Costello syndrome.

por Philip, N, Sigaudy, S
Publicado em 1998

Is the locus for Costello syndrome on 11p?

por Kerr, B, Mucchielli, M, Sigaudy, S, Fabre, M, Saunier, P, Voelckel, M, Howard, E, Elles, R, Eden, T, Black, G, Philip, N
Publicado em 2003

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

por Imhoff, Olivier, Marion, Vincent, Stoetzel, Corinne, Durand, Myriam, Holder, Muriel, Sigaudy, Sabine, Sarda, Pierre, Hamel, Christian P., Brandt, Christian, Dollfus, Hélène, Moulin, Bruno
Publicado em 2011

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

por Bárcena, Clea, Quesada, Víctor, De Sandre-Giovannoli, Annachiara, Puente, Diana A, Fernández-Toral, Joaquín, Sigaudy, Sabine, Baban, Anwar, Lévy, Nicolas, Velasco, Gloria, López-Otín, Carlos
Publicado em 2014

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

por Lo Cicero, Alessandra, Saidani, Manoubia, Allouche, Jennifer, Egesipe, Anne Laure, Hoch, Lucile, Bruge, Celine, Sigaudy, Sabine, De Sandre-Giovannoli, Annachiara, Levy, Nicolas, Baldeschi, Christine, Nissan, Xavier
Publicado no Sci Rep (2018)

Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France

por Suard, Cornélie, Flori, Audrey, Paoli, Florent, Loundou, Anderson, Fouilloux, Virginie, Sigaudy, Sabine, Michel, Fabrice, Antomarchi, Julie, Moceri, Pamela, Paquis-Flucklinger, Véronique, D’Ercole, Claude, Bretelle, Florence
Publicado no PLoS One (2020)

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)

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

por Huber, Céline, Wu, Sulin, Kim, Ashley S., Sigaudy, Sabine, Sarukhanov, Anna, Serre, Valérie, Baujat, Genevieve, Le Quan Sang, Kim-Hanh, Rimoin, David L., Cohn, Daniel H., Munnich, Arnold, Krakow, Deborah, Cormier-Daire, Valérie
Publicado em 2013

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

por Aubert-Mucca, Marion, Pernin-Grandjean, Julie, Marchasson, Sébastien, Gaston, Veronique, Habib, Christophe, Meunier, Isabelle, Sigaudy, Sabine, Kaplan, Josseline, Roche, Olivier, Denis, Danièle, Bitoun, Pierre, Haye, Damien, Verloes, Alain, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Publicado no Eur J Hum Genet (2020)

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

por Cognet, Marie, Nougayrede, Agnés, Malan, Valérie, Callier, Patrick, Cretolle, Celia, Faivre, Laurence, Genevieve, David, Goldenberg, Alice, Heron, Delphine, Mercier, Sandra, Philip, Nicole, Sigaudy, Sabine, Verloes, Alain, Sarnacki, Sabine, Munnich, Arnold, Vekemans, Michel, Lyonnet, Stanislas, Etchevers, Heather, Amiel, Jeanne, Pontual, Loïc de
Publicado em 2011

Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

por Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène
Publicado em 2007

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

por Barthélémy, Florian, Navarro, Claire, Fayek, Racha, Da Silva, Nathalie, Roll, Patrice, Sigaudy, Sabine, Oshima, Junko, Bonne, Gisèle, Papadopoulou-Legbelou, Kyriaki, Evangeliou, Athanasios E, Spilioti, Martha, Lemerrer, Martine, Wevers, Ron A, Morava, Eva, Robaglia-Schlupp, Andrée, Lévy, Nicolas, Bartoli, Marc, De Sandre-Giovannoli, Annachiara
Publicado no Eur J Hum Genet (2015)

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

por Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Publicado no Orphanet J Rare Dis (2019)

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

por Dagoneau, Nathalie, Scheffer, Deborah, Huber, Céline, Al-Gazali, Lihadh I., Di Rocco, Maja, Godard, Anne, Martinovic, Jelena, Raas-Rothschild, Annick, Sigaudy, Sabine, Unger, Sheila, Nicole, Sophie, Fontaine, Bertrand, Taupin, Jean-Luc, Moreau, Jean-François, Superti-Furga, Andrea, Le Merrer, Martine, Bonaventure, Jacky, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie
Publicado em 2004

Genotype‐phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

por Kerr, B, Delrue, M‐A, Sigaudy, S, Perveen, R, Marche, M, Burgelin, I, Stef, M, Tang, B, Eden, O B, O'Sullivan, J, De Sandre‐Giovannoli, A, Reardon, W, Brewer, C, Bennett, C, Quarell, O, M'Cann, E, Donnai, D, Stewart, F, Hennekam, R, Cavé, H, Verloes, A, Philip, N, Lacombe, D, Levy, N, Arveiler, B, Black, G
Publicado em 2006

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

por Muller, Jean, Stoetzel, C., Vincent, M. C., Leitch, C. C., Laurier, V., Danse, J. M., Hellé, S., Marion, V., Bennouna-Greene, V., Vicaire, S., Megarbane, A., Kaplan, J., Drouin-Garraud, V., Hamdani, M., Sigaudy, S., Francannet, C., Roume, J., Bitoun, P., Goldenberg, A., Philip, N., Odent, S., Green, J., Cossée, M., Davis, E. E., Katsanis, N., Bonneau, D., Verloes, A., Poch, O., Mandel, J. L., Dollfus, H.
Publicado em 2010

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

por Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie
Publicado no PLoS Genet (2016)

Schimke immunoosseous dysplasia: defining skeletal features

por Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, Boerkoel, Cornelius F.
Publicado em 2009

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

por Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre
Publicado no Am J Hum Genet (2018)

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

por Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
Publicado em 2011