Found: 6

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  • Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.

    Published in:
    Human Molecular Genetics, 2005, v. 14, n. 23, p. 3741, doi. 10.1093/hmg/ddi404
    By:
    • Deutsch, Samuel;
    • Lyle, Robert;
    • Dermitzakis, Emmanouil T.;
    • Attar, Homa;
    • Subrahmanyan, Lakshman;
    • Gehrig, Corinne;
    • Parand, Leila;
    • Gagnebin, Maryline;
    • Rougemont, Jacques;
    • Jongeneel, C. Victor;
    • Antonarakis, Stylianos E.
    Publication type:
    Article

  • Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 1, p. 1, doi. 10.1371/journal.pgen.1004958
    By:
    • Gutierrez-Arcelus, Maria;
    • Ongen, Halit;
    • Lappalainen, Tuuli;
    • Montgomery, Stephen B.;
    • Buil, Alfonso;
    • Yurovsky, Alisa;
    • Bryois, Julien;
    • Padioleau, Ismael;
    • Romano, Luciana;
    • Planchon, Alexandra;
    • Falconnet, Emilie;
    • Bielser, Deborah;
    • Gagnebin, Maryline;
    • Giger, Thomas;
    • Borel, Christelle;
    • Letourneau, Audrey;
    • Makrythanasis, Periklis;
    • Guipponi, Michel;
    • Gehrig, Corinne;
    • Antonarakis, Stylianos E.
    Publication type:
    Article

  • Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
    By:
    • Béna, Frédérique;
    • Bruno, Damien L.;
    • Eriksson, Mats;
    • van Ravenswaaij‐Arts, Conny;
    • Stark, Zornitza;
    • Dijkhuizen, Trijnie;
    • Gerkes, Erica;
    • Gimelli, Stefania;
    • Ganesamoorthy, Devika;
    • Thuresson, Ann Charlotte;
    • Labalme, Audrey;
    • Till, Marianne;
    • Bilan, Frédéric;
    • Pasquier, Laurent;
    • Kitzis, Alain;
    • Dubourgm, Christele;
    • Rossi, Massimiliano;
    • Bottani, Armand;
    • Gagnebin, Maryline;
    • Sanlaville, Damien
    Publication type:
    Article

  • Extensive Natural Variation for Cellular Hydrogen Peroxide Release Is Genetically Controlled.

    Published in:
    PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043566
    By:
    • Attar, Homa;
    • Bedard, Karen;
    • Migliavacca, Eugenia;
    • Gagnebin, Maryline;
    • Dupré, Yann;
    • Descombes, Patrick;
    • Borel, Christelle;
    • Deutsch, Samuel;
    • Prokisch, Holger;
    • Meitinger, Thomas;
    • Mehta, Divya;
    • Wichmann, Erich;
    • Delabar, Jean Maurice;
    • Dermitzakis, Emmanouil T.;
    • Krause, Karl.-Heinz;
    • Antonarakis, Stylianos E.;
    • Ahuja, Sunil K.
    Publication type:
    Article

  • Domains of genome-wide gene expression dysregulation in Down's syndrome.

    Published in:
    Nature, 2014, v. 508, n. 7496, p. 345, doi. 10.1038/nature13200
    By:
    • Letourneau, Audrey;
    • Santoni, Federico A.;
    • Bonilla, Ximena;
    • Sailani, M. Reza;
    • Gonzalez, David;
    • Kind, Jop;
    • Chevalier, Claire;
    • Thurman, Robert;
    • Sandstrom, Richard S.;
    • Hibaoui, Youssef;
    • Garieri, Marco;
    • Popadin, Konstantin;
    • Falconnet, Emilie;
    • Gagnebin, Maryline;
    • Gehrig, Corinne;
    • Vannier, Anne;
    • Guipponi, Michel;
    • Farinelli, Laurent;
    • Robyr, Daniel;
    • Migliavacca, Eugenia
    Publication type:
    Article

  • Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB.

    Published in:
    Human Mutation, 2012, v. 33, n. 8, p. 1302, doi. 10.1002/humu.22115
    By:
    • Borel, Christelle;
    • Migliavacca, Eugenia;
    • Letourneau, Audrey;
    • Gagnebin, Maryline;
    • Béna, Frédérique;
    • Sailani, M. Reza;
    • Dermitzakis, Emmanouil T.;
    • Sharp, Andrew J.;
    • Antonarakis, Stylianos E.
    Publication type:
    Article