Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay
Martínez‐Diago, Clara, Mademont‐Soler, Irene, Bonmatí, Alexandra, Rodo, Carlota, Alberch, Ariadna, Obon, María, Fuertes, Begoña, Maroto, Anna
Published in Prenatal diagnosis (01.07.2024)
Published in Prenatal diagnosis (01.07.2024)
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Journal Article
ZDHHC15 as a candidate gene for autism spectrum disorder
Casellas‐Vidal, Dolors, Mademont‐Soler, Irene, Sánchez, Joana, Plaja, Alberto, Castells, Neus, Camós, Maria, Nieto‐Moragas, Javier, Mar García, Maria, Rodriguez‐Solera, Celia, Rivera, Helena, Brunet, Joan, Álvarez, Sara, Perapoch, Josep, Queralt, Xavier, Obón, María
Published in American journal of medical genetics. Part A (01.04.2023)
Published in American journal of medical genetics. Part A (01.04.2023)
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Journal Article
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms
Mademont‐Soler, Irene, Casellas‐Vidal, Dolors, Trujillo, Alberto, Espuña‐Capote, Núria, Maroto, Anna, García‐González, Maria del Mar, Ruiz, María Dolores, Diego‐Álvarez, Dan, Queralt, Xavier, Perapoch, Josep, Obón, María
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology
Campuzano, Oscar, Sarquella-Brugada, Georgia, Mademont-Soler, Irene, Allegue, Catarina, Cesar, Sergi, Ferrer-Costa, Carles, Coll, Monica, Mates, Jesus, Iglesias, Anna, Brugada, Josep, Brugada, Ramon
Published in PloS one (10.12.2014)
Published in PloS one (10.12.2014)
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Journal Article
Post-mortem genetic analysis in juvenile cases of sudden cardiac death
Campuzano, Oscar, Sanchez-Molero, Olallo, Allegue, Catarina, Coll, Monica, Mademont-Soler, Irene, Selga, Elisabet, Ferrer-Costa, Carles, Mates, Jesus, Iglesias, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Brugada, Josep, Castellà, Josep, Medallo, Jordi, Brugada, Ramon
Published in Forensic science international (01.12.2014)
Published in Forensic science international (01.12.2014)
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Journal Article
Large Genomic Imbalances in Brugada Syndrome
Mademont-Soler, Irene, Pinsach-Abuin, Mel Lina, Riuró, Helena, Mates, Jesus, Pérez-Serra, Alexandra, Coll, Mònica, Porres, José Manuel, Del Olmo, Bernat, Iglesias, Anna, Selga, Elisabet, Picó, Ferran, Pagans, Sara, Ferrer-Costa, Carles, Sarquella-Brugada, Geòrgia, Arbelo, Elena, Cesar, Sergi, Brugada, Josep, Campuzano, Óscar, Brugada, Ramon
Published in PloS one (29.09.2016)
Published in PloS one (29.09.2016)
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Journal Article
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort
Selga, Elisabet, Campuzano, Oscar, Pinsach-Abuin, Mel Lina, Pérez-Serra, Alexandra, Mademont-Soler, Irene, Riuró, Helena, Picó, Ferran, Coll, Mònica, Iglesias, Anna, Pagans, Sara, Sarquella-Brugada, Georgia, Berne, Paola, Benito, Begoña, Brugada, Josep, Porres, José M, López Zea, Matilde, Castro-Urda, Víctor, Fernández-Lozano, Ignacio, Brugada, Ramon
Published in PloS one (14.07.2015)
Published in PloS one (14.07.2015)
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Journal Article
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11
Mademont‐Soler, Irene, Esteba‐Castillo, Susanna, Jiménez‐Xifra, Aida, Alemany, Berta, Ribas‐Vidal, Núria, Cutillas, Maria, Coll, Mònica, Pinsach, Mel·lina, Pagans, Sara, Alcalde, Mireia, Viñas‐Jornet, Marina, Montero‐Vale, Mercedes, Castro‐Miró, Marta, Rodríguez, Jairo, Armengol, Lluís, Queralt, Xavier, Obón, María
Published in Molecular genetics & genomic medicine (01.06.2024)
Published in Molecular genetics & genomic medicine (01.06.2024)
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Journal Article
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death
Campuzano, Oscar, Sanchez-Molero, Olallo, Mademont-Soler, Irene, Riuró, Helena, Allegue, Catarina, Coll, Monica, Pérez-Serra, Alexandra, Mates, Jesus, Picó, Ferran, Iglesias, Anna, Brugada, Ramon
Published in International journal of molecular sciences (27.10.2015)
Published in International journal of molecular sciences (27.10.2015)
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Journal Article
Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes
Soler, Anna, Morales, Carme, Mademont-Soler, Irene, Margarit, Ester, Borrell, Antoni, Borobio, Virginia, Muñoz, Miriam, Sánchez, Aurora
Published in Cytogenetic and genome research (2017)
Published in Cytogenetic and genome research (2017)
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Journal Article
Further defining the critical genes for the 4q21 microdeletion disorder
Hu, Xuyun, Chen, Xiaoli, Wu, Bingbing, Soler, Irene Mademont, Chen, Shaoke, Shen, Yiping
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Journal Article
Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade
Mademont-Soler, Irene, Morales, Carme, Clusellas, Núria, Soler, Anna, Sánchez, Aurora
Published in European journal of obstetrics & gynecology and reproductive biology (01.08.2011)
Published in European journal of obstetrics & gynecology and reproductive biology (01.08.2011)
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Journal Article
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies
Campuzano, Oscar, Fernandez-Falgueras, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, García-Álvarez, Ana, Jordà, Paloma, Coll, Monica, Fiol, Victoria, Iglesias, Anna, Perez-Serra, Alexandra, Mates, Jesus, Del Olmo, Bernat, Ferrer, Carles, Alcalde, Mireia, Puigmulé, Marta, Mademont-Soler, Irene, Pico, Ferran, Lopez, Laura, Tiron, Coloma, Brugada, Josep, Brugada, Ramon
Published in Frontiers in genetics (15.05.2019)
Published in Frontiers in genetics (15.05.2019)
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Journal Article
Description of the smallest critical region for Dandy–Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)
Mademont‐Soler, Irene, Morales, Carme, Armengol, Lluís, Soler, Anna, Sánchez, Aurora
Published in American journal of medical genetics. Part A (01.09.2010)
Published in American journal of medical genetics. Part A (01.09.2010)
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Journal Article
Reproductive consequences of genome-wide paternal uniparental disomy mosaicism: description of two cases with different mechanisms of origin and pregnancy outcomes
Morales, Carme, Ph.D, Soler, Anna, Ph.D, Badenas, Cèlia, Ph.D, Rodríguez-Revenga, Laia, Ph.D, Nadal, Alfons, M.D., Ph.D, Martínez, José M., M.D., Ph.D, Mademont-Soler, Irene, Ph.D, Borrell, Antoni, M.D., Ph.D, Milà, Montserrat, Ph.D, Sánchez, Aurora, M.D., Ph.D
Published in Fertility and sterility (01.07.2009)
Published in Fertility and sterility (01.07.2009)
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Journal Article
Subtelomeric MLPA: is it really useful in prenatal diagnosis?
Mademont-Soler, Irene, Morales, Carme, Bruguera, Jordi, Madrigal, Irene, Clusellas, Núria, Margarit, Ester, Sánchez, Aurora, Soler, Anna
Published in Prenatal diagnosis (01.12.2010)
Published in Prenatal diagnosis (01.12.2010)
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Journal Article
Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation
Mademont‐Soler, Irene, Morales, Carme, Madrigal, Irene, Margarit, Ester, Bruguera, Jordi, Clusellas, Núria, Martínez, José M., Borrell, Antoni, Sánchez, Aurora, Soler, Anna
Published in American journal of medical genetics. Part A (01.12.2009)
Published in American journal of medical genetics. Part A (01.12.2009)
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Journal Article
Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
Mates, Jesus, Mademont-Soler, Irene, Fernandez-Falgueras, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, García-Álvarez, Ana, Jordà, Paloma, Toro, Rocío, Coll, Mónica, Fiol, Victoria, Iglesias, Anna, Perez-Serra, Alexandra, Olmo, Bernat del, Alcalde, Mireia, Puigmulé, Marta, Pico, Ferran, Lopez, Laura, Ferrer, Carles, Tiron, Coloma, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar
Published in Forensic science international : genetics (01.07.2020)
Published in Forensic science international : genetics (01.07.2020)
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Journal Article
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
Mademont-Soler, Irene, Mates, Jesus, Yotti, Raquel, Espinosa, Maria Angeles, Pérez-Serra, Alexandra, Fernandez-Avila, Ana Isabel, Coll, Monica, Méndez, Irene, Iglesias, Anna, Del Olmo, Bernat, Riuró, Helena, Cuenca, Sofía, Allegue, Catarina, Campuzano, Oscar, Picó, Ferran, Ferrer-Costa, Carles, Álvarez, Patricia, Castillo, Sergio, Garcia-Pavia, Pablo, Gonzalez-Lopez, Esther, Padron-Barthe, Laura, Díaz de Bustamante, Aranzazu, Darnaude, María Teresa, González-Hevia, José Ignacio, Brugada, Josep, Fernandez-Aviles, Francisco, Brugada, Ramon
Published in PloS one (03.08.2017)
Published in PloS one (03.08.2017)
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Journal Article