MARIA OBON FERRER

Trastornos del neurodesarrollo

Mauri S, Nieto-Moragas J, Obón M, Oriola J

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Jcem Case Reports, 2024, 2, 153-153 dx.doi.org/10.1210/jcemcr/luad153

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

Neurodegenerativas y neuroinflamación , Trastornos del neurodesarrollo

Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Neurology, 2018, 91, 1988-1998 dx.doi.org/10.1212/WNL.0000000000006550

Trastornos del neurodesarrollo , Patología Cerebrovascular

Vera-Cáceres C, Nersesyan N, Obon M, Terceño M, Serena J, Álvarez-Cienfuegos J, Xuclà T, Bashir S, Silva Y

Iatrogenic Cerebral Amyloid Angiopathy: Two Case Reports to Explore Clinical Heterogeneity and Pathological Patterns.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 107969-107969 dx.doi.org/10.1016/j.jstrokecerebrovasdis.2024.107969

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Publicacions

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

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

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Iatrogenic Cerebral Amyloid Angiopathy: Two Case Reports to Explore Clinical Heterogeneity and Pathological Patterns.

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