IRENE MADEMONT SOLER

Trastornos del neurodesarrollo , Investigación Metabólica y Maternofetal

Martínez-Diago, C, Mademont-Soler, I, Bonmati, A, Rodo, C, Alberch, A, Obon, M, Fuertes, B, Maroto, A

Novel variant in <i>ACTA1</i> identified in a fetus with akinesia deformation sequence and cortical development delay

PRENATAL DIAGNOSIS, 2024, 44, 996-998 dx.doi.org/10.1002/pd.6568

Trastornos del neurodesarrollo , Neurodegenerativas y neuroinflamación , Genética Cardiovascular

Mademont-Soler I, Esteba-Castillo S, Jiménez-Xifra A, Alemany B, Ribas-Vidal N, Cutillas M, Coll M, Pinsach ML, Pagans S, Alcalde M, Viñas-Jornet M, Montero-Vale M, de Castro-Miró M, Rodríguez J, Armengol L, Queralt X, Obón M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Molecular genetics & genomic medicine, 2024, 12, 2475-2475 dx.doi.org/10.1002/mgg3.2475

Trastornos del neurodesarrollo

Saiz-Sierra L, Marull Arnall A, Nieto-Moragas J, Deulofeu M, Jiménez Romero O, Mademont I, Obón Ferrer M, Serrando Querol MT

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO, 2024, 5, 221-225 dx.doi.org/10.1515/almed-2023-0136

Trastornos del neurodesarrollo

Saiz-Sierra L, Marull Arnall A, Nieto-Moragas J, Deulofeu M, Jiménez Romero O, Mademont I, Obón Ferrer M, Serrando Querol MT

Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso.

ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO, 2024, 5, 226-230 dx.doi.org/10.1515/almed-2024-0016

Trastornos del neurodesarrollo , Neurodegenerativas y neuroinflamación

Mademont-Soler, I, Esteba-Castillo, S, Nieto-Moragas, J, Alemany, B, Rodríguez, J, de Castro-Miró, M, Montero-Vale, MM, Cherino, A, Cutillas, M, Armengol, L, Queralt, X, Obón, M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32, 210-211

Oncología de Precisión de Girona , Trastornos del neurodesarrollo , Investigación en Salud Vascular

Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M

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

Imagen Médica , Trastornos del neurodesarrollo

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

Genética Cardiovascular , Trastornos del neurodesarrollo

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

Genética Cardiovascular , Trastornos del neurodesarrollo

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

Genética Cardiovascular , Trastornos del neurodesarrollo

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

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Publicacions

Novel variant in <i>ACTA1</i> identified in a fetus with akinesia deformation sequence and cortical development delay

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

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)

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