Search Results - Faravelli, Francesca

Refine Results
  1. 1
    Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

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

    Published 2003
    Get full text Get full text
    Text
    Save to List
    Saved in:
  2. 2
    A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype

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

    Published 2008
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  3. 3
    Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

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

    Published 2009
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

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

    Published 2022
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  5. 5
    Craniofacial characteristics of fragile X syndrome in mouse and man

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

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  6. 6
    FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

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

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  7. 7
    Prevalence of maternal preconception risk factors: an Italian multicenter survey

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

    Published 2014
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  8. 8
    Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

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

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  9. 9
    P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

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

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  10. 10
    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome by 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

    Published 2012
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  11. 11
    BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

    BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus by 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

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  12. 12
    Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

    Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph... by 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

    Published 2012
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  13. 13
    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients by 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

    Published 2006
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  14. 14
    Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

    Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations by 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

    Published 2005
    Get full text Get full text
    Text
    Save to List
    Saved in:
  15. 15
    BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

    BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia by 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

    Published 2016
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  16. 16
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI by 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

    Published 2012
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  17. 17
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by 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.

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  18. 18
    Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

    Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum by 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

    Published 2009
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  19. 19
    SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

    SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations by 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

    Published 2011
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  20. 20
    Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

    Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome by 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

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: