检索结果 - Lluı́s Armengol

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  1. 1
    Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

    Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements 由 Lluı́s Armengol

    出版 2003
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  2. 2
    Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies

    Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies 由 Xavier Estivill, Lluı́s Armengol

    出版 2007
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  3. 3
    Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

    Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons 由 Miguel Angel Pujana, Marga Nadal, Míriam Guitart, Lluı́s Armengol, Mónica Gratacòs, Xavier Estivill

    出版 2002
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  4. 4
    SNPassoc: an R package to perform whole genome association studies

    SNPassoc: an R package to perform whole genome association studies 由 Juan R. González, Lluı́s Armengol, Xavier Solé, Elisabet Guinó, Josep M. Mercader, Xavier Estivill, Vı́ctor Moreno

    出版 2007
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  5. 5
    Origin of Primate Orphan Genes: A Comparative Genomics Approach

    Origin of Primate Orphan Genes: A Comparative Genomics Approach 由 Macarena Toll‐Riera, N. van den Bosch, Nicolás Bellora, Robert Castelo, Lluı́s Armengol, Xavier Estivill, M. Mar Albà

    出版 2008
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  6. 6
    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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  7. 7
    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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  8. 8
    A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

    A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders 由 Mónica Gratacòs, Marga Nadal, Rocío Martín‐Santos, Miguel Angel Pujana, Jordi Gago, Belén Peral, Lluı́s Armengol, Immaculada Ponsa, Rosa Miró, Antoni Bulbena, Xavier Estivill

    出版 2001
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  9. 9
    Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

    Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing 由 Daniel Trujillano, Belén Pérez, Justo González, Cristian Tornador, Rosa Navarrete, Geòrgia Escaramís, Stephan Ossowski, Lluı́s Armengol, Verónica Cornejo, Lourdes R. Desviat, Magdalena Ugarte, Xavier Estivill

    出版 2013
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  10. 10
    Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling

    Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling 由 Sı́lvia Beà, Itziar Salaverría, Lluı́s Armengol, Magda Pinyol, Verónica Fernández, Elena Hartmann, Pedro Jares, Virginia Amador, Luís Hernández, Alba Navarro, German Ott, Andreas Rosenwald, Xavier Estivill, Elı́as Campo

    出版 2008
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  11. 11
    X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation 由 Irene Madrigal, Laia Rodríguez‐Revenga, Lluı́s Armengol, Eva González‐Roca, Benjamí Rodríguez, Célia Bádenas, Aurora Sánchez, Francisco Martı́nez, Míriam Guitart, Isabel Fernández-Carvajal, JA Arranz, María‐Isabel Tejada, LA Pérez-Jurado, Xavier Estivill, Montserrat Milà

    出版 2007
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  12. 12
    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis 由 Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé, Alberto Plaja, C. Mediano, Fe Amalia García‐Santiago, Manel García‐Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado, Luís Fernández, María Ángeles Mori, Lidia García‐Pérez, Pablo Lapunzina, Luis A. Pérez‐Jurado

    出版 2011
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  13. 13
    Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

    Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome 由 Benjamín Rodríguez‐Santiago, Núria Malats, Nathaniel Rothman, Lluı́s Armengol, Montserrat García‐Closas, Manolis Kogevinas, Olaya Villa, Amy Hutchinson, Julie Earl, Gaëlle Marenne, Kevin B. Jacobs, Daniel Rico, Adonina Tardón, Alfredo Carrato, Gilles Thomas, Alfonso Valencia, Debra T. Silverman, Francisco X. Real, Stephen J. Chanock, Luis A. Pérez‐Jurado

    出版 2010
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  14. 14
    Genome assembly comparison identifies structural variants in the human genome

    Genome assembly comparison identifies structural variants in the human genome 由 Razi Khaja, Junjun Zhang, Jeffrey R. MacDonald, Yongshu He, Ann M. Joseph‐George, John Wei, Muhammad Rafiq, Qian Cheng, Mary Shago, Lorena Pantano, Hiroyuki Aburatani, Keith Jones, Richard Redon, Matthew E. Hurles, Lluı́s Armengol, Xavier Estivill, Richard Mural, Charles Lee, Stephen W. Scherer, Lars Feuk

    出版 2006
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  15. 15
    Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

    Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis 由 Rafael de Cid, Eva Riveira‐Muñoz, Patrick L.J.M. Zeeuwen, Jason Robarge, Wilson Liao, Emma N. Dannhauser, Emiliano Giardina, Philip E. Stuart, Rajan P. Nair, Cynthia Helms, Geòrgia Escaramís, Ester Ballana, Gemma Martín‐Ezquerra, Martin den Heijer, Marijke Kamsteeg, Irma Joosten, Evan E. Eichler, Conxi Lázaro, Ramón M. Pujol, Lluı́s Armengol, Gonçalo R. Abecasis, James T. Elder, Giuseppe Novelli, John A.L. Armour, Pui‐Yan Kwok, A. Bowcock, Joost Schalkwijk, Xavier Estivill

    出版 2009
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  16. 16
    Global variation in copy number in the human genome

    Global variation in copy number in the human genome 由 Richard Redon, Shumpei Ishikawa, Karen Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wei‐Wen Chen, Eun Kyung Cho, Stephanie Dallaire, Jennifer L. Freeman, Juan R. González, Mónica Gratacòs, Jing Huang, Dimitrios Rafail Kalaitzopoulos, Daisuke Komura, Jeffrey R. MacDonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, K. Okamura, Fan Shen, Martin J. Somerville, Joëlle Tchinda, Armand Valsesia, Cara Woodwark, Fengtang Yang, Junjun Zhang, Tatiana Zerjal, Jane Zhang, Lluı́s Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler‐Smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith Jones, Stephen W. Scherer, Matthew E. Hurles

    出版 2006
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  17. 17
    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome 由 Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina

    出版 2015
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  18. 18
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes 由 Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

    出版 2008
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  19. 19
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 由 Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    出版 2023
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  20. 20
    Human Chromosome 7: DNA Sequence and Biology

    Human Chromosome 7: DNA Sequence and Biology 由 Stephen W. Scherer, Joseph Cheung, Jeffrey R. MacDonald, Lucy R. Osborne, Kazuhiko Nakabayashi, Jo-Anne Herbrick, Andrew R. Carson, Layla Parker-Katiraee, Jennifer Skaug, Razi Khaja, Junjun Zhang, Alexander K. Hudek, Martin Li, May Hobeika Haddad, Gavin E. Duggan, Bridget A. Fernandez, Emiko Kanematsu, S. Gentles, Constantine Christopoulos, Sanaa Choufani, Dorota A. Kwasnicka, Xiangqun Zheng-Bradley, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Małgorzata J.M. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H.Q. Heng, Pier Giuseppe Pelicci, Francesco Lo‐Coco, Elena Belloni, Lisa G. Shaffer, Barbara R. Pober, Cynthia C. Morton, James F. Gusella, G.A.P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung‐Goo Kim, Anne Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, E.J.T. Winsor, Karl‐Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Lluı́s Armengol, Miguel Ángel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David Oscier, Sarah Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard Mural, Mark D. Adams, Lap-Chee Tsui

    出版 2003
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