Resultados da pesquisa - Digilio, M. Cristina

Genetic Dosage Compensation in a Family with Velo-cardio-facial/DiGeorge/22q11.2 Deletion Syndrome Por Alkalay, Avishai A., Guo, Tingwei, Montagna, Cristina, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Morrow, Bernice

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Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2 Por Digilio, M. Cristina, McDonald-McGinn, Donna M., Heike, Carrie, Catania, Charles, Dallapiccola, Bruno, Marino, Bruno, Zackai, Elaine H.

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome with Variable Cardiac Anomalies Por Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S.V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, M. Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D., Trembath, Richard C.

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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio- facial/DiGeorge/22q11.2 deletion syndrome patients Por Guo, Tingwei, McGinn, Donna McDonald, Blonska, Anna, Shanske, Alan, Bassett, Anne, Chow, Eva, Bowser, Mark, Sheridan, Molly, Beemer, Frits, Devriendt, Koen, Swillen, Ann, Breckpot, Jeroen, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Carpenter, Courtney, Zheng, Xin, Johnson, Jacob, Chung, Jonathan, Higgins, Anne Marie, Philip, Nicole, Simon, Tony J., Coleman, Karlene, Heine-Suner, Damian, Rosell, Jordi, Kates, Wendy, Devoto, Marcella, Goldmuntz, Elizabeth, Zackai, Elaine, Wang, Tao, Shprintzen, Robert, Emanuel, Beverly, Morrow, Bernice

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Overt Cleft Palate Phenotype and TBX1 Genotype Correlations in Velo-cardio-facial/DiGeorge/22q11.2 Deletion Syndrome Patients Por Herman, Sean B., Guo, Tingwei, McGinn, Donna M. McDonald, Blonska, Anna, Shanske, Alan L., Bassett, Anne S., Chow, Eva WC, Bowser, Mark, Sheridan, Molly, Beemer, Frits, Devriendt, Koen, Swillen, Ann, Breckpot, Jeroen, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Carpenter, Courtney, Zheng, Xin, Johnson, Jacob, Chung, Jonathan, Higgins, Anne Marie, Philip, Nicole, Simon, Tony, Coleman, Karlene, Heine-Suner, Damian, Rosell, Jordi, Kates, Wendy, Devoto, Marcella, Zackai, Elaine, Wang, Tao, Shprintzen, Robert, Emanuel, Beverly S., Morrow, Bernice E.

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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 Por Guo, Tingwei, Repetto, Gabriela M., McDonald McGinn, Donna M., Chung, Jonathan H., Nomaru, Hiroko, Campbell, Christopher L., Blonska, Anna, Bassett, Anne S., Chow, Eva W.C., 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 D.A., van Amelsvoort, Thérèse A., Kates, Wendy R., Zackai, Elaine, Johnston, H. Richard, Cutler, David J., Agopian, A.J., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Emanuel, Beverly S., Morrow, Bernice E.

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects Por Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A.S., Gothelf, Doron, Zackai, Elaine, Agopian, A.J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.

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