Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

por Maya-González, Carolina, Wessman, Sandra, Lagerstedt-Robinson, Kristina, Taylan, Fulya, Tesi, Bianca, Kuchinskaya, Ekaterina, McCluggage, W. Glenn, Poluha, Anna, Holm, Stefan, Nergårdh, Ricard, Díaz De Ståhl, Teresita, Höybye, Charlotte, Tettamanti, Giorgio, Delgado-Vega, Angelica Maria, Skarin Nordenvall, Anna, Nordgren, Ann
Publicado 2023

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

por Fatima, Ambrin, Hoeber, Jan, Schuster, Jens, Koshimizu, Eriko, Maya-Gonzalez, Carolina, Keren, Boris, Mignot, Cyril, Akram, Talia, Ali, Zafar, Miyatake, Satoko, Tanigawa, Junpei, Koike, Takayoshi, Kato, Mitsuhiro, Murakami, Yoshiko, Abdullah, Uzma, Ali, Muhammad Akhtar, Fadoul, Rein, Laan, Loora, Castillejo-López, Casimiro, Liik, Maarika, Jin, Zhe, Birnir, Bryndis, Matsumoto, Naomichi, Baig, Shahid M., Klar, Joakim, Dahl, Niklas
Publicado 2021

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

por Fatima, Ambrin, Hoeber, Jan, Schuster, Jens, Koshimizu, Eriko, Maya-Gonzalez, Carolina, Keren, Boris, Mignot, Cyril, Akram, Talia, Ali, Zafar, Miyatake, Satoko, Tanigawa, Junpei, Koike, Takayoshi, Kato, Mitsuhiro, Murakami, Yoshiko, Abdullah, Uzma, Ali, Muhammad Akhtar, Fadoul, Rein, Laan, Loora, Castillejo-López, Casimiro, Liik, Maarika, Jin, Zhe, Birnir, Bryndis, Matsumoto, Naomichi, Baig, Shahid M., Klar, Joakim, Dahl, Niklas
Publicado 2022