Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report

por Bravo-Gil, Nereida, Marcos, Irene, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Publicado 2019

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

por Fernández, Raquel M, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Publicado 2010

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

por Sánchez, Javier, Peciña, Ana, Alonso-Luengo, Olga, González-Meneses, Antonio, Vázquez, Rocío, Antiñolo, Guillermo, Borrego, Salud
Publicado 2014

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

por Gónzalez-Meneses, Antonio, Pineda, Mercè, Bandeira, Anabela, Janeiro, Patrícia, Ruiz, María Ángeles, Diogo, Luisa, Cancho-Candela, Ramón
Publicado 2021

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

por González-Gutiérrez-Solana, Luis, Guillén-Navarro, Encarnación, del Toro, Mireia, Dalmau, Jaime, González-Meneses, Antonio, Couce, María L.
Publicado 2018

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

por Fernández, Raquel María, Mathieu, Yves, Luzón-Toro, Berta, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Amiel, Jeanne, Borrego, Salud
Publicado 2013

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

por Mondéjar, Rufino, Solano, Francisca, Rubio, Rocío, Delgado, Mercedes, Pérez-Sempere, Ángel, González-Meneses, Antonio, Vendrell, Teresa, Izquierdo, Guillermo, Martinez-Mir, Amalia, Lucas, Miguel
Publicado 2014

Lacosamide intake during pregnancy increases the incidence of foetal malformations and symptoms associated with schizophrenia in the offspring of mice

por López-Escobar, Beatriz, Fernández-Torres, Rut, Vargas-López, Viviana, Villar-Navarro, Mercedes, Rybkina, Tatyana, Rivas-Infante, Eloy, Hernández-Viñas, Ayleen, Álvarez del Vayo, Concepción, Caro-Vega, José, Sánchez-Alcázar, José A., González-Meneses, Antonio, Carrión, M. Ángel, Ybot-González, Patricia
Publicado 2020

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

por Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
Publicado 2016

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

por Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth
Publicado 2017