Browsing Recerca: articles, congressos, llibres by Author "Eichler, Evan E."

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Browsing Recerca: articles, congressos, llibres by Author "Eichler, Evan E."

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  • Marquès i Bonet, Tomàs, 1975-; Kidd, Jeffrey M.; Ventura, Mario; Graves, Tina A.; Cheng, Ze; Hillier, LaDeana W.; Jiang, Zhaoshi; Baker, Carl; Malfavon-Borja, Ray; Fulton, Lucinda A.; Alkan, Can; Aksay, Gozde; Girirajan, Santhosh; Siswara, Priscillia; Chen, Lin; Cardone, Maria Francesca; Navarro i Cuartiellas, Arcadi, 1969-; Mardis, Elaine R.; Wilson, Richard K.; Eichler, Evan E. (Nature Publishing Group, 2009)
    It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change. Between these two groups, proteins are virtually identical, cytogenetically there ...
  • Bekpen, Cemalettin; Marquès i Bonet, Tomàs, 1975-; Alkan, Can; Antonacci, Francesca; Leogrande, Maria Bruna; Ventura, Mario; Kidd, Jeffrey M.; Siswara, Priscillia; Howard, Jonathan C.; Eichler, Evan E. (Public Library of Science (PLoS), 2009)
    Immunity-related GTPases (IRG) play an important role in defense against intracellular pathogens. One member of this gene family in humans, IRGM, has been recently implicated as a risk factor for Crohn's disease. We analyzed ...
  • Ventura, Mario; Catacchio, Claudia R.; Alkan, Can; Marquès i Bonet, Tomàs, 1975-; Saijadian, Saba; Graves, Tina A.; Hormozdiari, Fereydoun; Navarro i Cuartiellas, Arcadi, 1969-; Malig, Maika; Baker, Carl; Lee, Choli; Turner, Emily H.; Chen, Lin; Kidd, Jeffrey M.; Archidiacono, Nicoletta; Shendure, Jay; Wilson, Richard K.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2011)
    Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched ...
  • Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; Ten Hallers, Boudewijn; Humphray, Sean; Zhu, Baoli; Eyras Jiménez, Eduardo; Castelo, Robert; Bird, Christine P.; Gagos, Sarantos; Scott, Carol; Cox, Antony; Deutsch, Samuel; Ucla, Catherine; Cruts, Marc; Dahoun, Sophie; She, Xinwei; Bena, Frederique; Wang, Sheng-Yue; Van Broeckhoven, Christine; Eichler, Evan E.; Guigó Serra, Roderic; Rogers, Jane; De Jong, Pieter J.; Reymond, Alexandre; Antonarakis, Stylianos E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2007)
    The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. ...
  • Girirajan, Santhosh; Chen, Lin; Graves, Tina; Marquès i Bonet, Tomàs, 1975-; Ventura, Mario; Fronick, Catrina; Fulton, Lucinda; Rocchi, Mariano; Fulton, Robert S.; Wilson, Richard K.; Mardis, Elaine R.; Eichler, Evan E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2009)
    The gibbon genome exhibits extensive karyotypic diversity with an increased rate of chromosomal rearrangements during evolution. In an effort to understand the mechanistic origin and implications of these rearrangement ...
  • Marquès i Bonet, Tomàs, 1975-; Ryder, Oliver A.; Eichler, Evan E. (Annual Reviews Inc, 2009)
    We summarize the progress in whole-genome sequencing and analyses of primate genomes. These emerging genome datasets have broadened our understanding of primate genome evolution revealing unexpected and complex patterns ...
  • Prado Martínez, Javier; Hernando Herráez, Irene; Lorente-Galdós, Belén, 1981-; Dabad, Marc; Ramírez Bellido, Òscar; Baeza Delgado, Carlos; Morcillo Suárez, Carlos; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernández Callejo, Marcos; Vallès, Mònica; Ritscher, Lars; Schöneberg, Torsten; Calle Mustienes, Elisa de la; Casillas, Sònia; Rubio Acero, Raquel; Melé Messeguer, Marta, 1982-; Engelken, Johannes; Cáceres, Mario; Gómez Skarmeta, José Luis; Gut, Marta; Bertranpetit, Jaume, 1952-; Gut, Ivo G.; Abelló, Teresa; Eichler, Evan E.; Mingarro, Ismael; Lalueza Fox, Carles, 1965-; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975- (BioMed Central, 2013)
    BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous ...
  • Marquès i Bonet, Tomàs, 1975-; Cheng, Ze; She, Xinwei; Eichler, Evan E.; Navarro i Cuartiellas, Arcadi, 1969- (BioMed Central, 2008)
    Background: It has been suggested that chromosomal rearrangements harbor the molecular footprint of the biological phenomena which they induce, in the form, for instance, of changes in the sequence divergence rates of ...
  • Marquès i Bonet, Tomàs, 1975-; Girirajan, Santhosh; Eichler, Evan E. (Elsevier, 2009)
    Duplicated sequences are substrates for the emergence of new genes and are an important source of genetic instability associated with rare and common diseases. Analyses of primate genomes have shown an increase in the ...

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