Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

por Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T., Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S., Kurdi, Wesam I.Y., Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S., Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S., Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H.
Publicado 2020

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B., Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Publicado 2022

PSAT106 Infigratinib in Children with Achondroplasia: Design of the PROPEL, PROPEL2 and PROPEL OLE Studies

por Muslimova, Elena, De Bergua, Josep Maria, Savarirayan, Ravi, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Pierre Salles, Jean, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B, Phillips III, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Publicado 2022

OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding St...

por Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, Salles, Jean Pierre, Saraff, Vrinda, Delgado, Borja, Leiva-Gea, Antonio, McDevitt, Helen, Nicolino, Marc P, Rossi, Massimiliano, Salcedo, Maria, Cormier-Daire, Valerie, Skae, Mars, Kannu, Peter, Bober, Michael B, Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine Pamela, Candler, Toby, Cho, Terry, Muslimova, Elena, Weng, Richard, Raj, Supriya, Hoover-Fong, Julie, Irving, Melita, Rogoff, Daniela
Publicado 2023

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

por Bowen, Margot E., Boyden, Eric D., Holm, Ingrid A., Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Ikegawa, Shiro, Cormier-Daire, Valerie, Bovée, Judith V., Pansuriya, Twinkal C., de Sousa, Sérgio B., Savarirayan, Ravi, Andreucci, Elena, Vikkula, Miikka, Garavelli, Livia, Pottinger, Caroline, Ogino, Toshihiko, Sakai, Akinori, Regazzoni, Bianca M., Wuyts, Wim, Sangiorgi, Luca, Pedrini, Elena, Zhu, Mei, Kozakewich, Harry P., Kasser, James R., Seidman, Jon G., Kurek, Kyle C., Warman, Matthew L.
Publicado 2011

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

por Nizon, Mathilde, Huber, Céline, De Leonardis, Fabio, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y, Alanay, Yasemin, Albrecht, Beate, Al-Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T, Koparir, Erkan, van Maarle, Merel C, MacKay, Sara, Mortier, Geert, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian, Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie
Publicado 2012

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

por Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M., Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M., Witman, George B.
Publicado 2015

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

por Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R., Mans, Dorus A., Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Taylor, S. Paige, Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M., Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M., Witman, George B.
Publicado 2016

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

por Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo
Publicado 2023

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

por Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valérie, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P
Publicado 2014

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

por de Beaucoudrey, Ludovic, Puel, Anne, Filipe-Santos, Orchidée, Cobat, Aurélie, Ghandil, Pegah, Chrabieh, Maya, Feinberg, Jacqueline, von Bernuth, Horst, Samarina, Arina, Jannière, Lucile, Fieschi, Claire, Stéphan, Jean-Louis, Boileau, Catherine, Lyonnet, Stanislas, Jondeau, Guillaume, Cormier-Daire, Valérie, Le Merrer, Martine, Hoarau, Cyrille, Lebranchu, Yvon, Lortholary, Olivier, Chandesris, Marie-Olivia, Tron, François, Gambineri, Eleonora, Bianchi, Lucia, Rodriguez-Gallego, Carlos, Zitnik, Simona E., Vasconcelos, Julia, Guedes, Margarida, Vitor, Artur Bonito, Marodi, Laszlo, Chapel, Helen, Reid, Brenda, Roifman, Chaim, Nadal, David, Reichenbach, Janine, Caragol, Isabel, Garty, Ben-Zion, Dogu, Figen, Camcioglu, Yildiz, Gülle, Sanyie, Sanal, Ozden, Fischer, Alain, Abel, Laurent, Stockinger, Birgitta, Picard, Capucine, Casanova, Jean-Laurent
Publicado 2008

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

por Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G., Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T., Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M., Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I. Karen, Turnpenny, Peter, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Publicado 2018

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

por Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.
Publicado 2018

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

por Kreins, Alexandra Y., Ciancanelli, Michael J., Okada, Satoshi, Kong, Xiao-Fei, Ramírez-Alejo, Noé, Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Mahdaviani, Seyed Alireza, Ailal, Fatima, Bousfiha, Aziz, Mansouri, Davood, Nievas, Elma, Ma, Cindy S., Rao, Geetha, Bernasconi, Andrea, Sun Kuehn, Hye, Niemela, Julie, Stoddard, Jennifer, Deveau, Paul, Cobat, Aurelie, El Azbaoui, Safa, Sabri, Ayoub, Lim, Che Kang, Sundin, Mikael, Avery, Danielle T., Halwani, Rabih, Grant, Audrey V., Boisson, Bertrand, Bogunovic, Dusan, Itan, Yuval, Moncada-Velez, Marcela, Martinez-Barricarte, Ruben, Migaud, Melanie, Deswarte, Caroline, Alsina, Laia, Kotlarz, Daniel, Klein, Christoph, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Cormier-Daire, Valerie, Rose-John, Stefan, Picard, Capucine, Hammarstrom, Lennart, Puel, Anne, Al-Muhsen, Saleh, Abel, Laurent, Chaussabel, Damien, Rosenzweig, Sergio D., Minegishi, Yoshiyuki, Tangye, Stuart G., Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Publicado 2015

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

por Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D., Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A., McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L., Odel, Jeffrey, O’Regan, Grainne M., Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B., Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M., Khumalo, Nonhlanhla P., Mayosi, Bongani M., Barbarot, Sébastien, Bézieau, Stéphane
Publicado 2015

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

por Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Publicado 2017

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

por Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Publicado 2022

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022