A5032444061- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Prenatal Screening and Diagnostics
- DNA Repair Mechanisms
- Skin and Cellular Biology Research
- Wnt/β-catenin signaling in development and cancer
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Genetic Neurodegenerative Diseases
- Gestational Trophoblastic Disease Studies
- Cancer Genomics and Diagnostics
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Mitochondrial Function and Pathology
- Plant Genetic and Mutation Studies
- Effects of Radiation Exposure
- Connective tissue disorders research
- Radiation Effects and Dosimetry
- Carcinogens and Genotoxicity Assessment
- Family and Disability Support Research
- DNA and Nucleic Acid Chemistry
- Genetic Syndromes and Imprinting
Institut Català de la Salut
2025
Vall d'Hebron Institut de Recerca
2024-2025
Universitat Autònoma de Barcelona
2007-2025
Vall d'Hebron Hospital Universitari
2024
Hospital Clínic de Barcelona
2009-2012
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2012
Fundació Clínic per a la Recerca Biomèdica
2009-2011
Hospital de Sant Pau
2010
Centre for Biomedical Network Research on Rare Diseases
2010
Biomedical Research Networking Center on Neurodegenerative Diseases
2010
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...
Abstract Placental mesenchymal dysplasia (PMD) is a rare placental pathology that may be associated with Beckwith–Wiedemann features in the fetus and due to presence of an androgenetic cell line. Many reported PMD cases describe biparental isodisomic The proposed mechanism formation by fertilization haploid ovum sperm duplication male pronucleus. We present case evidence participation three different gametes, one two spermatozoa, which led androgenetic/biparental chimera (ABC) fetal lines...
In Brief Objective: The association between FMR1 premutation and ovarian dysfunction has been widely studied, many factors such as the repeat tract size, sequence organization of CGG tract, parental origin premutation, mRNA levels have examined. X-chromosome inactivation also studied a risk factor, but reported results are inconclusive. Although some authors did not find an with premature failure manifestation, others suggest that severity premutation-associated phenotypes may be related to...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neuropsychiatric degenerative disorder that occurs predominantly in male FMR1 premutation carriers. Recently, broader FXTAS spectrum that, besides the core features of tremor and gait ataxia, also includes symptoms neuropathy as further clinically relevant has been described among females. Herein 2 fragile X families with mother-daughter transmission are detail order to shed more light on female phenotype.Molecular...
Purpose: To evaluate the cytogenetic damage induced by radiotherapy, effect of concomitant amifostine and persistence translocations dicentrics after treatment.Materials methods: Blood samples from 16 head neck cancer patients were obtained at different times, just before treatment, 1st 22nd sessions, end one, four 12 months later. Solid stain fluorescent in situ hybridization (FISH) techniques applied to analyse chromosome aberrations.Results: In all analysis frequencies plus rings slightly...
Palmoplantar keratoderma (PPK) is a multi-faceted skin disorder characterized by the thickening of epidermis and abrasions on palms soles feet. Among genetic causes, biallelic pathogenic variants in FAM83G gene have been associated with PPK dogs humans. Here, novel homozygous variant (c.794G>C, p.Arg265Pro) gene, identified whole exome sequencing 60-year-old female patient PPK, reported. The exhibited alterations both hands feet, dystrophic nails, thin, curly sparse hair, long upper...
Background/Objectives: Non-Invasive prenatal test (NIPT) is used as a universal or contingent after prior risk assessment. Screening mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in detection abnormalities pregnancies which an invasive and early pregnancy losses, comparison with reference test. Method: VeriSeqTM NIPT Solution v2, genome-wide (GWNIPT), testing fetal diagnostic...