A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data

by Maria López, Virginia Pérez‐Grijalba, Inmaculada García‐Cobaleda, Elena Domínguez‐Garrido
Published 2020-12-01

Identifying extended psychosis phenotypes at school: Associations with socio-emotional adjustment, academic, and neurocognitive outcomes.

by Beatriz Lucas-Molina, Alicia Pérez-Albéniz, Encar Satorres, Javier Ortuño-Sierra, Elena Domínguez Garrido, Eduardo Fonseca-Pedrero
Published 2020-01-01

Education and information needs for physicians about rare diseases in Spain

by Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero, Josefa Gil-de-Gómez
Published 2020-01-01

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

by María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
Published 2018-03-01

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

by Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Published 2019-11-01

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

by Margherita Baldassarri, Nicola Picchiotti, Francesca Fava, Chiara Fallerini, Elisa Benetti, Sergio Daga, Floriana Valentino, Gabriella Doddato, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Susanna Croci, Ilaria Meloni, Anna Maria Pinto, Nicola Iuso, Chiara Gabbi, Francesca Sciarra, Mary Anna Venneri, Marco Gori, Maurizio Sanarico, Francis P. Crawley, Uberto Pagotto, Flaminia Fanelli, Marco Mezzullo, Elena Dominguez-Garrido, Laura Planas-Serra, Agatha Schlüter, Roger Colobran, Pere Soler-Palacin, Pablo Lapunzina, Jair Tenorio, Aurora Pujol, Maria Grazia Castagna, Marco Marcelli, Andrea M. Isidori, Alessandra Renieri, Elisa Frullanti, Francesca Mari
Published 2021-03-01