檢索結果 - Damián Heine‐Suñer

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  1. 1
    The Triad of Blood–Brain Barrier Integrity: Endothelial Cells, Astrocytes, and Pericytes in Perinatal Stroke Pathophysiology

    The Triad of Blood–Brain Barrier Integrity: Endothelial Cells, Astrocytes, and Pericytes in Perinatal Stroke Pathophysiology 由 Tania Garcia-Martínez, Denise Gala Gornatti, Marina Ortiz, Guillem Cañellas, Damián Heine‐Suñer, Cristòfol Vives-Bauzà

    出版 2025
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  2. 2
    Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation

    Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phos... 由 Estefanía Piñero-Martos, Bernardo Ortega-Vila, Josep Pol-Fuster, Eugenia Cisneros‐Barroso, Laura Ruiz-Guerra, Aina Medina-Dols, Damián Heine‐Suñer, Jerònia Lladó, Gabriel Olmos, Cristòfol Vives-Bauzà

    出版 2016
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    Artigo
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  3. 3
    Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour

    Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour 由 Oriol Calvete, José Reyes, S. Zúñiga, Beatriz Paumard‐Hernández, María Victoria Fernández, Luís Bujanda, María Rodríguez‐Pinilla, José Palacios, Damián Heine‐Suñer, Siddharth Banka, William G. Newman, Marta Cañamero, D. Mark Pritchard, Javier Benı́tez

    出版 2015
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    Artigo
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  4. 4
    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review 由 Luís Fernández, Julián Nevado, Fernando Santos, Damián Heine‐Suñer, Víctor Martínez‐Glez, Sixto García‐Miñaúr, R. Garrido Palomo, Alicia Delicado, I. López Pajares, María Palomares‐Bralo, Luis García‐Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina

    出版 2009
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    Artigo
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  5. 5
    Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation

    Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation 由 Laura Torres‐Juan, Jordi Rosell, Montse Morlá, Catalina Vidal-Pou, Fernando García-Algas, Maria-Angeles de la Fuente, Miguel Juan, A. Tubau, Daniel Bachiller, Marta Bernués, Ángeles Pérez‐Granero, Nancy Govea, Xavier Busquets, Damián Heine‐Suñer

    出版 2007
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    Artigo
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  6. 6
    Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

    Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS) 由 Sara Benito‐Sanz, Eva Barroso, Damián Heine‐Suñer, Alfonso Hisado-Oliva, Valeria Romanelli, Jordi Rosell, Ángel Aragonés, María Caimari, Jesús Argente, Judith L. Ross, Andrew R. Zinn, R Gracia, Pablo Lapunzina, Ángel Campos‐Barros, Karen E. Heath

    出版 2010
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    Artigo
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  7. 7
    Epigenetic differences arise during the lifetime of monozygotic twins

    Epigenetic differences arise during the lifetime of monozygotic twins 由 Mario F. Fraga, Esteban Ballestar, Maria F. Paz, Santiago Ropero, Fernando Setién, Maria Luisa Ballestar, Damián Heine‐Suñer, Juan C. Cigudosa, Miguel Urioste, Javier Benı́tez, Manuel Boix-Chornet, Abel Sánchez‐Aguilera, Charlotte Ling, Emma Carlsson, Pernille Poulsen, Allan Vaag, Zarko Stephan, Tim D. Spector, Yue-Zhong Wu, Christoph Plass, Manel Esteller

    出版 2005
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  8. 8
    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 由 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

    出版 2016
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  9. 9
    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 由 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

    出版 2015
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  10. 10
    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 由 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

    出版 2011
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  11. 11
    Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

    Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome 由 R. W. Davies, Ania Fiksinski, Elemi Breetvelt, Nigel Williams, Stephen R. Hooper, Thomas Monfeuga, Anne S. Bassett, Michael J. Owen, Raquel E. Gur, Bernice E. Morrow, Donna M. McDonald‐McGinn, Ann Swillen, Eva W.C. Chow, Marianne B. M. van den Bree, Beverly S. Emanuel, Joris Vermeesch, Thérèse van Amelsvoort, Celso Arango, Marco Armando, Linda Campbell, Joseph F. Cubells, Stéphan Eliez, Sixto García‐Miñaúr, Doron Gothelf, Wendy R. Kates, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Nicole Philip, Gabriela M. Repetto, Vandana Shashi, Tony J. Simon, Damián Heine‐Suñer, Stefano Vicari, Stephen W. Scherer, Carrie E. Bearden, Jacob Vorstman

    出版 2020
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  12. 12
    Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

    Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects 由 Yingjie Zhao, Tingwei Guo, Ania Fiksinski, Elemi Breetvelt, Donna M. McDonald‐McGinn, T. Blaine Crowley, Alexander Diacou, Maude Schneider, Stéphan Eliez, Ann Swillen, Jeroen Breckpot, Joris Vermeesch, Eva W.C. Chow, Doron Gothelf, Sasja N. Duijff, Rens Evers, Thérèse A. van Amelsvoort, Marianne B. M. van den Bree, Michael J. Owen, Maria Niarchou, Carrie E. Bearden, Claudia Ornstein, Maria Pontillo, Antonino Buzzanca, Stefano Vicari, Marco Armando, Kieran C. Murphy, Clodagh M. Murphy, Sixto García‐Miñaúr, Nicole Philip, Linda Campbell, Jaume Morey‐Cañellas, Jasna Raventos, Jordi Rosell, Damián Heine‐Suñer, Robert J. Shprintzen, Raquel E. Gur, Elaine H. Zackai, Beverly S. Emanuel, Tao Wang, Wendy R. Kates, Anne S. Bassett, Jacob Vorstman, Bernice E. Morrow

    出版 2018
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  13. 13
    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 由 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

    出版 2013
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  14. 14
    Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

    Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects 由 Yingjie Zhao, Alexander Diacou, H. Richard Johnston, Fadi I. Musfee, Donna M. McDonald‐McGinn, Daniel E. McGinn, T. Blaine Crowley, Gabriela M. Repetto, Ann Swillen, Jeroen Breckpot, Joris Vermeesch, Wendy R. Kates, M. Cristina Digilio, Marta Unolt, Bruno Marino, Maria Pontillo, Marco Armando, Fabio Di Fabio, Stefano Vicari, Marianne B. M. van den Bree, Hayley Moss, Michael J. Owen, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Kelly Schoch, Vandana Shashi, Flora Tassone, Tony J. Simon, Robert J. Shprintzen, Linda Campbell, Nicole Philip, Damián Heine‐Suñer, Sixto García‐Miñaúr, Luis C. Fernández, Carrie E. Bearden, Claudia Vingerhoets, Thérèse van Amelsvoort, Stéphan Eliez, Maude Schneider, Jacob Vorstman, Doron Gothelf, Elaine H. Zackai, A. J. Agopian, Raquel E. Gur, Anne S. Bassett, Beverly S. Emanuel, Elizabeth Goldmuntz, Laura E. Mitchell, Tao Wang, Bernice E. Morrow, Stylianos E. Antonarakis, Massimo Biondi, Erik Boot, Elemi Breetvelt, Tiffany Busa, Nancy J. Butcher, Antonino Buzzanca, Miri Carmel, Isabelle Cleynen, David J. Cutler, Bruno Dallapiccola, María Angeles de la Fuente Sanches, Michael P. Epstein, Rens Evers, Luis C. Fernández, Rosemarie Fritsch, Fernando García Algas, Tingwei Guo, Raquel E. Gur, Matthew S. Hestand, Tracy Heung, Stephen R. Hooper, Andrea Jin, Leila Kushan, Alejandra Laorden-Nieto, Guido Maria Lattanzi, Christian Marshall, Kathryn McCabe, Elena Michaelovsky, Claudia Ornstein, Candice K. Silversides, Oanh Tran, Esther D.A. van Duin, Elfi Vergaelen, Steve T. Warren, Ronnie Weinberger, Abraham Weizman, Zhengdong Zhang, Michael E. Zwick

    出版 2019
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