A5013383606- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Growth Hormone and Insulin-like Growth Factors
- Connexins and lens biology
- RNA regulation and disease
- Corneal surgery and disorders
- Intraocular Surgery and Lenses
- Renal and related cancers
- Bone health and treatments
- Cardiomyopathy and Myosin Studies
- Glaucoma and retinal disorders
- Vascular Malformations and Hemangiomas
- Ophthalmology and Visual Impairment Studies
- Coronary Artery Anomalies
- Genetic and Kidney Cyst Diseases
- Williams Syndrome Research
Hospital Universitario La Paz
2016-2025
Centre for Biomedical Network Research on Rare Diseases
2016-2025
Instituto de Salud Carlos III
2015-2024
Centro de Investigación Biomédica en Red
2010-2022
Universidad Autónoma de Madrid
2014-2021
Hospital La Paz Institute for Health Research
2011-2021
Instituto de Investigaciones Biomédicas Sols-Morreale
2021
Universidad Complutense de Madrid
2020
Instituto de Investigación de Enfermedades Raras
2011-2019
Hospital Universitario Fundación Jiménez Díaz
2006-2013
Germline mutations in DNA damage repair (DDR) genes are identified a significant proportion of patients with metastatic prostate cancer, but the clinical implications these remain unclear. This prospective multicenter cohort study evaluated prevalence and effect germline DDR (gDDR) on castration-resistance cancer (mCRPC) outcomes.Unselected were enrolled at diagnosis mCRPC screened for gDDR 107 genes. The primary aim was to assess impact ATM/BRCA1/BRCA2/ PALB2 cause-specific survival (CSS)...
Abstract Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address landscape IRD in largest cohort Spanish patients reported date. A retrospective hospital-based cross-sectional study carried out on 6089 affected individuals (from 4403 unrelated families), referred for testing from all autonomous communities. Clinical, demographic...
Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal malformations (LMs). The etiology of GLA poorly understood. We identified four distinct somatic PIK3CA variants (Glu542Lys, Gln546Lys, His1047Arg, and His1047Leu) in tissue samples from five out nine patients with GLA. These same occur PIK3CA-related overgrowth spectrum cause hyperactivation the PI3K-AKT-mTOR pathway. found that mTOR inhibitor, rapamycin, prevented hyperplasia dysfunction mice...
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of long arm chromosome 22 (22q13.3) or pathogenic sequence variants in SHANK3 gene. codes for a structural protein that plays central role formation postsynaptic terminals and maintenance synaptic structures. Clinically, patients with PMS often present global developmental delay, absent severely delayed speech, neonatal hypotonia, minor dysmorphic features, autism spectrum disorders...
Leber Congenital Amaurosis (LCA) is one of the most severe inherited retinal dystrophies with earliest age onset. This study was a mutational analysis eight genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, MERTK, and LRAT) in 299 unrelated Spanish families, containing 42 patients initial diagnosis LCA: 107 early-onset autosomal recessive retinitis pigmentosa (ARRP; onset <10 years age) 150 non-early-onset ARRP (onset, >10 age).Samples were studied by using genotyping microarray (Asper...
Summary. The existence of foetal DNA in maternal blood, discovered 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes sex assessment by the detection specific Y chromosome sequences particularly important when a foetus may be affected an X‐linked disorder such as haemophilia. study aims to validate this method and test its clinical utility diagnosis 15 potentially pregnancies female carriers In validation study, 316 blood samples from 196 pregnant women at...
Abstract Background CRB1 mutations are reported as cause of severe congenital and early-onset retinal dystrophies (EORD) with different phenotypic manifestations, including Leber amaurosis (LCA), retinitis pigmentosa (RP) cone-rod dystrophies. Comprehensive mutational scanning the whole gene has been only performed in few cohorts, mainly LCA patients. Here, we aimed investigating real prevalence Spanish population by extensive screening a large cohort EORP cases. Methods This report...
Abstract IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of disease remain unclear. Based on a patient with full deletion clinically followed from neonate to adulthood, we investigated common pituitary origin for macroorchidism, role as regulator hormone secretion. The showed congenital reduced TSH biopotency, over-secretion FSH at neonatal minipuberty macroorchidism 3 years age. His markedly elevated...
Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion number genes responsible for both recessive forms this condition. Herein, we analyzed cohort patients with OI, all offspring unaffected parents, to determine spectrum variants accounting these cases. Twenty had nonrelated parents...
Objective Monoallelic variants in the transient receptor potential melastatin‐related type 3 gene ( TRPM3 ) have been associated with neurodevelopmental manifestations, but knowledge on clinical manifestations and treatment options is limited. We characterized spectrum, highlighting particularly epilepsy phenotype, effect of treatments. Methods analyzed retrospectively phenotypes genotypes 43 individuals variants, acquired from GeneMatcher collaborations (n = 21), through a systematic...
Beckwith-Wiedemann syndrome (BWS) is an overgrowth characterized by excessive prenatal and postnatal growth, macrosomia, macroglossia, hemihyperplasia. The molecular basis of this complex heterogeneous, involving genes located at 11p15.5. BWS correlated with assisted reproductive techniques. in individuals born following techniques has been found to occur four nine times higher compared children after spontaneous conception. Here, we report a series 187 patients either or conceived...
Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample peripheral blood obtained from probands and willing family members genomic DNA extracted leukocytes. analyzed implementing a panel (OFTv2.1) including 39 known disease genes. 62 51 families were recruited. Pathogenic or likely pathogenic variants identified 32 patients 25 families; 16 (64%) these de novo mutations. The...
purpose. Retinitis pigmentosa (RP) is a genetically heterogeneous group of inherited retinopathies. Up to now, 39 genes and loci have been implicated in nonsyndromic RP, yet the genetic bases >50% cases, particularly recessive forms, remain unknown. A novel gene (CERKL) has described as associated with RP26. It encodes ceramide kinase that assumed be involved sphingolipid-mediated apoptosis retina. This report phenotypes genotypes persons carrying disease-causing mutations CERKL. methods....
Abstract High‐resolution array comparative genomic hybridization (aCGH) is a powerful molecular cytogenetic tool that being adopted for diagnostic evaluation of imbalances and study disease mechanisms pathogenesis. We report on the design use, custom whole‐genome oligonucleotide‐based (called KaryoArray®v3.0; Agilent‐based 8 × 60 K) setting, which was able to detect new unexpected rearrangements in 11/63 (∼17.5%) previous known pathological cases associated with genetic disorders, second...
Overgrowth syndromes (OGS) are a group of disorders in which all parameters growth and physical development above the mean for age sex. We evaluated series 270 families from Spanish Syndrome Registry with no known OGS. identified one de novo deletion three missense mutations RNF125 six patients four overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, inflammatory diseases resembling Sjögren syndrome. encodes an E3 ubiquitin ligase is novel gene Our studies...