A5035342216- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Genetic Syndromes and Imprinting
- Autism Spectrum Disorder Research
- Mitochondrial Function and Pathology
- Congenital Anomalies and Fetal Surgery
- Chromosomal and Genetic Variations
- Parvovirus B19 Infection Studies
- Fetal and Pediatric Neurological Disorders
- Muscle Physiology and Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Neurological disorders and treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Family and Disability Support Research
- Ubiquitin and proteasome pathways
- Gestational Trophoblastic Disease Studies
- Assisted Reproductive Technology and Twin Pregnancy
- Comparative Literary Analysis and Criticism
- Congenital Heart Disease Studies
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Connective tissue disorders research
Hospital Clínic de Barcelona
2013-2025
Instituto de Investigación de Enfermedades Raras
2009-2025
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2010-2025
Instituto de Salud Carlos III
2010-2025
Centro de Investigación Biomédica en Red
2007-2025
Universitat de Barcelona
2004-2025
Instituto Cajal
2024
Centre for Biomedical Network Research on Rare Diseases
2009-2023
Institució Catalana de Recerca i Estudis Avançats
2022
Institut d'Investigació Biomédica de Bellvitge
2022
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by expanded CAG repeats in the huntingtin ( HTT ) gene. Although several palliative treatments are available, there currently no cure and patients generally die 10–15 y after diagnosis. Several promising approaches for HD therapy development, including RNAi antisense analogs. We developed complementary strategy to test repression of mutant with zinc finger proteins (ZFPs) an model. tested “molecular tape...
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...
Abstract Background Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases highly both genetic environmental factors play an important role in many them. The introduction next generation sequencing (NGS) has lead to the detection variants several diseases. main aim this report is discuss impact advantages implementation NGS diagnosis...
In this work, we investigated the effects of Casiopeina Il-gly (Cas ILgly)—a new copper compound exhibiting antineoplastic activity—on glioma C6 cells under both in vitro and vivo conditions, as an approach to identify potential therapeutic agents against malignant glioma. The exposure Cas Ilgly significantly inhibited cell proliferation, increased reactive oxygen species (ROS) formation, induced apoptosis a dose-dependent manner. cultured cells, caused mitochondrio-nuclear translocation...
Is there any effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage?There was no significant difference the chromosome abnormality between sporadic miscarriage but increased significantly with age.About 50-70% non-recurrent miscarriages occur because a anomaly, agreement about either or number previous has been reached.A retrospective cohort 353 successfully karyotyped same center 2002 2011, grouped according to age.Among women, 153 were below 35 years (73...
Abstract Conventional tissue culturing and karyotyping of spontaneous abortions has limitations such as culture failure, external contamination selective growth maternal cells. Molecular cytogenetic techniques FISH, QF‐PCR, CGH allow diagnosis on uncultured cells but are also limited to the spectrum abnormalities detected. We describe findings in a series 116 first trimester arrested pregnancies, obtained through chorionic villi sampling (CVS) semi‐direct analysis that avoids some...
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...
The term neuromuscular disorder (NMD) includes many genetic and acquired diseases differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, clinical, pathological, heterogeneity, absence an established genotype-phenotype correlation, exceptionally size some causative genes such as TTN, NEB RYR1. We evaluated diagnostic value a custom targeted next-generation gene panel to study...
<b><i>Background:</i></b> Myotonic dystrophy type 1 (DM1) is associated with the expansion of an unstable CTG repeat. Larger alleles are a more severe form disease and almost always increase in length from one generation to next, accounting for clinical anticipation characteristic DM1. As such, expanded rapidly lost population. However, incidence appears remain constant. It was authors' our aim determine frequency germline stability DM1 premutation that give rise new families....
Abstract Objective To assess the effectiveness of Combined Test in prenatal detection trisomy 21 general pregnant population using a new timing for screening approach. Methods First‐trimester maternal serum biochemical markers (pregnancy‐associated plasma protein‐A and free‐β hCG) were determined at 7 to 12 weeks. Fetal nuchal translucency gestational age assessed 10‐ 14‐week ultrasound scan. A combined risk was estimated delivered women same day. When 1:250 or above, chorionic villus...
Abstract Background Aproximately 5–10% of cases mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help uncover cryptic rearrangements X-linked (XLMR) patients. We have constructed an X-chromosome tiling path using bacterial artificial chromosomes (BACs) and validated it samples with cytogenetically defined changes. studied 54 patients idiopathic 20 controls subjects. Results...
Nuclear transfer experiments undertaken in the mid-80's revealed that both maternal and paternal genomes are necessary for normal development. This is due to genomic imprinting, an epigenetic mechanism results parent-of-origin monoallelic expression of genes regulated by germline-derived allelic methylation. To date, ∼100 imprinted transcripts have been identified mouse, with approximately two-thirds showing conservation humans. It currently unknown how many present humans, what extent these...
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting 1:3,500 individuals. Disease expression highly variable and complications are diverse. However, currently there no specific treatment for the disease. NF1 caused by mutations in gene, approximately 2.1% of constitutional identified our population deep intronic producing insertion a cryptic exon into mature mRNA. We used antisense morpholino oligomers (AMOs) to restore normal splicing primary fibroblast lymphocyte cell...
To assess the perinatal and pediatric outcomes up to 2 years of age in singleton karyotypically normal fetuses with increased nuchal translucency (NT) above 99(th) percentile.Singleton NT percentile karyotype scanned our center from 2002 2006 were included. Work-up included first- second-trimester anomaly scan, fetal echocardiography, selected cases infection screening genetic testing. Among survivors, a follow-up was undertaken.During this 4-year period, 171 study. There seven spontaneous...
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation future reinterpretation. The Undiagnosed Rare Disease Program Catalonia project collated previously inconclusive good quality (panels, exomes, genomes) standardized phenotypic profiles from 323 families (543 individuals) with...