Editorial for the Molecular Mechanisms in Neurodevelopmental Disorders Special Issue

por Madrigal, Irene
Publicado 2023

The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole

por Benítez, Leticia, Pauta, Montse, Badenas, Cèlia, Madrigal, Irene, Nadal, Alfons, Marimon, Edda, Borrell, Antoni
Publicado 2021

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

por Alvarez-Mora, Maria Isabel, Corominas, Jordi, Gilissen, Christian, Sanchez, Aurora, Madrigal, Irene, Rodriguez-Revenga, Laia
Publicado 2021

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

por Álvarez-Mora, María Isabel, Sánchez, Aurora, Rodríguez-Revenga, Laia, Corominas, Jordi, Rabionet, Raquel, Puig, Susana, Madrigal, Irene
Publicado 2022

Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

por To‐Figueras, Jordi, Titos, Esther, Aguilera, Paula, Díaz, Alba, Muñoz‐Luque, Javier, Madrigal, Irene, Badenas, Celia, Torra, Mercè, Fondevila, Constantino, Colmenero, Jordi
Publicado 2022

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

por Gómez-Fernández, Nuria, Castellví-Bel, Sergi, Fernández-Rozadilla, Ceres, Balaguer, Francesc, Muñoz, Jenifer, Madrigal, Irene, Milà, Montserrat, Graña, Begoña, Vega, Ana, Castells, Antoni, Carracedo, Ángel, Ruiz-Ponte, Clara
Publicado 2009

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

por Elias-Mas, Andrea, Potrony, Miriam, Bague, Jaume, Cutler, David J., Alvarez-Mora, Maria Isabel, Torres, Teresa, Barcos, Tamara, Puig-Butille, Joan Anton, Rubio, Marta, Madrigal, Irene, Puig, Susana, Allen, Emily G., Rodriguez-Revenga, Laia
Publicado 2023

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders

por Alvarez-Mora, María Isabel, Rodríguez-Revenga, Laia, Jodar, Meritxell, Potrony, Miriam, Sanchez, Aurora, Badenas, Celia, Oriola, Josep, Villanueva-Cañas, José Luis, Muñoz, Esteban, Valldeoriola, Francesc, Cámara, Ana, Compta, Yaroslau, Carreño, Mar, Martí, María Jose, Sánchez-Valle, Raquel, Madrigal, Irene
Publicado 2023

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

por Potrony, Miriam, Borrell, Antoni, Masoller, Narcís, Nadal, Alfons, Rodriguez-Carunchio, Leonardo, Saez de Gordoa Elizalde, Karmele, Quesada-Espinosa, Juan Francisco, Villanueva-Cañas, Jose Luis, Pauta, Montse, Jodar, Meritxell, Madrigal, Irene, Badenas, Celia, Alvarez-Mora, Maria Isabel, Rodriguez-Revenga, Laia
Publicado 2022

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

por Abekhoukh, Sabiha, Sahin, H. Bahar, Grossi, Mauro, Zongaro, Samantha, Maurin, Thomas, Madrigal, Irene, Kazue-Sugioka, Daniele, Raas-Rothschild, Annick, Doulazmi, Mohamed, Carrera, Pilar, Stachon, Andrea, Scherer, Steven, Drula Do Nascimento, Maria Rita, Trembleau, Alain, Arroyo, Ignacio, Szatmari, Peter, Smith, Isabel M., Milà, Montserrat, Smith, Adam C., Giangrande, Angela, Caillé, Isabelle, Bardoni, Barbara
Publicado 2017