检索结果 - Luis A. Pérez‐Jurado

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  1. 1
    Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

    Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 由 Anna Antonell, Oscar de Luis, Xavier Domingo‐Roura, Luis A. Pérez‐Jurado

    出版 2005
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  2. 2
    One level up: abnormal proteolytic regulation of <scp>IGF</scp> activity plays a role in human pathophysiology

    One level up: abnormal proteolytic regulation of <scp>IGF</scp> activity plays a role in human pathophysiology 由 Jesús Argente, Julie A. Chowen, Luis A. Pérez‐Jurado, Jan Frystyk, Claus Oxvig

    出版 2017
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  3. 3
    Extreme Downregulation of Chromosome Y and Cancer Risk in Men

    Extreme Downregulation of Chromosome Y and Cancer Risk in Men 由 Alejandro Cáceres, Aina Jené, Tõnu Esko, Luis A. Pérez‐Jurado, Juan R. González

    出版 2019
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  4. 4
    DNA methylation abnormalities in congenital heart disease

    DNA methylation abnormalities in congenital heart disease 由 Clara Serra‐Juhé, Ivon Cuscó, Aïda Homs, Raquel Flores, Núria Torán, Luis A. Pérez‐Jurado

    出版 2015
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  5. 5
    A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

    A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23 由 Y.-K. Wang, Cynthia Harryman Samos, Risa Peoples, Luis A. Pérez‐Jurado, Roel Nusse, Uta Francke

    出版 1997
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  6. 6
    Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

    Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes 由 Mireia Vilardell, Axel Rasche, Anja Thormann, Elisabeth Maschke-Dutz, Luis A. Pérez‐Jurado, Hans Lehrach, Ralf Herwig

    出版 2011
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  7. 7
    Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

    Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion 由 Ivon Cuscó, Roser Corominas, Mónica Bayés, Raquel Flores, Núria Rivera‐Bruguès, Victoria Campuzano, Luis A. Pérez‐Jurado

    出版 2008
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  8. 8
    A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

    A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23 由 Risa Peoples, Yvonne Franke, Yu-Ker Wang, Luis A. Pérez‐Jurado, Tamar Paperna, Michael J. Cisco, Uta Francke

    出版 2000
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  9. 9
    Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders

    Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders 由 Aïda Homs, Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Cristina M. Villanueva, David Monk, Ivon Cuscó, Luis A. Pérez‐Jurado

    出版 2016
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  10. 10
    A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

    A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data 由 Juan R. González, Benjamín Rodríguez‐Santiago, Alejandro Cáceres, Roger Piqué-Regi, Nathaniel Rothman, Stephen J. Chanock, Lluı́s Armengol, Luis A. Pérez‐Jurado

    出版 2011
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  11. 11
    NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

    NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine 由 Anna Abulí, Montserrat Boada, Benjamín Rodríguez‐Santiago, Buenaventura Coroleu, Anna Veiga, Lluı́s Armengol, Pedro N. Barri, Luis A. Pérez‐Jurado, Xavier Estivill

    出版 2016
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  12. 12
    Heterozygous rare genetic variants in non-syndromic early-onset obesity

    Heterozygous rare genetic variants in non-syndromic early-onset obesity 由 Clara Serra‐Juhé, Gabriel Ángel Martos‐Moreno, Francesc Bou de Pieri, Raquel Flores, Julie A. Chowen, Luis A. Pérez‐Jurado, Jesús Argente

    出版 2019
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  13. 13
    bigSCale: an analytical framework for big-scale single-cell data

    bigSCale: an analytical framework for big-scale single-cell data 由 Giovanni Iacono, Elisabetta Mereu, Amy Guillaumet-Adkins, Roser Corominas, Ivon Cuscó, Gustavo Rodríguez-Esteban, Marta Gut, Luis A. Pérez‐Jurado, Marta Gut, Holger Heyn

    出版 2018
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  14. 14
    Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency

    Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency 由 Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Ángel Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A. Chowen, Mikko J. Frilander, Luis A. Pérez‐Jurado

    出版 2014
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  15. 15
    Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

    Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder 由 Ivon Cuscó, Aida Medrano, Blanca Gener, Mireia Vilardell, F. Gallastegui, Olaya Villa, Eva González‐Roca, Benjamín Rodríguez‐Santiago, Elisabet Vilella, Miguel Del Campo, Luis A. Pérez‐Jurado

    出版 2009
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  16. 16
    Facial emotion processing in patients with social anxiety disorder and Williams–Beuren syndrome: an fMRI study

    Facial emotion processing in patients with social anxiety disorder and Williams–Beuren syndrome: an fMRI study 由 Cynthia Binelli, Armando Muñiz, Susana Subirà, Ricard Navinés, Laura Blanco‐Hinojo, D. Pérez-García, José Alexandre S. Crippa, Magı́ Farré, Luis A. Pérez‐Jurado, Jesús Pujol, Rocı́o Martı́n-Santos

    出版 2016
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  17. 17
    New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

    New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 由 Vanesa Álvarez-Iglesias, Ana Mosquera‐Miguel, María Cerezo, Beatriz Quintáns, Marı́a T. Zarrabeitia, Ivon Cuscó, M.V. Lareu, O. García, Luis A. Pérez‐Jurado, Ángel Carracedo, Antonio Salas

    出版 2009
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  18. 18
    Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder

    Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder 由 María Segura‐Puimedon, Ignasi Sahún, Émilie Velot, Pierre Dubus, Cristina Borralleras, Ana João Rodrigues, Carmen Valero, Olga Valverde, Nuno Sousa, Yann Hérault, Mara Dierssen, Luis A. Pérez‐Jurado, Victoria Campuzano

    出版 2014
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  19. 19
    Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

    Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus 由 Martin J. Somerville, Carolyn Β. Mervis, Edwin J. Young, Eul‐Ju Seo, Miguel Del Campo, Stephen Bamforth, Ella Peregrine, Wayne Loo, Margaret Lilley, Luis A. Pérez‐Jurado, Colleen A. Morris, Stephen W. Scherer, Lucy R. Osborne

    出版 2005
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  20. 20
    Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency

    Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency 由 M.T. Muñoz-Calvo, Vicente Barrios, Jesús Pozo, Julie A. Chowen, Gabriel Ángel Martos‐Moreno, Federico Hawkins, Andrew Dauber, Horacio M. Domené, Shoshana Yakar, Ron G. Rosenfeld, Luis A. Pérez‐Jurado, Claus Oxvig, Jan Frystyk, Jesús Argente

    出版 2016
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