IRENE MADEMONT SOLER

Precision Oncology in Girona , Neurodevelopmental disorders , Research in Vascular Health

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ZDHHC15 as a candidate gene for autism spectrum disorder.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191, 941-947 dx.doi.org/10.1002/ajmg.a.63099

Medical Imaging , Neurodevelopmental disorders

Mademont-Soler I, Casellas-Vidal D, Trujillo A, Espuña-Capote N, MAROTO, A., García-González MDM, Ruiz MD, Diego-Álvarez D, Queralt X, Perapoch J, Obón M

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185, 476-485 dx.doi.org/10.1002/ajmg.a.61996

Cardiovascular Genetics , Neurodevelopmental disorders

Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol V, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C, Tiron C, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2020, 47, 102281-102281 dx.doi.org/10.1016/j.fsigen.2020.102281

Cardiovascular Genetics , Neurodevelopmental disorders

Campuzano O, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Coll M, Fiol V, Iglesias A, Perez-Serra A, Mates J, Del Olmo B, Ferrer C, Alcalde M, Puigmulé M, Mademont-Soler I, Pico F, Lopez L, Tiron C, Brugada J, Brugada R

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

Frontiers in Genetics, 2019, 10, 450-450 dx.doi.org/10.3389/fgene.2019.00450

Cardiovascular Genetics , Neurodevelopmental disorders

Restrepo-Cordoba MA, Campuzano O, Ripoll-Vera T, Cobo-Marcos M, Mademont-Soler I, Gámez JM, Dominguez F, Gonzalez-Lopez E, Padron-Barthe L, Lara-Pezzi E, Alonso-Pulpon L, Brugada R, Garcia-Pavia P

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data (vol 10, pg 35, 2017)

JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 2019, 12, 389-390 dx.doi.org/10.1007/s12265-019-09901-5

Cardiovascular Genetics , Neurodevelopmental disorders

Campuzano O, Beltramo P, Fernandez A, Iglesias A, García L, Allegue C, Sarquella-Brugada G, Coll M, Perez-Serra A, Mademont-Soler I, Mates J, Del Olmo B, Rodríguez Á, Maciel N, Puigmulé M, Pico F, Cesar S, Brugada J, Cuesta A, Gutierrez C, Brugada R

Molecular autopsy in a cohort of infants died suddenly at rest

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2018, 37, 54-63 dx.doi.org/10.1016/j.fsigen.2018.07.023

Cardiovascular Genetics , Neurodevelopmental disorders

Mates J, Mademont-Soler I, Del Olmo B, Ferrer-Costa C, Coll M, Pérez-Serra A, Picó F, Allegue C, Fernandez-Falgueras A, Álvarez P, Yotti R, Espinosa MA, Sarquella-Brugada G, Cesar S, Carro E, Brugada J, Arbelo E, Garcia-Pavia P, Borregan M, Tizzano E, López-Granados A, Mazuelos F, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Díaz-Flores F, Trujillo F, Iglesias A, Fernandez-Aviles F, Campuzano O, Brugada R

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26, 1014-1025 dx.doi.org/10.1038/s41431-018-0119-1

Cardiovascular Genetics , Neurodevelopmental disorders

Campuzano O, Sanchez-Molero O, Fernandez A, Mademont-Soler I, Coll M, Perez-Serra A, Mates J, Del Olmo B, Pico F, Nogue-Navarro L, Sarquella-Brugada G, Iglesias A, Cesar S, Carro E, Borondo JC, Brugada J, Castellà J, Medallo J, Brugada R

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

SPORTS MEDICINE, 2017, 47, 2101-2115 dx.doi.org/10.1007/s40279-017-0705-3

Cardiovascular Genetics , Neurodevelopmental disorders

Coll M, Striano P, Ferrer-Costa C, Campuzano O, Matés J, Del Olmo B, Iglesias A, Pérez-Serra A, Mademont I, Picó F, Oliva A, Brugada R

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Plos One, 2017, 12 dx.doi.org/10.1371/journal.pone.0189618

Cardiovascular Genetics , Neurodevelopmental disorders

Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, Darnaude MT, González-Hevia JI, Brugada J, Fernandez-Aviles F, Brugada R

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One, 2017, 12 dx.doi.org/10.1371/journal.pone.0181465

Directori

Publicacions

ZDHHC15 as a candidate gene for autism spectrum disorder.

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data (vol 10, pg 35, 2017)

Molecular autopsy in a cohort of infants died suddenly at rest

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

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