Výsledky vyhledávání - Maria Cristina Digilio

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  1. 1
    Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

    Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome Autor Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Sólveig Óskarsdóttir, Nicole Philip, Kathleen E. Sullivan, Ann Swillen, Jacob Vorstman

    Vydáno 2011
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  2. 2
    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome Autor Elisabeth E. Mlynarski, Michael Xie, Deanne Taylor, Molly B. Sheridan, Tingwei Guo, Silvia E. Racedo, Donna M. McDonald‐McGinn, Eva W.C. Chow, Jacob Vorstman, Ann Swillen, Koenraad Devriendt, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Nicole Philip, Tony J. Simon, Amy E. Roberts, Małgorzata Piotrowicz, Carrie E. Bearden, Stéphan Eliez, Doron Gothelf, Karlene Coleman, Wendy R. Kates, Marcella Devoto, Elaine H. Zackai, Damián Heine‐Suñer, Elizabeth Goldmuntz, Anne S. Bassett, Bernice E. Morrow, Beverly S. Emanuel

    Vydáno 2016
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  3. 3
    Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

    Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome Autor Elisabeth E. Mlynarski, Molly B. Sheridan, Michael Xie, Tingwei Guo, Silvia E. Racedo, Donna M. McDonald‐McGinn, Xiaowu Gai, Eva W.C. Chow, Jacob Vorstman, Ann Swillen, Koenraad Devriendt, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Nicole Philip, Tony J. Simon, Amy E. Roberts, Małgorzata Piotrowicz, Carrie E. Bearden, Stéphan Eliez, Doron Gothelf, Karlene Coleman, Wendy R. Kates, Marcella Devoto, Elaine H. Zackai, Damián Heine‐Suñer, Tamim H. Shaikh, Anne S. Bassett, Elizabeth Goldmuntz, Bernice E. Morrow, Beverly S. Emanuel

    Vydáno 2015
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  4. 4
    Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

    Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients Autor Tingwei Guo, Donna M. McDonald‐McGinn, Anna Błońska, Alan Shanske, Anne S. Bassett, Eva W.C. Chow, Mark Bowser, Molly B. Sheridan, Frits A. Beemer, Koenraad Devriendt, Ann Swillen, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob D. Johnson, Jonathan H. Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damián Heine‐Suñer, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine H. Zackai, Tao Wang, Robert J. Shprintzen, Beverly S. Emanuel, Bernice E. Morrow

    Vydáno 2011
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  5. 5
    Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

    Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes Autor Maria Delio, Tingwei Guo, Donna M. McDonald‐McGinn, Elaine H. Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jarlbrzkowski, Carrie E. Bearden, Alice Bailey, Anders Vangkilde, Line Olsen, Charlotte Olesen, Flemming Skovby, Thomas Werge, Ludivine Templin, Tiffany Busa, Nicole Philip, Ann Swillen, Joris Vermeesch, Koenraad Devriendt, Maude Schneider, Sophie Dahoun, Stéphan Eliez, Kelly Schoch, Stephen R. Hooper, Vandana Shashi, Joy Samanich, Robert Marion, Thérèse van Amelsvoort, Erik Boot, Petra Klaassen, Sasja N. Duijff, Jacob Vorstman, Tracy Yuen, Candice K. Silversides, Eva W.C. Chow, Anne S. Bassett, Amos Frisch, Abraham Weizman, Doron Gothelf, Maria Niarchou, Marianne B. M. van den Bree, Michael J. Owen, Damián Heine‐Suñer, Jordi Rosell Andreo, Marco Armando, Stefano Vicari, Maria Cristina Digilio, Adam Auton, Wendy R. Kates, Tao Wang, Robert J. Shprintzen, Beverly S. Emanuel, Bernice E. Morrow

    Vydáno 2013
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  6. 6
    Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

    Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion Autor Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand, Tracy Heung, Aaron M. Holleman, H. Richard Johnston, Thomas Monfeuga, Donna M. McDonald‐McGinn, Raquel E. Gur, Bernice E. Morrow, Ann Swillen, Jacob Vorstman, Carrie E. Bearden, Eva W. C. Chow, Marianne B. M. van den Bree, B S Emanuel, Joris Vermeesch, Stephen T. Warren, Michael J. Owen, Pankaj Chopra, David J. Cutler, Richard Duncan, Alex Kotlar, Jennifer G. Mulle, Anna J. Voss, Michael E. Zwick, Alexander Diacou, Aaron Golden, Tingwei Guo, Jhih-Rong Lin, Tao Wang, Zhengdong Zhang, Yingjie Zhao, Christian R. Marshall, Daniele Merico, Andrea Jin, Brenna Lilley, Harold I. Salmons, Oanh Tran, Peter Holmans, Antonio F. Pardiñas, James Walters, Wolfram Demaerel, Erik Boot, Nancy J. Butcher, Gregory Costain, Chelsea Lowther, Rens Evers, Thérèse van Amelsvoort, Esther van Duin, Claudia Vingerhoets, Jeroen Breckpot, Koenraad Devriendt, Elfi Vergaelen, Annick Vogels, T. Blaine Crowley, Daniel E. McGinn, Edward Moss, Robert Sharkus, Marta Unolt, Elaine H. Zackai, Monica E. Calkins, Robert S. Gallagher, Ruben C. Gur, Sunny X. Tang, Rosemarie Fritsch, Claudia Ornstein, Gabriela M. Repetto, Elemi Breetvelt, Sasja N. Duijff, Ania Fiksinski, Hayley Moss, Maria Niarchou, Kieran C. Murphy, Sarah E. Prasad, Eileen Daly, Maria Gudbrandsen, Clodagh M. Murphy, Declan Murphy, Antonio Buzzanca, Fabio Di Fabio, Maria Cristina Digilio, Maria Pontillo, Bruno Marino, Stefano Vicari, Karlene Coleman, Joseph F. Cubells, Opal Ousley, Miri Carmel, Doron Gothelf, Ehud Mekori‐Domachevsky, Elena Michaelovsky, Ronnie Weinberger, Abraham Weizman, Leila Kushan, Maria Jalbrzikowski, Marco Armando, Stéphan Eliez, Corrado Sandini, Maude Schneider

    Vydáno 2020
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