Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2

Por Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege
Publicado em 2012

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

Por Aguilar, Andrea, Meunier, Alice, Strehl, Laetitia, Martinovic, Jelena, Bonniere, Maryse, Attie-Bitach, Tania, Encha-Razavi, Féréchté, Spassky, Nathalie
Publicado em 2012

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

Por Chafai-Elalaoui, Siham, Chalon, Matthias, Elkhartoufi, Nadia, Kriouele, Yamna, Mansouri, Maria, Attié-Bitach, Tania, Sefiani, Abdelaziz, Baala, Lekbir
Publicado no J Med Case Rep (2015)

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

Por Jean Marie Delalande, Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Tania Attié-Bitach, Tania Attié-Bitach, Stanislas Lyonnet, Stanislas Lyonnet, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Nikhil Thapar, Alan J. Burns, Alan J. Burns, Alan J. Burns
Publicado em 2021-12-01

Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

Por Jean Marie Delalande, Jean Marie Delalande, Nandor Nagy, Conor J. McCann, Dipa Natarajan, Julie E. Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Tania Attié-Bitach, Tania Attié-Bitach, Stanislas Lyonnet, Stanislas Lyonnet, Stanislas Lyonnet, Malcolm P. Logan, Allan M. Goldstein, Megan G. Davey, Robert M. W. Hofstra, Nikhil Thapar, Nikhil Thapar, Alan J. Burns, Alan J. Burns, Alan J. Burns
Publicado em 2022-04-01

Pitchfork Regulates Primary Cilia Dizsassembly and Left-Right Asymmetry

Por Kinzel, Doris, Boldt, Karsten, Davis, Erica E., Burtscher, Ingo, Trümbach, Dietrich, Diplas, Bill, Attié-Bitach, Tania, Wurst, Wolfgang, Katsanis, Nicholas, Ueffing, Marius, Lickert, Heiko
Publicado em 2010

Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development

Por Chauvet, Véronique, Qian, Feng, Boute, Nicolas, Cai, Yiqiang, Phakdeekitacharoen, Bunyong, Onuchic, Luis F., Attié-Bitach, Tania, Guicharnaud, Liliane, Devuyst, Olivier, Germino, Gregory G., Gubler, Marie-Claire
Publicado em 2002

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

Por Pinson, L, Auge, J, Audollent, S, Mattei, G, Etchevers, H, Gigarel, N, Razavi, F, Lacombe, D, Odent, S, Le Merrer, M, Amiel, J, Munnich, A, Meroni, G, Lyonnet, S, Vekemans, M, Attie-Bitach, T
Publicado em 2004

High throughput SNP and expression analyses of candidate genes for non‐syndromic oral clefts

Por Park, J W, Cai, J, McIntosh, I, Jabs, E W, Fallin, M D, Ingersoll, R, Hetmanski, J B, Vekemans, M, Attie‐Bitach, T, Lovett, M, Scott, A F, Beaty, T H
Publicado em 2006

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Por Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S
Publicado no Cilia (2015)

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Por Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence
Publicado em 2005

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Por Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C. 
Publicado em 2007

Genotype–phenotype correlation of 30 patients with Smith‐Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletion...

Por Andrieux, J, Villenet, C, Quief, S, Lignon, S, Geffroy, S, Roumier, C, de Leersnyder, H, de Blois, M‐C, Manouvrier, S, Delobel, B, Benzacken, B, Bitoun, P, Attie‐Bitach, T, Thomas, S, Lyonnet, S, Vekemans, M, Kerckaert, J‐P
Publicado em 2007

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH

Por Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie-Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco-Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
Publicado em 2009

Expanding CEP290 mutational spectrum in ciliopathies

Por Travaglini, Lorena, Brancati, Francesco, Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria
Publicado no Am J Med Genet A (2009)

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Por Thomas, Sophie, Cantagrel, Vincent, Mariani, Laura, Serre, Valérie, Lee, Ji-Eun, Elkhartoufi, Nadia, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Lyonnet, Stanislas, Vekemans, Michel, Lisgo, Steven N, Caspary, Tamara, Gleeson, Joseph, Attié-Bitach, Tania
Publicado no Eur J Hum Genet (2015)

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

Por Touraine, R L, Attié-Bitach, T, Manceau, E, Korsch, E, Sarda, P, Pingault, V, Encha-Razavi, F, Pelet, A, Augé, J, Nivelon-Chevallier, A, Holschneider, A M, Munnes, M, Doerfler, W, Goossens, M, Munnich, A, Vekemans, M, Lyonnet, S
Publicado em 2000

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Por Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 
Publicado em 2007

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Por Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel
Publicado em 2010

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Por Madariaga, Leire, Morinière, Vincent, Jeanpierre, Cécile, Bouvier, Raymonde, Loget, Philippe, Martinovic, Jelena, Dechelotte, Pierre, Leporrier, Nathalie, Thauvin-Robinet, Christel, Jensen, Uffe Birk, Gaillard, Dominique, Mathieu, Michele, Turlin, Bruno, Attie-Bitach, Tania, Salomon, Rémi, Gübler, Marie-Claire, Antignac, Corinne, Heidet, Laurence
Publicado em 2013