Update on oral-facial-digital syndromes (OFDS)

Por Franco, Brunella, Thauvin-Robinet, Christel
Publicado no Cilia (2016)

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa

Por Maubaret, Cécilia, Kosmaoglou, Maria, Low, Sancy, Chakarova, Christina F., Bidot, Samuel, Thauvin-Robinet, Christel, Robson, Anthony G., Waseem, Naushin, Cheetham, Michael E., Bhattacharya, Shomi S.
Publicado em 2012

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Por Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Publicado em 2014

A Major Determinant for Binding and Aminoacylation of tRNA(Ala) in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

Por Latour, Philippe, Thauvin-Robinet, Christel, Baudelet-Méry, Chantal, Soichot, Pierre, Cusin, Veronica, Faivre, Laurence, Locatelli, Marie-Claire, Mayençon, Martine, Sarcey, Annie, Broussolle, Emmanuel, Camu, William, David, Albert, Rousson, Robert
Publicado em 2010

NOTCH, a new signaling pathway implicated in holoprosencephaly

Por Dupé, Valérie, Rochard, Lucie, Mercier, Sandra, Le Pétillon, Yann, Gicquel, Isabelle, Bendavid, Claude, Bourrouillou, Georges, Kini, Usha, Thauvin-Robinet, Christel, Bohan, Timothy P., Odent, Sylvie, Dubourg, Christèle, David, Véronique
Publicado em 2011

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Por Nicolas, Gaël, Jacquin, Agnès, Thauvin-Robinet, Christel, Rovelet-Lecrux, Anne, Rouaud, Olivier, Pottier, Cyril, Aubriot-Lorton, Marie-Hélène, Rousseau, Stéphane, Wallon, David, Duvillard, Christian, Béjot, Yannick, Frébourg, Thierry, Giroud, Maurice, Campion, Dominique, Hannequin, Didier
Publicado em 2014

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

Por Desch, Laurent, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Eliade, Marie, Payet, Muriel, Ragon, Clemence, Thevenon, Julien, Aral, Bernard, Ragot, Sylviane, Ardalan, Azarnouche, Dhouibi, Nabila, Bensignor, Candace, Thauvin-Robinet, Christel, El Chehadeh, Salima, Callier, Patrick
Publicado no Mol Cytogenet (2015)

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

Por Writzl, Karin, Maver, Ales, Kovačič, Lidija, Martinez-Valero, Paula, Contreras, Laura, Satrustegui, Jorgina, Castori, Marco, Faivre, Laurence, Lapunzina, Pablo, van Kuilenburg, André B.P., Radović, Slobodanka, Thauvin-Robinet, Christel, Peterlin, Borut, del Arco, Araceli, Hennekam, Raoul C.
Publicado no Am J Hum Genet (2017)

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

Por Lhussiez, Vincent, Dubus, Elisabeth, Cesar, Quénol, Acar, Niyazi, Nandrot, Emeline F., Simonutti, Manuel, Audo, Isabelle, Lizé, Eléonore, Nguyen, Sylvie, Geissler, Audrey, Bouchot, André, Ansar, Muhammad, Picaud, Serge, Thauvin-Robinet, Christel, Olivier-Faivre, Laurence, Duplomb, Laurence, Da Costa, Romain
Publicado no Invest Ophthalmol Vis Sci (2020)

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Por El Chehadeh-Djebbar, Salima, Blair, Edward, Holder-Espinasse, Muriel, Moncla, Anne, Frances, Anne-Marie, Rio, Marlène, Debray, François-Guillaume, Rump, Patrick, Masurel-Paulet, Alice, Gigot, Nadège, Callier, Patrick, Duplomb, Laurence, Aral, Bernard, Huet, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence
Publicado em 2013

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

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Por Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado no Eur J Hum Genet (2019)

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Por Li, Chunmei, Jensen, Victor L., Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R., Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F., Blacque, Oliver E., Valente, Enza Maria, Leroux, Michel R.
Publicado no PLoS Biol (2016)

Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Por Thevenon, Julien, Duplomb, Laurence, Phadke, Shubha, Eguether, Thibaut, Saunier, Aline, Avila, Magali, Carmignac, Virginie, Bruel, Ange-Line, St-Onge, Judith, Duffourd, Yannis, Pazour, Gregory J., Franco, Brunella, Attie-Bitach, Tania, Masurel-Paulet, Alice, Rivière, Jean-Baptiste, Cormier-Daire, Valérie, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado no Clin Genet (2016)

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Por Thevenon, Julien, Callier, Patrick, Andrieux, Joris, Delobel, Bruno, David, Albert, Sukno, Sylvie, Minot, Delphine, Mosca Anne, Laure, Marle, Nathalie, Sanlaville, Damien, Bonnet, Marlène, Masurel-Paulet, Alice, Levy, Fabienne, Gaunt, Lorraine, Farrell, Sandra, Le Caignec, Cédric, Toutain, Annick, Carmignac, Virginie, Mugneret, Francine, Clayton-Smith, Jill, Thauvin-Robinet, Christel, Faivre, Laurence
Publicado em 2013

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Por Piton, Amélie, Poquet, Hélène, Redin, Claire, Masurel, Alice, Lauer, Julia, Muller, Jean, Thevenon, Julien, Herenger, Yvan, Chancenotte, Sophie, Bonnet, Marlène, Pinoit, Jean-Michel, Huet, Frédéric, Thauvin-Robinet, Christel, Jaeger, Anne-Sophie, Le Gras, Stéphanie, Jost, Bernard, Gérard, Bénédicte, Peoc'h, Katell, Launay, Jean-Marie, Faivre, Laurence, Mandel, Jean-Louis
Publicado em 2014

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Por Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Publicado em 2009

SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia

Por Marelli, Cecilia, van de Leemput, Joyce, Johnson, Janel O, Tison, Francois, Thauvin-Robinet, Christel, Picard, Fabienne, Tranchant, Christine, Hernandez, Dena G, Huttin, Bernard, Boulliat, Jacques, Sangla, Iban, Marescaux, Christian, Brique, Serge, Dollfus, Hélène, Arepalli, Sampath, Benatru, Isabelle, Ollagnon, Elisabeth, Forlani, Sylvie, Hardy, John, Stevanin, Giovanni, Dürr, Alexandra, Singleton, Andrew, Brice, Alexis
Publicado em 2011

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Por Thevenon, Julien, Souchay, Céline, Seabold, Gail K, Dygai-Cochet, Inna, Callier, Patrick, Gay, Sébastien, Corbin, Lucie, Duplomb, Laurence, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, El Chehadeh, Salima, Avila, Magali, Minot, Delphine, Guedj, Eric, Chancenotte, Sophie, Bonnet, Marlène, Lehalle, Daphne, Wang, Ya-Xian, Kuentz, Paul, Huet, Frédéric, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Petralia, Ronald S, Faivre, Laurence
Publicado no Eur J Hum Genet (2016)

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Por Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Publicado no Ann Clin Transl Neurol (2016)