ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

por Awamleh, Zain, Choufani, Sanaa, Cytrynbaum, Cheryl, Alkuraya, Fowzan S, Scherer, Stephen, Fernandes, Sofia, Rosas, Catarina, Louro, Pedro, Dias, Patricia, Neves, Mariana Tomásio, Sousa, Sérgio B, Weksberg, Rosanna
Publicado 2022

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

por Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel
Publicado 2018

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

por Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Alves, Inês, Bengoa, Joana, Ben-Omran, Tawfeg, Boero, Silvio, Fredwall, Svein, Garel, Catherine, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Sousa, Sérgio B., Mohnike, Klaus
Publicado 2022

Optimising care and follow-up of adults with achondroplasia

por Fredwall, Svein, Allum, Yana, AlSayed, Moeenaldeen, Alves, Inês, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valerie, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B., Wright, Michael
Publicado 2022

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

por Irving, Melita, AlSayed, Moeenaldeen, Arundel, Paul, Baujat, Geneviève, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valérie, Fredwall, Svein, Guillen-Navarro, Encarna, Hoyer-Kuhn, Heike, Kunkel, Philip, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B.
Publicado 2023

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

por Peter, Virginie G., Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B., Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D., Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C., Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda
Publicado 2019

THU156 Significantly Improved Annual Height Velocity With Once-Weekly TransCon CNP In Children With Achondroplasia: The ACcomplisH Phase 2, Randomized, Double-Blind, Placebo-Contro...

por Savarirayan, Ravi, McDonnell, Ciara, Hoernschemeyer, Daniel G, Hove, Hanne B, Zarate, Yuri A, Bober, Michael B, Bacino, Carlos A, Legare, Janet M, Högler, Wolfgang, Quattrin, Teresa, Abuzzahab, M Jennifer, Hofman, Paul L, White, Klane K, Ma, Nina, Schnabel, Dirk, Sousa, Sérgio B, Fan, Xiaolin, Chakraborty, Mukta, Giwa, Adebola, Smith, Sharon E, Volck, Birgitte, Shu, Aimee D
Publicado 2023

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial

por Savarirayan, Ravi, Hoernschemeyer, Daniel G., Ljungberg, Merete, Zarate, Yuri A., Bacino, Carlos A., Bober, Michael B., Legare, Janet M., Högler, Wolfgang, Quattrin, Teresa, Abuzzahab, M. Jennifer, Hofman, Paul L., White, Klane K., Ma, Nina S., Schnabel, Dirk, Sousa, Sérgio B., Mao, Meng, Smith, Alden, Chakraborty, Mukta, Giwa, Adebola, Winding, Bent, Volck, Birgitte, Shu, Aimee D., McDonnell, Ciara
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

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2011

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado 2018