A 22q13.1 duplication in mosaicism including SOX10 von Bertani-Torres, William, Serey-Gaut, Margaux, de Oliveira, Judite, Bole, Christine, Parisot, Mélanie, Nistschké, Patrick, Maurin, Marie-Laure, Lapierre, Jean-Michel, Loundon, Natalie, Belhous, Kahina, Bondurand, Nadège, Marlin, Sandrine, Pingault, Véronique

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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review von Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, Marlin, Sandrine

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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature von Nizon, Mathilde, Andrieux, Joris, Rooryck, Caroline, de Blois, Marie-Christine, Bourel-Ponchel, Emilie, Bourgois, Béatrice, Boute, Odile, David, Albert, Delobel, Bruno, Duban-Bedu, Bénédicte, Giuliano, Fabienne, Goldenberg, Alice, Grotto, Sarah, Héron, Delphine, Karmous-Benailly, Houda, Keren, Boris, Lacombe, Didier, Lapierre, Jean-Michel, Le Caignec, Cédric, Le Galloudec, Eric, Le Merrer, Martine, Le Moing, Anne-Gaëlle, Mathieu-Dramard, Michèle, Nusbaum, Sylvie, Pichon, Olivier, Pinson, Lucile, Raoul, Odile, Rio, Marlène, Romana, Serge, Roubertie, Agnès, Colleaux, Laurence, Turleau, Catherine, Vekemans, Michel, Nabbout, Rima, Malan, Valérie

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Functional disomy of the Xq28 chromosome region von 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

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Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11 von Romana, Serge, Radford-Weiss, Isabelle, Lapierre, Jean-Michel, Doye, Valérie, Geoffroy, Marie-Claude

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

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A fertilin-derived peptide improves in vitro maturation and ploidy of human oocytes von Sallem, Amira, Denizot, Anne-Lyse, Ziyyat, Ahmed, L’Hostis, Audrey, Favier, Sophie, Burlet, Philippe, Lapierre, Jean-Michel, Dimby, Solohaja Faniaha, Patrat, Catherine, Sifer, Christophe, Vicaut, Eric, Steffann, Julie, Vaiman, Daniel, Romana, Serge Pierrick, Wolf, Jean-Philippe

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Cyclic fertilin-derived peptide stimulates in vitro human embryo development von Denizot, Anne-Lyse, L’Hostis, Audrey, Sallem, Amira, Favier, Sophie, Pierre, Rémi, Do Cruzeiro, Marcio, Guilbert, Thomas, Burlet, Philippe, Lapierre, Jean-Michel, Robain, Mathieu, Le Lorc’H, Marc, Vicaut, Eric, Chatzovoulou, Kalliopi, Steffann, Julie, Romana, Serge, Méhats, Céline, Santulli, Piétro, Patrat, Catherine, Vaiman, Daniel, Ziyyat, Ahmed, Wolf, Jean Philippe

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17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis von Egloff, Matthieu, Encha-Razavi, Ferechte, Garel, Catherine, Bonnière-Darcy, Maryse, Millischer, Anne-Elodie, Lapierre, Jean-Michel, Fontaine, Sophie, de Blois, Marie-Christine, Vekemans, Michel, Turleau, Catherine, Ville, Yves, Malan, Valérie

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Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study von Lapierre, Jean-Michel, Cacheux, Valère, Luton, Dominique, Collot, Nathalie, Oury, Jean-François, Aurias, Alain, Tachdjian, Gérard

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CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency von Brisset, Sophie, Romana, Serge, Texier, Isabelle, Lapierre, Jean-Michel, North, Marie-Odile, Vekemans, Michel, Morichon-Delvallez, Nicole

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Detection of chromosomal abnormalities by comparative genomic hybridization von Lapierre, Jean-Michel, Tachdjian, Gérard

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Molecular karyotyping in human constitutional cytogenetics von Sanlaville, Damien, Lapierre, Jean-Michel, Turleau, Catherine, Coquin, Aurélie, Borck, Guntram, Colleaux, Laurence, Vekemans, Michel, Romana, Serge Pierrick

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Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11 von Romana, Serge, Radford-Weiss, Isabelle, Lapierre, Jean-Michel, Doye, Valérie, Geoffroy, Marie-Claude

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Functional disomy of the Xq28 chromosome region: Cytogenetics von 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

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From chromosomes to molecular karyotyping : Molecular karyotyping in human constitutional cytogenetics von SANLAVILLE, Damien, LAPIERRE, Jean-Michel, TURLEAU, Catherine, COQUIN, Aurélie, BORCK, Guntram, COLLEAUX, Laurence, VEKEMANS, Michel, ROMANA, Serge Pierrick

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A 22q13.1 duplication in mosaicism including SOX10 von Bertani-Torres, William, Serey-Gaut, Margaux, de Oliveira, Judite, Bole, Christine, Parisot, Mélanie, Nistschké, Patrick, Maurin, Marie-Laure, Lapierre, Jean-Michel, Loundon, Natalie, Belhous, Kahina, Bondurand, Nadège, Marlin, Sandrine, Pingault, Véronique

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Altered Patterns of DNA Methylation on Chromosomes from Leukemia Cell Lines: Identification of 5-Methylcytosines by Indirect Immunodetection von Bensaada, Mustapha, Kiefer, Héléne, Tachdjian, Gérard, Lapierre, Jean Michel, Cacheux, Valère, Niveleau, Alain, Métézeau, Philippe

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Localization of the CDKN4/p27Kip1 gene to human chromosome 12p12.3 von MARTIN, E, CACHEUX, V, CAVE, H, LAPIERRE, J. M, LE PASLIER, D, GRANDCHAMP, B

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Large duplication 4q25–q34 with mild clinical effect von Elghezal, Hatem, Sendi, Halima Sennana, Monastiri, Kamel, Lapierre, Jean Michel, Romdhane, Samira Ibala, Mougou, Soumaya, Saad, Ali

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