Výsledky vyhledávání - Jorge I. Vélez

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  1. 1
    Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene × gene interactions

    Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene × gene i... Autor Erich Roessler, Jorge I. Vélez, Nan Zhou, Maximilian Muenke

    Vydáno 2012
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  2. 2
    A common genetic network underlies substance use disorders and disruptive or externalizing disorders

    A common genetic network underlies substance use disorders and disruptive or externalizing disorders Autor Mauricio Arcos‐Burgos, Jorge I. Vélez, Benjamin D. Solomon, Maximilian Muenke

    Vydáno 2012
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  3. 3
    Validity and Reliability of the Multidimensional Scale of Perceived Social Support in Colombian Adolescents

    Validity and Reliability of the Multidimensional Scale of Perceived Social Support in Colombian Adolescents Autor Ana M. Trejos-Herrera, Marly Johana Bahamón, Yolima Alarcón-Vásquez, Jorge I. Vélez, Stéfano Vinaccia

    Vydáno 2018
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  4. 4
    Analysis of component findings in 79 patients diagnosed with VACTERL association

    Analysis of component findings in 79 patients diagnosed with VACTERL association Autor Benjamin D. Solomon, Daniel Pineda‐Alvarez, Manu S. Raam, Sophia M. Bous, Amelia A. Keaton, Jorge I. Vélez, Derek A. T. Cummings

    Vydáno 2010
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  5. 5
    Exosomes: Potential Disease Biomarkers and New Therapeutic Targets

    Exosomes: Potential Disease Biomarkers and New Therapeutic Targets Autor María Isabel Mosquera Heredia, Luis Carlos Morales, Oscar M. Vidal, Ernesto Barceló, Carlos Silvera‐Redondo, Jorge I. Vélez, Pilar Garavito

    Vydáno 2021
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  6. 6
    Genetic modifiers of cognitive decline in <i>PSEN1</i> E280A Alzheimer's disease

    Genetic modifiers of cognitive decline in <i>PSEN1</i> E280A Alzheimer's disease Autor Diego Sepúlveda‐Falla, Jorge I. Vélez, Natalia Acosta‐Baena, Ana Baena, Sonia Moreno, Susanne Krasemann, Francisco Lopera, Claudio A. Mastronardi, Mauricio Arcos‐Burgos

    Vydáno 2024
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  7. 7
    Analysis of genotype–phenotype correlations in human holoprosencephaly

    Analysis of genotype–phenotype correlations in human holoprosencephaly Autor Benjamin D. Solomon, Sandra Mercier, Jorge I. Vélez, Daniel Pineda‐Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Véronique David, Sylvie Odent, Erich Roessler, Maximilian Muenke

    Vydáno 2010
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  8. 8
    Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

    Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly Autor Erich Roessler, Maia V. Ouspenskaia, Jayaprakash D. Karkera, Jorge I. Vélez, Amy Kantipong, Felicitas Lacbawan, Peter N. Bowers, John W. Belmont, Jeffrey A. Towbin, Elizabeth Goldmuntz, Benjamin Feldman, Maximilian Muenke

    Vydáno 2008
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  9. 9
    Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C

    Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C Autor Nicole M. Yanjanin, Jorge I. Vélez, Andrea Gropman, Kelly King, Simona Bianconi, Sandra K. Conley, Carmen C. Brewer, Beth Solomon, William J. Pavan, Mauricio Arcos‐Burgos, Marc C. Patterson, Forbes D. Porter

    Vydáno 2009
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  10. 10
    The PHF21B gene is associated with major depression and modulates the stress response

    The PHF21B gene is associated with major depression and modulates the stress response Autor Ma‐Li Wong, Mauricio Arcos‐Burgos, S. Liu, Jorge I. Vélez, Chenglong Yu, Bernhard T. Baune, Magdalene C. Jawahar, Volker Arolt, Udo Dannlowski, Aaron Chuah, Gavin Huttley, Rhys Fogarty, Martin Lewis, Stefan R. Bornstein, Júlio Licinio

    Vydáno 2016
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  11. 11
    A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

    A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease Autor Diego Sepúlveda‐Falla, Lucía Chávez‐Gutiérrez, Erik Portelius, Jorge I. Vélez, Simon Dujardin, Álvaro Barrera-Ocampo, Felix Dinkel, Christian Hagel, Berta Puig, Claudio A. Mastronardi, Francisco Lopera, Bradley T. Hyman, Kaj Blennow, Mauricio Arcos‐Burgos, Bart De Strooper, Markus Glatzel

    Vydáno 2020
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  12. 12
    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand... Autor Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel Pineda‐Alvarez, Felicitas Lacbawan, Nan Zhou, Maia V. Ouspenskaia, Aimée Paulussen, Hubert Smeets, Ute Hehr, Claude Bendavid, Sherri J. Bale, Sylvie Odent, Véronique David, Maximilian Muenke

    Vydáno 2009
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  13. 13
    Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

    Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly Autor Erich Roessler, Wuhong Pei, Maia V. Ouspenskaia, Jayaprakash D. Karkera, Jorge I. Vélez, Sharmilla Banerjee-Basu, Gretchen Gibney, Philip J. Lupo, Laura E. Mitchell, Jeffrey A. Towbin, Peter N. Bowers, John W. Belmont, Elizabeth Goldmuntz, Andreas D. Baxevanis, Benjamin Feldman, Maximilian Muenke

    Vydáno 2009
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  14. 14
    A Lachnospiraceae-dominated bacterial signature in the fecal microbiota of HIV-infected individuals from Colombia, South America

    A Lachnospiraceae-dominated bacterial signature in the fecal microbiota of HIV-infected individuals from Colombia, South America Autor Homero San‐Juan‐Vergara, Eduardo Zurek, Nadim J. Ajami, Christian Mogollon, M.D. Peces Peña, Iván Portnoy, Jorge I. Vélez, Christian Cadena-Cruz, Yirys Díaz-Olmos, Leidy Hurtado-Gómez, Silvana Sanchez-Sit, Danitza Hernández, Irina Urruchurtu, Pierina Di-Ruggiero, Ella Guardo-García, Nury Torres, Oscar M. Vidal, Diego Viasus, Joseph F. Petrosino, Guillermo Cervantes-Acosta

    Vydáno 2018
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  15. 15
    APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease

    APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease Autor Jorge I. Vélez, Francisco Lopera, Diego Sepúlveda‐Falla, Hardip R. Patel, Angad Johar, Aaron Chuah, Carlos Tobón, Diego Rivera, Andrés Villegas, Yu Cai, Kun Peng, Ruth M. Arkell, F. Xavier Castellanos, Shea J. Andrews, M F Silva Lara, Penelope K. Creagh, Simon Easteal, José de León, Ma‐Li Wong, Júlio Licinio, Claudio A. Mastronardi, Mauricio Arcos‐Burgos

    Vydáno 2015
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  16. 16
    A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD

    A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD Autor Mahim Jain, Jorge I. Vélez, Maria T. Acosta, Luis Palacio, József Á. Balog, Erich Roessler, David Pineda, Ana C. Londoño, Juan David Palacio, A Arbelaez, Francisco Lopera, Josephine Elia, Hákon Hákonarson, Christiane Seitz, Christine M. Freitag, Haukur Pálmason, Jobst Meyer, Marcel Romanos, Susanne Walitza, U. Hemminger, Andreas Warnke, Jasmin Romanos, Tobias Renner, Christian Jacob, Klaus‐Peter Lesch, James M. Swanson, F. Xavier Castellanos, Joan E. Bailey‐Wilson, Mauricio Arcos‐Burgos, Maximilian Muenke

    Vydáno 2011
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  17. 17
    ADGRL3 (LPHN3) variants predict substance use disorder

    ADGRL3 (LPHN3) variants predict substance use disorder Autor Mauricio Arcos‐Burgos, Jorge I. Vélez, Ariel F. Martinez, Marta Ribasés, Josep Antoni Ramos‐Quiroga, Cristina Sánchez‐Mora, Vanesa Richarte, Carlos Roncero, Bru Cormand, Noèlia Fernàndez‐Castillo, Miguel Casas, Francisco Lopera, David Pineda, Juan David Palacio, Johan E. Acosta-López, Martha L. Cervantes-Henríquez, Manuel Sánchez-Rojas, Pedro Puentes Rozo, Brooke S. G. Molina, Margaret T. Boden, Deeann Wallis, Brett A. Lidbury, Saul Newman, Simon Easteal, James M. Swanson, Hardip R. Patel, Nora D. Volkow, Maria T. Acosta, F. Xavier Castellanos, José de León, Claudio A. Mastronardi, Maximilian Muenke

    Vydáno 2019
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  18. 18
    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

    Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals Autor B. D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth N. Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lore Wehner, Ute Hehr, Swarna Bale, A. Paulussen, Hubert J.M. Smeets, Emily Hardisty, Anna Tylki‐Szymańska, Ewa Pronicka, Marcell Clemens, Elizabeth McPherson, Raoul C. M. Hennekam, Jin S. Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Can Schell-Apacik, Carol W. Booth, R. L. Thomas, Sue Kenwrick, Derek A. T. Cummings, Sophia M. Bous, Amelia A. Keaton, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Rui Long, Jorge I. Vélez, Daniel Pineda‐Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke

    Vydáno 2009
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  19. 19
    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

    Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function Autor Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler, Kênia Balbi El-Jaick, Sabina Domené, Jorge I. Vélez, Nan Zhou, Donald W. Hadley, Joan Z. Balog, R Long, Alan Fryer, Wendy E. Smith, SA Omar, Scott D. McLean, Katie Clarkson, Angie Lichty, Nancy J. Clegg, Mauricio R. Delgado, Eric Levey, Elaine Stashinko, Lorraine Potocki, Margot I VanAllen, Jill Clayton‐Smith, Dian Donnai, Diana W. Bianchi, Pétur Benedikt Júlíusson, Pål R. Njølstad, Han G. Brunner, John C. Carey, Ute Hehr, Jörg Müsebeck, Peter Wieacker, A Postra, Raoul C. M. Hennekam, M-J H van den Boogaard, Arie van Haeringen, Aimée Paulussen, J. Herbergs, Connie Schrander‐Stumpel, Andreas Janecke, David Chitayat, Jin S. Hahn, Donna M. McDonald‐McGinn, Elaine H. Zackai, William B. Dobyns, Maximilian Muenke

    Vydáno 2009
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  20. 20
    A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

    A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication Autor Mauricio Arcos‐Burgos, Mahim Jain, Maria T. Acosta, Sharon B. Shively, Horia Stanescu, David H. Wallis, Sabina Domené, Jorge I. Vélez, Jayaprakash D. Karkera, József Á. Balog, K Berg, Robert Kleta, William A. Gahl, Erich Roessler, Rui Long, J. Lie, David Pineda, Ana C. Londoño, Juan David Palacio, A Arbelaez, Francisco Lopera, Josephine Elia, Hákon Hákonarson, Stefan Johansson, P.M. Knappskog, Jan Haavik, Marta Ribasés, Bru Cormand, Mónica Bayés, Miguel Casas, Josep Antoni Ramos‐Quiroga, Amaia Hervás, Brion S. Maher, Stephen V. Faraone, Christiane Seitz, Christine M. Freitag, Haukur Pálmason, Jobst Meyer, Marcel Romanos, Susanne Walitza, U. Hemminger, Andreas Warnke, Jasmin Romanos, Tobias Renner, Christian Jacob, Klaus‐Peter Lesch, James M. Swanson, Alexander O. Vortmeyer, Joan E. Bailey‐Wilson, F. Xavier Castellanos, Maximilian Muenke

    Vydáno 2010
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