A5077711433- Cardiac electrophysiology and arrhythmias
- Cardiovascular Effects of Exercise
- Genomic variations and chromosomal abnormalities
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- RNA and protein synthesis mechanisms
- Viral Infections and Immunology Research
- Neuroscience and Neuropharmacology Research
- Cardiac pacing and defibrillation studies
- Congenital heart defects research
- Gestational Trophoblastic Disease Studies
- Immune Cell Function and Interaction
- Genetic Syndromes and Imprinting
- Autoimmune and Inflammatory Disorders Research
- Congenital Anomalies and Fetal Surgery
- Immunodeficiency and Autoimmune Disorders
- Mitochondrial Function and Pathology
- Ion Transport and Channel Regulation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Autism Spectrum Disorder Research
- Chromatin Remodeling and Cancer
Clínica Girona
2025
Institut d'Investigació Biomèdica de Girona
2014-2025
Hospital Universitari de Girona Doctor Josep Trueta
2020-2024
Institut Català de la Salut
2020-2024
University of Girona
2014-2020
Centro de Investigación Biomédica en Red
2017-2018
Centro de Investigación en Red en Enfermedades Cardiovasculares
2017-2018
Hospital Clínic de Barcelona
2010-2012
Lymphatic Education & Research Network
2010
Universitat de Barcelona
2009
In order to contribute the knowledge of type and frequency chromosome abnormalities in early pregnancy losses, we analyzed cytogenetic results from a large series first trimester miscarriages, using diagnostic approach with high success rate no maternal contamination. A total 1,119 consecutive chorionic villi samples were obtained before evacuation, karyotypes prepared after short-term culture (STC). 603 samples, long-term (LTC) was also performed. The overall individual frequencies...
Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies enable unraveling etiology and identification relatives at risk. The aim our study was to define natural deaths, younger than 50 years age, investigate whether defects associated with diseases could provide a potential for cases.Our cohort included total 789 consecutive cases (77.19% males) <50 old (average 38.6±12.2 old) who died suddenly from non-violent causes. A...
To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, to evaluate clinical value chromosomal microarray-based analysis (CMA) in study such pregnancies.First, we carried out retrospective cases diagnosed between January 2009 December 2011 our center findings (n = 276). Second, CMA was performed 51 normal negative or no study, only fetus a heart defect an apparently balanced de novo rearrangement.Out...
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) preferred genetic test, but diagnostic value of screening for minor and candidate genes, role copy number variants (CNVs) deserves further evaluation.
The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and develop consensus recommendations for standardizing their reporting across six centers within Catalan public health system (XIGENICS network). A retrospective review 4219 consecutive microarrays performed network from 2018 2023 was conducted, including all referral reasons. To recommendations, several discussion meetings were held along with an...
Sudden unexpected death in epilepsy is an unpredicted condition patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause death. Although the pathophysiological mechanisms that underlie this entity remain unknown, fact can affect cardiac function surprising. The genetic factors involving ion channels co-expressed heart brain other candidate genes have been previously described. In present study, 20 personal or family history rhythm disturbance/cardiac...
Background Long QT Syndrome is an inherited channelopathy leading to sudden cardiac death due ventricular arrhythmias. Despite that several genes have been associated with the disease, nearly 20% of cases remain without identified genetic cause. Other alterations such as copy number variations recently related Syndrome. Our aim was take advantage current technologies in a family affected by order identify cause disease. Methods Complete clinical evaluation performed all members. In index...
Background Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden death in patients with structurally normal heart. Genetic variations SCN5A be identified approximately 20-25% of BrS cases. The aim our work was determine the spectrum and prevalence Spanish cohort diagnosed BrS. Methodology/Principal Findings We directly sequenced fourteen genes reported associated 55 unrelated clinically diagnosed. Our screening allowed identification 61 variants. Of them, 20...
Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden death. The recommended genetic testing (direct sequencing SCN5A) uncovers disease-causing SNVs and/or indels in ~20% cases. Limited information exists about the frequency copy number variants (CNVs) SCN5A BrS patients, and role CNVs BrS-minor genes completely unexplored field.220 patients with negative results were studied detect SCN5A. 63 cases also screened for genes. Studies performed by Multiplex...
A leading cause of death in western countries is sudden cardiac death, and can be associated with genetic disease. Next-generation sequencing has allowed thorough analysis genes this entity, including, most recently, titin. We aimed to identify potentially pathogenic variants total 1126 samples were analyzed using a custom panel including major related death. Our cohort was divided into three groups: 432 cases from patients cardiomyopathies, 130 channelopathies, 564 post-mortem individuals...
Abstract We report on a girl with mild dysmorphic facial features, Dandy–Walker malformation (DWM), iris coloboma, profound hearing loss, and hyperlaxity of skin joints, whose karyotype is 46,XX,t(6;13)(q23;q32)dn who has cryptic imbalance at the 13q32 translocation breakpoint assessed by array‐CGH. Our patient many clinical manifestations in common those previously reported cases deletions, which suggests that least part abnormal phenotype probably due to imbalance. The recurrent finding...
Abstract The deletion of the long arm chromosome 18 causes a contiguous gene syndrome with highly variable phenotype, usually related to extent deleted region. most commonly reported clinical features include: decreased growth, microcephaly, facial abnormalities, hypotonia, developmental delay, intellectual disability, congenital aural atresia hearing impairment and limb anomalies. Here we report on familial terminal 18q23 region transmitted from mother two daughters, resulting in remarkable...
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in SPG11 gene (MIM *610844). Methods The proband a 36‐year‐old female referred for genetic evaluation due to cognitive dysfunction, gait impairment, and corpus callosum atrophy (brain MRI was normal at 25‐years‐old). Diagnostic approaches included CGH array, next‐generation sequencing, whole transcriptome sequencing....
Interstitial deletions of the short arm chromosome 3 are rare, and a specific clinical phenotype has not been defined. We report first isolated cryptic proximal interstitial 3p deletion, del(3)(p12.3p13), assessed by array-based comparative genomic hybridization in girl with an inversion 7, whose includes neurodevelopmental delay, growth retardation, dysmorphic facial features, hypophysis hypoplasia, gastroesophageal reflux, clinodactyly, preauricular appendix, myopia. Her features similar...