Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
RODRIGUEZ-REVENGA, Laia, MADRIGAL, Irene, PAGONABARRAGA, Javier, XUNCLA, Mar, BADENAS, Celia, KULISEVSKY, Jaime, GOMEZ, Beatriz, MILA, Montserrat
Published in European journal of human genetics : EJHG (01.10.2009)
Published in European journal of human genetics : EJHG (01.10.2009)
Get full text
Journal Article
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
Álvarez-Mora, María Isabel, Sánchez, Aurora, Rodríguez-Revenga, Laia, Corominas, Jordi, Rabionet, Raquel, Puig, Susana, Madrigal, Irene
Published in Orphanet journal of rare diseases (19.02.2022)
Published in Orphanet journal of rare diseases (19.02.2022)
Get full text
Journal Article
Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome
Alvarez-Mora, Maria Isabel, Santos, Cristina, Carreño-Gago, Lidia, Madrigal, Irene, Tejada, Maria Isabel, Martinez, Francisco, Izquierdo-Alvarez, Silvia, Garcia-Arumi, Elena, Mila, Montserrat, Rodriguez-Revenga, Laia
Published in Mitochondrion (01.05.2020)
Published in Mitochondrion (01.05.2020)
Get full text
Journal Article
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome
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
Published in Frontiers in aging neuroscience (06.01.2023)
Published in Frontiers in aging neuroscience (06.01.2023)
Get full text
Journal Article
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes
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
Published in Disease models & mechanisms (01.04.2017)
Published in Disease models & mechanisms (01.04.2017)
Get full text
Journal Article
Transcriptomic study in explanted liver from a patient with acute intermittent porphyria
To‐Figueras, Jordi, Titos, Esther, Aguilera, Paula, Díaz, Alba, Muñoz‐Luque, Javier, Madrigal, Irene, Badenas, Celia, Torra, Mercè, Fondevila, Constantino, Colmenero, Jordi
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
Get full text
Journal Article
Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes
Mateu-Huertas, Elisabet, Rodriguez-Revenga, Laia, Alvarez-Mora, Maria Isabel, Madrigal, Irene, Willemsen, Rob, Milà, Montserrat, Martí, Eulàlia, Estivill, Xavier
Published in Neurobiology of disease (01.05.2014)
Published in Neurobiology of disease (01.05.2014)
Get full text
Journal Article
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
Gómez-Fernández, Nuria, Castellví-Bel, Sergi, Fernández-Rozadilla, Ceres, Balaguer, Francesc, Muñoz, Jenifer, Madrigal, Irene, Milà, Montserrat, Graña, Begoña, Vega, Ana, Castells, Antoni, Carracedo, Angel, Ruiz-Ponte, Clara
Published in BMC medical genetics (16.06.2009)
Published in BMC medical genetics (16.06.2009)
Get full text
Journal Article
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
Madrigal, Irene, Alvarez-Mora, Maria Isabel, Karlberg, Olof, Rodríguez-Revenga, Laia, Elurbe, Dei M, Rabionet, Raquel, Mur, Antonio, Pie, Juan, Ballesta, Francisca, Sauer, Sascha, Syvänen, Ann-Christine, Milà, Montserrat
Published in Journal of clinical pathology (01.12.2014)
Published in Journal of clinical pathology (01.12.2014)
Get full text
Journal Article
University Entrepreneurship at the Service of Rural Society. The RuralYU Project as an Action Learning Process
Sáiz Mauleón, María Begoña, Badía Madrigal, Irene, Gorriz Salanova, Rita, Mondragón Pons, Inés, Olcina Marcos, Victoria, Sáez Martínez, Pedro, Tortosa Juanes, Pablo, García Martín, Guillem, Cos Aznar, María
Published in Multidisciplinary journal for education, social and technological sciences (01.04.2023)
Published in Multidisciplinary journal for education, social and technological sciences (01.04.2023)
Get full text
Journal Article
Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization
Madrigal, Irene, Fernández-Burriel, Miguel, Rodriguez-Revenga, Laia, Cabrera, Jose Carlos, Martí, Milagros, Mur, Antonio, Milà, Montserrat
Published in Journal of human genetics (01.12.2010)
Published in Journal of human genetics (01.12.2010)
Get full text
Journal Article
Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women
Ardiles-Ruesjas, Victoria, Viñals, Roser, Pauta, Montse, Madrigal, Irene, Borrell, Antoni
Published in Journal of clinical medicine (19.08.2024)
Published in Journal of clinical medicine (19.08.2024)
Get full text
Journal Article
A novel NONO nonsense variant in a fetus with renal abnormalities
Rodriguez‐Revenga, Laia, Nadal, Alfons, Borobio, Virginia, Álvarez‐Mora, Maria Isabel, Madrigal, Irene, Pauta, Montse, Borrell, Antoni
Published in Prenatal diagnosis (01.01.2024)
Published in Prenatal diagnosis (01.01.2024)
Get full text
Journal Article
Cell-Free DNA Testing: What Is the Reason Why High-Risk Women Choose It?
Benítez-Quintanilla, Leticia, Pauta, Montse, Matas, Isabel, Madrigal, Irene, Borrell, Antoni
Published in Fetal diagnosis and therapy (01.01.2021)
Published in Fetal diagnosis and therapy (01.01.2021)
Get more information
Journal Article
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Cioclu, Maria Cristina, Mosca, Ilaria, Ambrosino, Paolo, Puzo, Deborah, Bayat, Allan, Wortmann, Saskia B, Koch, Johannes, Strehlow, Vincent, Shirai, Kentaro, Matsumoto, Naomichi, Sanders, Stephan J, Michaud, Vincent, Legendre, Marine, Riva, Antonella, Striano, Pasquale, Muhle, Hiltrud, Pendziwiat, Manuela, Lesca, Gaetan, Mangano, Giuseppe Donato, Nardello, Rosaria, Lemke, Johannes R, Møller, Rikke S, Soldovieri, Maria Virginia, Rubboli, Guido, Taglialatela, Maurizio
Published in Annals of neurology (01.08.2023)
Published in Annals of neurology (01.08.2023)
Get full text
Journal Article
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension
Puigdevall, Pau, Piccari, Lucilla, Blanco, Isabel, Barberà, Joan Albert, Geiger, Dan, Badenas, Celia, Milà, Montserrat, Castelo, Robert, Madrigal, Irene
Published in Journal of medical genetics (01.07.2019)
Published in Journal of medical genetics (01.07.2019)
Get full text
Journal Article
Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?
Marquès, Borja, Benitez, Leticia, Peguero, Anna, Madrigal, Irene, Gómez, Olga, Figueras, Francesc, Borrell, Antoni
Published in Fetal diagnosis and therapy (01.04.2020)
Published in Fetal diagnosis and therapy (01.04.2020)
Get more information
Journal Article