檢索結果 - Faravelli, Francesca

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 由 Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni

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A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype 由 Cecconi, Massimiliano, Forzano, Francesca, Rinaldi, Rosanna, Cappellacci, Sandra, Grammatico, Paola, Faravelli, Francesca, Dagna Bricarelli, Franca, Di Maria, Emilio, Grasso, Marina

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Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability 由 Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo

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SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome 由 Migliore, Chiara, Vendramin, Anna, McKee, Shane, Prontera, Paolo, Faravelli, Francesca, Sachdev, Rani, Dias, Patricia, Mascaro, Martina, Licastro, Danilo, Meroni, Germana

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Craniofacial characteristics of fragile X syndrome in mouse and man 由 Heulens, Inge, Suttie, Michael, Postnov, Andrei, De Clerck, Nora, Perrotta, Concetta S, Mattina, Teresa, Faravelli, Francesca, Forzano, Francesca, Frank Kooy, R, Hammond, Peter

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FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene 由 Fernández, Esperanza, Gennaro, Elena, Pirozzi, Filomena, Baldo, Chiara, Forzano, Francesca, Turolla, Licia, Faravelli, Francesca, Gastaldo, Denise, Coviello, Domenico, Grasso, Marina, Bagni, Claudia

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Prevalence of maternal preconception risk factors: an Italian multicenter survey 由 Mastroiacovo, Pierpaolo, Nilsen, Roy Miodini, Leoncini, Emanuele, Gastaldi, Paolo, Allegri, Valentina, Boiani, Arianna, Faravelli, Francesca, Ferrazzoli, Federica, Guala, Andrea, Madrigali, Valeria, Scarano, Gioacchino

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Prevalence and determinants of preconception folic acid use: an Italian multicenter survey 由 Nilsen, Roy M., Leoncini, Emanuele, Gastaldi, Paolo, Allegri, Valentina, Agostino, Rocco, Faravelli, Francesca, Ferrazzoli, Federica, Finale, Enrico, Ghirri, Paolo, Scarano, Gioacchino, Mastroiacovo, Pierpaolo

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P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9 由 Magini, Pamela, Marco‐Marin, Clara, Escamilla‐Honrubia, Juan M., Martinelli, Diego, Dionisi-Vici, Carlo, Faravelli, Francesca, Forzano, Francesca, Seri, Marco, Rubio, Vicente, Panza, Emanuele

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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome 由 Hammond, Peter, Hannes, Femke, Suttie, Michael, Devriendt, Koen, Vermeesch, Joris Robert, Faravelli, Francesca, Forzano, Francesca, Parekh, Susan, Williams, Steve, McMullan, Dominic, South, Sarah T, Carey, John C, Quarrell, Oliver

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BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus 由 Levet, Sandrine, Ouarné, Marie, Ciais, Delphine, Coutton, Charles, Subileau, Mariela, Mallet, Christine, Ricard, Nicolas, Bidart, Marie, Debillon, Thierry, Faravelli, Francesca, Rooryck, Caroline, Feige, Jean-Jacques, Tillet, Emmanuelle, Bailly, Sabine

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Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph... 由 Finelli, Palma, Sirchia, Silvia Maria, Masciadri, Maura, Crippa, Milena, Recalcati, Maria Paola, Rusconi, Daniela, Giardino, Daniela, Monti, Laura, Cogliati, Francesca, Faravelli, Francesca, Natacci, Federica, Zoccante, Leonardo, Bernardina, Bernardo Dalla, Russo, Silvia, Larizza, Lidia

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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients 由 Bentivegna, Angela, Milani, Donatella, Gervasini, Cristina, Castronovo, Paola, Mottadelli, Federica, Manzini, Stefano, Colapietro, Patrizia, Giordano, Lucio, Atzeri, Francesca, Divizia, Maria T, Uzielli, Maria L Giovannucci, Neri, Giovanni, Bedeschi, Maria F, Faravelli, Francesca, Selicorni, Angelo, Larizza, Lidia

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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations 由 Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R. P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen

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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia 由 Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu

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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI 由 Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul CM, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry AGM, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen

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Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans 由 Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.

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Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum 由 Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C., Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L., Mancini, Grazia M.S., Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B., Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D., Dallapiccola, Bruno, Tartaglia, Marco

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SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations 由 Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B, Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D, Tartaglia, Marco

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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome 由 Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste

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