Works matching AU Romana, Serge

Results: 36
    1

    Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
    By:
    • Malan, Valérie;
    • Chevallier, Suzanne;
    • Soler, Gwendoline;
    • Coubes, Christine;
    • Lacombe, Didier;
    • Pasquier, Laurent;
    • Soulier, Jean;
    • Morichon-Delvallez, Nicole;
    • Turleau, Catherine;
    • Munnich, Arnold;
    • Romana, Serge;
    • Vekemans, Michel;
    • Cormier-Daire, Valérie;
    • Colleaux, Laurence
    Publication type:
    Article
    2

    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1033, doi. 10.1038/sj.ejhg.5201448
    By:
    • Geneviève, David;
    • Sanlaville, Damien;
    • Faivre, Laurence;
    • Kottler, Marie-Laure;
    • Jambou, Marguerite;
    • Gosset, Philippe;
    • Boustani-Samara, Dinane;
    • Pinto, Graziella;
    • Ozilou, Catherine;
    • Abeguilé, Geneviève;
    • Munnich, Arnold;
    • Romana, Serge;
    • Raoul, Odile;
    • Cormier-Daire, Valérie;
    • Vekemans, Michel
    Publication type:
    Article
    3

    Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
    By:
    • Sanlaville, Damien;
    • Genevieve, David;
    • Bernardin, Céline;
    • Amiel, Jeanne;
    • Baumann, Clarisse;
    • de Blois, Marie-Christine;
    • Cormier-Daire, Valérie;
    • Gerard, Bénédicte;
    • Gerard, Marion;
    • Le Merrer, Martine;
    • Parent, Philippe;
    • Prieur, Fabienne;
    • Prieur, Marguerite;
    • Raoul, Odile;
    • Toutain, Annick;
    • Verloes, Alain;
    • Viot, Géraldine;
    • Romana, Serge;
    • Munnich, Arnold;
    • Lyonnet, Stanislas
    Publication type:
    Article
    4

    Functional disomy of the Xq28 chromosome region.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 5, p. 579, doi. 10.1038/sj.ejhg.5201384
    By:
    • Sanlaville, Damien;
    • Prieur, Marguerite;
    • de Blois, Marie-Christine;
    • Genevieve, David;
    • Lapierre, Jean-Michel;
    • Ozilou, Catherine;
    • Picq, Monique;
    • Gosset, Philippe;
    • Morichon-Delvallez, Nicole;
    • Munnich, Arnold;
    • Cormier-Daire, Valerie;
    • Baujat, Genevieve;
    • Romana, Serge;
    • Vekemans, Michel;
    • Turleau, Catherine
    Publication type:
    Article
    5

    Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

    Published in:
    European Journal of Human Genetics, 2002, v. 10, n. 11, p. 699, doi. 10.1038/sj.ejhg.5200879
    By:
    • Faivre, Laurence;
    • Gosset, Philippe;
    • Cormier-Daire, Valérie;
    • Odent, Sylvie;
    • Amiel, Jeanne;
    • Giurgea, Irina;
    • Nassogne, Marie-Cécile;
    • Pasquier, Laurent;
    • Munnich, Arnold;
    • Romana, Serge;
    • Prieur, Marguerite;
    • Vekemans, Michel;
    • de Blois, Marie-Christine;
    • Turleau, Catherine
    Publication type:
    Article
    6

    A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
    By:
    • Colleaux, Laurence;
    • Rio, Marlène;
    • Heuertz, Solange;
    • Moindrault, Séverine;
    • Turleau, Catherine;
    • Ozilou, Catherine;
    • Gosset, Philippe;
    • Raoult, Odile;
    • Lyonnet, Stanislas;
    • Cormier-Daire, Valérie;
    • Amiel, Jeanne;
    • Le Merrer, Martine;
    • Picq, Monique;
    • de Blois, Marie-Christine;
    • Prieur, Marguerite;
    • Romana, Serge;
    • Cornelis, François;
    • Vekemans, Michel;
    • Munnich, Arnold
    Publication type:
    Article
    7
    8
    9
    10
    11
    12
    13
    14

    Chromosome painting in acute monocytic leukemia.

    Published in:
    Genes, Chromosomes & Cancer, 1993, v. 6, n. 2, p. 107, doi. 10.1002/gcc.2870060207
    By:
    • Cherif, Dorra;
    • Romana, Serge;
    • Der-Sarkissian, Hera;
    • Jones, Carol;
    • Berger, Roland
    Publication type:
    Article
    15
    16

    First Fetal Case of the 8q24.3 Contiguous Genes Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 239, doi. 10.1002/ajmg.a.37411
    By:
    • Wells, Constance;
    • Spaggiari, Emmanuel;
    • Malan, Valérie;
    • Stirnemann, Julien J.;
    • Attie‐Bitach, Tania;
    • Ville, Yves;
    • Vekemans, Michel;
    • Bessieres, Bettina;
    • Romana, Serge
    Publication type:
    Article
    17
    18

    Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

    Published in:
    2011
    By:
    • Magerus-Chatinet, Aude;
    • Neven, Bénédicte;
    • Stolzenberg, Marie-Claude;
    • Daussy, Cécile;
    • Arkwright, Peter O.;
    • Lanzarotti, Nina;
    • Schaffner, Catherine;
    • Cluet-Dennetiere, Sophie;
    • Haerynck, Filomeen;
    • Michel, Gérard;
    • Bole-Feysot, Christine;
    • Zarhrate, Mohammed;
    • Radford-Weiss, Isabelle;
    • Romana, Serge P.;
    • Picard, Capucine;
    • Fischer, Alain;
    • Rieux-Laucat, Frédéric;
    • Neven, Bénédicte;
    • Daussy, Cécile;
    • Arkwright, Peter D
    Publication type:
    journal article
    19
    20

    The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

    Published in:
    Human Genetics, 2000, v. 107, n. 3, p. 276, doi. 10.1007/s004390000350
    By:
    • Gerber, Sylvie;
    • Rozet, Jean-Michel;
    • Takezawa, Shin-Ichiro;
    • Coutinho dos Santos, Luisa;
    • Lopes, Lucilia;
    • Gribouval, Olivier;
    • Penet, Clotilde;
    • Perrault, Isabelle;
    • Ducroq, Dominique;
    • Souied, Eric;
    • Jeanpierre, Marc;
    • Romana, Serge;
    • Frézal, Jean;
    • Ferraz, Fernando;
    • Yu-Umesono, Ruth;
    • Munnich, Arnold;
    • Kaplan, Josseline
    Publication type:
    Article
    21

    The TEL gene products: nuclear phosphoproteins with DNA binding properties.

    Published in:
    Oncogene, 1997, v. 14, n. 3, p. 349, doi. 10.1038/sj.onc.1200829
    By:
    • Poirel, Hélène;
    • Oury, Cécile;
    • Carron, Clémence;
    • Duprez, Estelle;
    • Laabi, Yacine;
    • Tsapis, Andréas;
    • Romana, Serge P;
    • Mauchauffe, Martine;
    • Le Coniat, Maryvonne;
    • Berger, Roland;
    • Ghysdael, Jacques;
    • Bernard, Olivier A
    Publication type:
    Article
    22
    23

    Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2266, doi. 10.1093/hmg/ddp162
    By:
    • Carré, Aurore;
    • Szinnai, Gabor;
    • Castanet, Mireille;
    • Sura-Trueba, Sylvia;
    • Tron, Elodie;
    • Broutin-L’Hermite, Isabelle;
    • Barat, Pascal;
    • Goizet, Cyril;
    • Lacombe, Didier;
    • Moutard, Marie-Laure;
    • Raybaud, Christine;
    • Raynaud-Ravni, Catherine;
    • Romana, Serge;
    • Ythier, Hubert;
    • Léger, Juliane;
    • Polak, Michel
    Publication type:
    Article
    24

    Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

    Published in:
    Human Molecular Genetics, 2002, v. 11, n. 26, p. 3273, doi. 10.1093/hmg/11.26.3273
    By:
    • de Lonlay, Pascale;
    • Mugnier, Claude;
    • Sanlaville, Damien;
    • Chantrel-Groussard, Karine;
    • Bénit, Paule;
    • Lebon, Sophie;
    • Chrétien, Dominique;
    • Kadhom, Noman;
    • Saker, Safa;
    • Gyapay, Gabor;
    • Romana, Serge;
    • Weissenbach, Jean;
    • Munnich, Arnold;
    • Rustin, Pierre;
    • Rötig, Agnès
    Publication type:
    Article
    25

    A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.

    Published in:
    Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 103, doi. 10.1159/000442904
    By:
    • Malan, Valérie;
    • Lapierre, Jean-Michel;
    • Egloff, Matthieu;
    • Goidin, Didier;
    • Beaujard, Marie-Paule;
    • Maurin, Marie-Laure;
    • attié-Bitach, Tania;
    • Bessières, Bettina;
    • Bernard, Jean-Pierre;
    • Roth, Philippe;
    • Stirnemann, Julien;
    • Salomon, Laurent;
    • Romana, Serge;
    • Vekemans, Michel;
    • Ville, Yves;
    • Turleau, Catherine
    Publication type:
    Article
    26

    Array-CGH predicts prognosis in plasma cell post-transplantation lymphoproliferative disorders.

    Published in:
    Genes, Chromosomes & Cancer, 2017, v. 56, n. 3, p. 221, doi. 10.1002/gcc.22428
    By:
    • Sarkozy, Clémentine;
    • Kaltenbach, Sophie;
    • Faurie, Pierre;
    • Canioni, Danielle;
    • Berger, Françoise;
    • Traverse‐Glehen, Alexandra;
    • Ghesquieres, Hervé;
    • Salles, Gilles;
    • Bachy, Emmanuel;
    • Alyanakian, Marie‐Alexandra;
    • Hermine, Olivier;
    • Neven, Bénédicte;
    • Macintyre, Elizabeth;
    • Romana, Serge;
    • Molina, Thierry Jo;
    • Suarez, Felipe;
    • Asnafi, Vahid;
    • Bruneau, Julie
    Publication type:
    Article
    27
    28
    29

    Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.

    Published in:
    Prenatal Diagnosis, 2000, v. 20, n. 6, p. 511, doi. 10.1002/1097-0223(200006)20:6<511::AID-PD849>3.0.CO;2-B
    By:
    • Fert-Ferrer, Sandra;
    • Guichet, Agnès;
    • Tantau, Julia;
    • Lise Delezoide, Anne;
    • Ozilou, Catherine;
    • Pierrick Romana, Serge;
    • Gosset, Philippe;
    • Viot, Géraldine;
    • Loison, Stéphane;
    • Moraine, Claude;
    • Morichon-Delvallez, Nicole;
    • Turleau, Catherine;
    • Vekemans, Michel;
    • Prieur, Marguerite
    Publication type:
    Article
    30

    Stable and Functional Lymphoid Reconstitution in Artemis-deficient Mice Following Lentiviral Artemis Gene Transfer Into Hematopoietic Stem Cells.

    Published in:
    Molecular Therapy, 2008, v. 16, n. 8, p. 1490, doi. 10.1038/mt.2008.118
    By:
    • Benjelloun, Fatine;
    • Garrigue, Alexandrine;
    • Demerens-de Chappedelaine, Corinne;
    • Soulas-Sprauel, Pauline;
    • Malassis-Séris, Michele;
    • Stockholm, Daniel;
    • Hauer, Julia;
    • Blondeau, Johanna;
    • Rivière, Julie;
    • Lim, Annick;
    • Le Lorc'h, Marc;
    • Romana, Serge;
    • Brousse, Nicole;
    • Pâques, Frederique;
    • Galy, Anne;
    • Charneau, Pierre;
    • Fischer, Alain;
    • de Villartay, Jean-Pierre;
    • Cavazzana-Calvo, Marina
    Publication type:
    Article
    31
    32
    33
    34

    Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

    Published in:
    2017
    By:
    • Reggiani, Claudio;
    • Coppens, Sandra;
    • Sekhara, Tayeb;
    • Dimov, Ivan;
    • Pichon, Bruno;
    • Lufin, Nicolas;
    • Addor, Marie-Claude;
    • Belligni, Elga Fabia;
    • Digilio, Maria Cristina;
    • Faletra, Flavio;
    • Ferrero, Giovanni Battista;
    • Gerard, Marion;
    • Isidor, Bertrand;
    • Joss, Shelagh;
    • Niel-Bütschi, Florence;
    • Perrone, Maria Dolores;
    • Petit, Florence;
    • Renieri, Alessandra;
    • Romana, Serge;
    • Topa, Alexandra
    Publication type:
    Case Study
    35

    Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection.

    Published in:
    2015
    By:
    • Lanternier, Fanny;
    • Barbati, Elisa;
    • Meinzer, Ulrich;
    • Luyan Liu;
    • Pedergnana, Vincent;
    • Migaud, Mélanie;
    • Héritier, Sébastien;
    • Chomton, Maryline;
    • Frémond, Marie-Louise;
    • Gonzales, Emmanuel;
    • Galeotti, Caroline;
    • Romana, Serge;
    • Jacquemin, Emmanuel;
    • Angoulvant, Adela;
    • Bidault, Valeska;
    • Canioni, Danielle;
    • Lachenaud, Julie;
    • Mansouri, Davood;
    • Mahdaviani, Seyed Alireza;
    • Adimi, Parvaneh
    Publication type:
    Case Study
    36

    Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.

    Published in:
    Human Genetics, 2025, v. 144, n. 4, p. 433, doi. 10.1007/s00439-025-02730-4
    By:
    • Serey-Gaut, Margaux;
    • Balogoun, Ralyath;
    • Jonard, Laurence;
    • Lina-Granade, Geneviève;
    • Touraine, Renaud;
    • Willems, Marjolaine;
    • Hepp, Nicola;
    • Rendtorff, Nanna Dahl;
    • Bertelsen, Mette;
    • Loundon, Natalie;
    • Couloigner, Vincent;
    • Lemiere, Isabelle;
    • de Oliveira, Judite;
    • Romana, Serge;
    • Porteret, Camille;
    • Blanc, Pierre;
    • Mansard, Luke;
    • Marlin, Sandrine;
    • Roux, Anne-Françoise;
    • Pingault, Véronique
    Publication type:
    Article