
Micale, Lucia, Morlino, Silvia, Biagini, Tommaso, Carbone, Annalucia, Fusco, Carmela, Ritelli, Marco, Giambra, Vincenzo, Zoppi, Nicoletta, Nardella, Grazia, Notarangelo, Angelantonio, Schirizzi, Annalisa, Mazzoccoli, Gianluigi, Grammatico, Paola, Wade, Emma M., Mazza, Tommaso, Colombi, Marina, Castori, Marco
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2020)
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Journal Article
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Leone, Maria Pia, Morlino, Silvia, Nardella, Grazia, Pracella, Riccardo, Giachino, Daniela, Celli, Luca, Baldo, Demetrio, Turolla, Licia, Piccione, Maria, Salzano, Emanuela, Busè, Martina, Lastella, Patrizia, Zollino, Marcella, Cantone, Rachele, Grosso, Enrico, Zonta, Andrea, Pasini, Barbara, Piscopo, Carmelo, De Maggio, Ilaria, Priolo, Manuela, Mammi, Corrado, Foiadelli, Thomas, Trabatti, Chiara, Savasta, Salvatore, Iolascon, Achille, Ferraris, Alessandro, Lodato, Valentina, Di Giosaffatte, Niccolò, Majore, Silvia, Selicorni, Angelo, Petracca, Antonio, Fusco, Carmela, Celli, Mauro, Guarnieri, Vito, Micale, Lucia, Castori, Marco
Published in Human genetics (01.06.2023)
Published in Human genetics (01.06.2023)
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Journal Article
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in IPdcd10/I-Depleted Mouse Endothelial Cells
Fusco, Carmela, Nardella, Grazia, Di Filippo, Lucio, Dejana, Elisabetta, Cacchiarelli, Davide, Petracca, Antonio, Micale, Lucia, Malinverno, Matteo, Castori, Marco
Published in Genes (01.05.2022)
Published in Genes (01.05.2022)
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Journal Article
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis
Morlino, Silvia, Carbone, Annalucia, Ritelli, Marco, Fusco, Carmela, Giambra, Vincenzo, Nardella, Grazia, Notarangelo, Angelantonio, Panelli, Patrizio, Mazzoccoli, Gianluigi, Zoppi, Nicoletta, Grammatico, Paola, Wade, Emma M, Colombi, Marina, Castori, Marco, Micale, Lucia
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Journal Article
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants
Fusco, Carmela, Nardella, Grazia, Fischetto, Rita, Copetti, Massimiliano, Petracca, Antonio, Annunziata, Francesca, Augello, Bartolomeo, D’Asdia, Maria Cecilia, Petrucci, Simona, Mattina, Teresa, Rella, Annalisa, Cassina, Matteo, Bengala, Mario, Biagini, Tommaso, Causio, Francesco Andrea, Caldarini, Camilla, Brancati, Francesco, De Luca, Alessandro, Guarnieri, Vito, Micale, Lucia, D’Agruma, Leonardo, Castori, Marco
Published in Human molecular genetics (01.07.2019)
Published in Human molecular genetics (01.07.2019)
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