Acro-cardio-facial syndrome

by Dallapiccola Bruno, Digilio Maria
Published 2010-09-01

Orphanet Journal of Rare Diseases: Launch Editorial

by Aymé Ségolène, Dallapiccola Bruno, Donnai Dian
Published 2006-03-01

KBG syndrome

by Brancati Francesco, Sarkozy Anna, Dallapiccola Bruno
Published 2006-12-01

Leopard syndrome

by Dallapiccola Bruno, Digilio Maria, Sarkozy Anna
Published 2008-05-01

Joubert Syndrome and related disorders

by Brancati Francesco, Dallapiccola Bruno, Valente Enza
Published 2010-07-01

Obituary of Dr. Angelo Di George

by Mc Donald-McGinn Donna M, Dallapiccola Bruno, Digilio Maria C, Tarani Luigi, Marino Bruno
Published 2010-03-01

Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones

by Gerosolimo Germano, Dallapiccola Bruno, Bruni Roberto, Ferraris Alessandro, Tataseo Paola, Tritarelli Elena, Marcantonio Cinzia, Ciccaglione Anna, Costantino Angela, Rapicetta Maria
Published 2008-06-01

Functional analysis of splicing mutations in exon 7 of <it>NF1 </it>gene

by Calvieri Stefano, Torrente Isabella, Guida Valentina, Schirinzi Annalisa, De Luca Alessandro, Bottillo Irene, Gervasini Cristina, Larizza Lidia, Pizzuti Antonio, Dallapiccola Bruno
Published 2007-02-01

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

by Novelli Antonio, Fedele Luigi, Divizia Maria, Barbano Giancarlo, Frontino Giada, Baban Anwar, Carella Massimo, Gervasini Cristina, Gimelli Stefania, Bernardini Laura, Béna Frédérique, Lalatta Faustina, Miozzo Monica, Dallapiccola Bruno
Published 2009-11-01

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

by Krajewska-Walasek Malgorzata, Devriendt Koenraad, Donnai Dian, Dallapiccola Bruno, Brunner Han, Metcalfe Kay, Bronwyn Kerr, Harrison Caroline, Day Ruth, Gardner Sara, Strong Kate, Griffiths Pam, Philip Nicole, Clayton-Smith Jill
Published 2010-10-01

Mutation spectrum of <it>MLL2 </it>in a cohort of kabuki syndrome patients

by Renieri Alessandra, Prontera Paolo, Priolo Manuela, Patricelli Maria G, Melis Daniela, Mattina Teresa, Lapi Elisabetta, Garavelli Livia, Fischetto Rita, Ferrari Paola, Daolio Cecilia, Douzgou Sofia, Clementi Maurizio, Bonfante Aldo, Accadia Maria, Forzano Francesca, Faravelli Francesca, Dallapiccola Bruno, Digilio Maria C, Calcagnì Alessia, Belligni Elga, D'Addetta Ester V, Zucchetti Federica, Gumiero Barbara, Reymond Alexandre, Silengo Margherita, Loviglio Maria N, Selicorni Angelo, Fusco Carmela, Augello Bartolomeo, Micale Lucia, Mencarelli Maria A, Scarano Gioacchino, Monica Matteo, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, Merla Giuseppe
Published 2011-06-01

Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome

by Tartaglia, Marco, Pennacchio, Len A., Zhao, Chen, Yadav, Kamlesh K., Fodale, Valentina, Sarkozy, Anna, Pandit, Bhaswati, Oishi, Kimihiko, Martinelli, Simone, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joes, Bristow, James, Carta, Claudio, Lepri, Francesca, Neri, Cinzia, Vasta, Isabella, Gibson, Kate, Curry, Cynthia J., Lopez Siguero, Juan Pedro, Digilio, Maria Cristina, Zampino, Giuseppe, Dallapiccola, Bruno, Bar-Sagi, Dafna, Gelb, Brude D.
Published 2006

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

by Bielas, Stephanie L, Silhavy, Jennifer L, Brancati, Francesco, Kisseleva, Marina V, Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A, Zaki, Maha S, Abdel-Aleem, Alice, Rosti, Rasim Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C, Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J, Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W, Valente, Enza Maria, Gleeson, Joseph G
Published 2009

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

by Mlynarski, Elisabeth E, Xie, Michael, Taylor, Deanne, Sheridan, Molly B, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Chow, Eva WC, Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S, Morrow, Bernice E, Emanuel, Beverly S, International Chromosome 22q11.2 Consortium
Published 2016

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

by Mlynarski, Elisabeth E, Sheridan, Molly B, Xie, Michael, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Gai, Xiaowu, Chow, Eva WC, Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H, Bassett, Anne S, Goldmuntz, Elizabeth, Morrow, Bernice E, Emanuel, Beverly S, International Chromosome 22q11.2 Consortium
Published 2015

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

by de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Vissers, Lisenka E. L. M., Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vitobello, Antonio, Banka, Siddharth, Benetti, Elisa, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Faivre, Laurence, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Lindstrand, Anna, López-Martín, Estrella, Macek, Milan, Jr., Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Vyshka, Klea, Zurek, Birte
Published 2021

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

by Guo, Tingwei, Repetto, Gabriela M, McDonald McGinn, Donna M, Chung, Jonathan H, Nomaru, Hiroko, Campbell, Christopher L, Blonska, Anna, Bassett, Anne S, Chow, Eva WC, Mlynarski, Elisabeth E, Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E, Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E, Digilio, M Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E, Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E, Tassone, Flora, Simon, Tony J, van Duin, Esther DA, van Amelsvoort, Thérèse A, Kates, Wendy R, Zackai, Elaine, Johnston, H Richard, Cutler, David J, Agopian, AJ, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Emanuel, Beverly S, Morrow, Bernice E, International 22q11.2 Consortium/Brain and Behavior Consortium*
Published 2017