Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome von 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

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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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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome von Nivet, Hubert, Vierkotten, Jeanette, Schneider-Maunoury, Sylvie, Champion, Gérard, Johnson, Colin A, Golzio, Christelle, Vesque, Christine, Niaudet, Patrick, Berthélémé, Jean Pierre, Lacoste, Tiphanie, Anselme, Isabelle, Baala, Lekbir, Gubler, Marie Claire, Antignac, Corinne, Gerhardt, Christoph, Martinovic, Jéléna, Attié-Bitach, Tania, Saunier, Sophie, Rüther, Ulrich, Encha-Razavi, Féréchté, Tory, Kàlmàn, Besse, Laurianne, Boddaert, Nathalie, Salomon, Rémi, Moutkine, Imane, Silbermann, Flora, Vekemans, Michel, Ozilou, Catherine, Laclef, Christine, Macher, Marie Alice, Gonzales, Marie, Delous, Marion, Hellman, Nathan E, Rattenberry, Eleanor, Hildebrandt, Friedhelm, McDonald, Fiona, Wolf, Matthias T F

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The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome von 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

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Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation von RIO, Marlène, OZILOU, Catherine, CORMIER-DAIRE, Valérie, TURLEAU, Catherine, PRIEUR, Marguerite, VEKEMANS, Michel, CHAUVEAU, Pierre, MUNNICH, Arnold, COLLEAUX, Laurence

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Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome von 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

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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 von 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

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online von Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A, Attié-Bitach, Tania

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

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Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy von Golzio, Christelle, Guirchoun, Jessica, Ozilou, Catherine, Thomas, Sophie, Goudefroye, Géraldine, Morichon-Delvallez, Nicole, Vekemans, Michel, Attié-Bitach, Tania, Etchevers, Heather C.

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation von Khaddour, Rana, Smith, Ursula, Baala, Lekbir, Martinovic, Jéléna, Clavering, Davina, Shaffiq, Rizwana, Ozilou, Catherine, Cullinane, Andrew, Kyttälä, Mira, Shalev, Stavit, Audollent, Sophie, d'Humières, Camille, Kadhom, Noman, Esculpavit, Chantal, Viot, Géraldine, Boone, Claire, Oien, Christine, Encha-Razavi, Férechté, Batman, Philip A, Bennett, Christopher P, Woods, C Geoffrey, Roume, Joelle, Lyonnet, Stanislas, Génin, Emmanuelle, Le Merrer, Martine, Munnich, Arnold, Gubler, Marie-Claire, Cox, Phillip, Macdonald, Fiona, Vekemans, Michel, Johnson, Colin A., Attié-Bitach, Tania

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

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Apport de la cytogénétique moléculaire au diagnostic des anomalies chromosomiques constitutionnelles von PIERRICK ROMANA, Serge, GOSSET, Philippe, ELGHEZAL, Hatem, LE LORC'H, Marc, OZILOU, Catherine, LAPIERRE, Jean-Michel, SANLAVILLE, Damien, BRISSET, Sophie, TURLEAU, Cathenne, VEKEMANS, Michel

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