3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances

por Iourov, Ivan Y., Vorsanova, Svetlana G., Voinova, Victoria Y., Yurov, Yuri B.
Publicado 2015

Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease

por Iourov, Ivan Y, Vorsanova, Svetlana G, Voinova, Victoria Y, Kurinnaia, Oxana S, Zelenova, Maria A, Demidova, Irina A, Yurov, Yuri B
Publicado 2013

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

por Giugliani, Roberto, Vieira, Taiane Alves, Carvalho, Clarissa Gutierrez, Muñoz-Rojas, Maria-Veronica, Semyachkina, Alla N., Voinova, Victoria Y., Richards, Susan, Cox, Gerald F., Xue, Yong
Publicado 2017

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population

por Glotov, Oleg S., Savostyanov, Kirill V., Nagornova, Tatyana S., Chernov, Alexandr N., Fedyakov, Mikhail A., Raspopova, Aleksandra N., Krasnoukhov, Konstantin N., Danilov, Lavrentii G., Moiseeva, Nadegda V., Kalinin, Roman S., Tsai, Victoria V., Eismont, Yuri A., Voinova, Victoria Y., Vitebskaya, Alisa V., Gurkina, Elena Y., Kuzenkova, Ludmila M., Sosnina, Irina B., Pushkov, Alexander A., Zhanin, Ilya S., Zakharova, Ekaterina Y.
Publicado 2022

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

por van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry
Publicado 2022