Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
Rio, M, Royer, G, Gobin, S, de Blois, MC, Ozilou, C, Bernheim, A, Nizon, M, Munnich, A, Bonnefont, J-P, Romana, S, Vekemans, M, Turleau, C, Malan, V
Published in Clinical genetics (01.07.2013)
Published in Clinical genetics (01.07.2013)
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Sanlaville, D, Etchevers, H C, Gonzales, M, Martinovic, J, Clément-Ziza, M, Delezoide, A-L, Aubry, M-C, Pelet, A, Chemouny, S, Cruaud, C, Audollent, S, Esculpavit, C, Goudefroye, G, Ozilou, C, Fredouille, C, Joye, N, Morichon-Delvallez, N, Dumez, Y, Weissenbach, J, Munnich, A, Amiel, J, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Attié-Bitach, T
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Paternal deletion of the GNAS imprinted locus (including ) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties
GENEVIEVE, David, SANLAVILLE, Damien, MUNNICH, Arnold, ROMANA, Serge, RAOUL, Odile, CORMIER-DAIRE, Valérie, VEKEMANS, Michel, FAIVRE, Laurence, KOTTLER, Marie-Laure, JAMBOU, Marguerite, GOSSET, Philippe, BOUSTANI-SAMARA, Dinane, PINTO, Graziella, OZILOU, Catherine, ABEGUILE, Geneviève
Published in European journal of human genetics : EJHG (01.09.2005)
Published in European journal of human genetics : EJHG (01.09.2005)
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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
Rio, M, Molinari, F, Heuertz, S, Ozilou, C, Gosset, P, Raoul, O, Cormier-Daire, V, Amiel, J, Lyonnet, S, Le Merrer, M, Turleau, C, de Blois, M-C, Prieur, M, Romana, S, Vekemans, M, Munnich, A, Colleaux, L
Published in Journal of medical genetics (01.04.2002)
Published in Journal of medical genetics (01.04.2002)
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Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype
Joly, G, Lapierre, J-M, Ozilou, C, Gosset, P, Aurias, A, De Blois, M-C, Prieur, M, Raoul, O, Colleaux, L, Munnich, A, Romana, SP, Vekemans, M, Turleau, C
Published in Clinical genetics (01.09.2001)
Published in Clinical genetics (01.09.2001)
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A CGH study of 27 patients with CHARGE association
Sanlaville, D, Romana, SP, Lapierre, JM, Amiel, J, Genevieve, D, Ozilou, C, Le Lorch, M, Brisset, S, Gosset, P, Baumann, C, Turleau, C, Lyonnet, S, Vekemans, M
Published in Clinical genetics (01.02.2002)
Published in Clinical genetics (01.02.2002)
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Journal Article
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation
RIO, Marlène, OZILOU, Catherine, CORMIER-DAIRE, Valérie, TURLEAU, Catherine, PRIEUR, Marguerite, VEKEMANS, Michel, CHAUVEAU, Pierre, MUNNICH, Arnold, COLLEAUX, Laurence
Published in Human genetics (01.06.2001)
Published in Human genetics (01.06.2001)
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Journal Article
Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome
Baala, Lekbir, Audollent, Sophie, Martinovic, Jéléna, Ozilou, Catherine, Babron, Marie-Claude, Sivanandamoorthy, Sivanthiny, Saunier, Sophie, Salomon, Rémi, Gonzales, Marie, Rattenberry, Eleanor, Esculpavit, Chantal, Toutain, Annick, Moraine, Claude, Parent, Philippe, Marcorelles, Pascale, Dauge, Marie-Christine, Roume, Joëlle, Merrer, Martine Le, Meiner, Vardiella, Meir, Karen, Menez, Françoise, Beaufrère, Anne-Marie, Francannet, Christine, Tantau, Julia, Sinico, Martine, Dumez, Yves, MacDonald, Fiona, Munnich, Arnold, Lyonnet, Stanislas, Gubler, Marie-Claire, Génin, Emmanuelle, Johnson, Colin A., Vekemans, Michel, Encha-Razavi, Férechté, Attié-Bitach, Tania
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Journal Article
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome
Baala, Lekbir, Romano, Stéphane, Khaddour, Rana, Saunier, Sophie, Smith, Ursula M., Audollent, Sophie, Ozilou, Catherine, Faivre, Laurence, Laurent, Nicole, Foliguet, Bernard, Munnich, Arnold, Lyonnet, Stanislas, Salomon, Rémi, Encha-Razavi, Férechté, Gubler, Marie-Claire, Boddaert, Nathalie, de Lonlay, Pascale, Johnson, Colin A., Vekemans, Michel, Antignac, Corinne, Attié-Bitach, Tania
Published in American journal of human genetics (01.01.2007)
Published in American journal of human genetics (01.01.2007)
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Journal Article
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome
Karmous-Benailly, Houda, Martinovic, Jelena, Gubler, Marie-Claire, Sirot, Yoann, Clech, Laure, Ozilou, Catherine, Augé, Joëlle, Brahimi, Nora, Etchevers, Heather, Detrait, Eric, Esculpavit, Chantal, Audollent, Sophie, Goudefroye, Géraldine, Gonzales, Marie, Tantau, Julia, Loget, Philippe, Joubert, Madeleine, Gaillard, Dominique, Jeanne-Pasquier, Corinne, Delezoide, Anne-Lise, Peter, Marie-Odile, Plessis, Ghislaine, Simon-Bouy, Brigitte, Dollfus, Hélène, Le Merrer, Martine, Munnich, Arnold, Encha-Razavi, Férechté, Vekemans, Michel, Attié-Bitach, Tania
Published in American journal of human genetics (01.03.2005)
Published in American journal of human genetics (01.03.2005)
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Journal Article
Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature
Brisset, S, Joly, G, Ozilou, C, Lapierre, J-M, Gosset, Ph, LeLorc'h, M, Raoul, O, Turleau, C, Vekemans, M, Romana, S P
Published in American journal of medical genetics (15.12.2002)
Published in American journal of medical genetics (15.12.2002)
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Journal Article
Functional disomy of the Xq28 chromosome region
SANLAVILLE, Damien, PRIEUR, Marguerite, CORMIER-DAIRE, Valerie, BAUJAT, Genevieve, ROMANA, Serge, VEKEMANS, Michel, TURLEAU, Catherine, DE BLOIS, Marie-Christine, GENEVIEVE, David, LAPIERRE, Jean-Michel, OZILOU, Catherine, PICQ, Monique, GOSSET, Philippe, MORICHON-DELVALLEZ, Nicole, MUNNICH, Arnold
Published in European journal of human genetics : EJHG (01.05.2005)
Published in European journal of human genetics : EJHG (01.05.2005)
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Journal Article
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation
Colleaux, L, Rio, M, Heuertz, S, Moindrault, S, Turleau, C, Ozilou, C, Gosset, P, Raoult, O, Lyonnet, S, Cormier-Daire, V, Amiel, J, Le Merrer, M, Picq, M, de Blois, M C, Prieur, M, Romana, S, Cornelis, F, Vekemans, M, Munnich, A
Published in European journal of human genetics : EJHG (01.05.2001)
Published in European journal of human genetics : EJHG (01.05.2001)
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Journal Article
A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances
Lapierre, J-M, Sanlaville, D, Kang, J, Ozilou, C, Le Lorc'h, M, Waill, M-C, Prieur, M, Colleaux, L, Munnich, A, Turleau, C, Benkhalifa, M, Mohammed, M, Vekemans, M, Romana, S
Published in Annales de biologie clinique (Paris) (01.03.2004)
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Published in Annales de biologie clinique (Paris) (01.03.2004)
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Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features
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
Published in Prenatal diagnosis (01.06.2000)
Published in Prenatal diagnosis (01.06.2000)
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Apport de la cytogénétique moléculaire au diagnostic des anomalies chromosomiques constitutionnelles
PIERRICK ROMANA, Serge, GOSSET, Philippe, ELGHEZAL, Hatem, LE LORC'H, Marc, OZILOU, Catherine, LAPIERRE, Jean-Michel, SANLAVILLE, Damien, BRISSET, Sophie, TURLEAU, Cathenne, VEKEMANS, Michel
Published in Médecine thérapeutique pédiatrie (2001)
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Published in Médecine thérapeutique pédiatrie (2001)
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Value of molecular cytogenetics in pre- and postnatal diagnostic of chromosome abnormalities
Romana, S P, Gosset, P, Elghezal, H, Le Lorc'h, M, Ozilou, C, Lapierre, J M, Sanlaville, D, Brisset, S, Turleau, C, Vekemans, M
Published in Journal de gynécologie, obstétrique et biologie de la reproduction (01.02.2001)
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Published in Journal de gynécologie, obstétrique et biologie de la reproduction (01.02.2001)
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