A5022777963- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Hippo pathway signaling and YAP/TAZ
- Growth Hormone and Insulin-like Growth Factors
- Cancer-related gene regulation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Epigenetics and DNA Methylation
- Medical Imaging and Pathology Studies
- Congenital heart defects research
- Parathyroid Disorders and Treatments
- Genetic and Kidney Cyst Diseases
- Connective tissue disorders research
- Lipoproteins and Cardiovascular Health
- CNS Lymphoma Diagnosis and Treatment
- Thyroid Disorders and Treatments
- Assisted Reproductive Technology and Twin Pregnancy
- Genetic factors in colorectal cancer
- Pediatric Hepatobiliary Diseases and Treatments
- Clinical Nutrition and Gastroenterology
- Bone health and treatments
- Wnt/β-catenin signaling in development and cancer
- Infrared Thermography in Medicine
- Genomic variations and chromosomal abnormalities
- Analytical Chemistry and Chromatography
Hospital Universitario Virgen de las Nieves
2024
Research Institute Hospital 12 de Octubre
2017-2024
Hospital Universitario 12 De Octubre
2018-2020
Hospital Universitari i Politècnic La Fe
2009
Abstract We report the clinical and genetic findings in a 15‐year‐old Spanish boy presenting prenatal postnatal growth retardation, reduced subcutaneous adipose tissue, premature skin wrinkling, sparse hair, short distal phalanges with small nails, umbilical hernia, wide anterior fontanel, normal cognitive motor development. Exome sequencing uncovered heterozygous mutation SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for calcium‐binding mitochondrial carrier protein SCaMC‐1. This...
Familial hypercholesterolemia is an autosomal dominant disease of lipid metabolism caused by defects in the genes LDLR, APOB, and PCSK9. The prevalence heterozygous familial (HeFH) estimated between 1/200 1/250. Early detection patients with FH allows initiation treatment, thus reducing risk coronary heart disease. In this study, we performed vitro characterization new LDLR variants found our patients. Genetic analysis was Next Generation Sequencing using a customized panel 198 DNA samples...
Identification of a frameshift heterozygous mutation in the transcription factor NKX2-1 patient with brain-lung-thyroid syndrome (BLTS) and life-threatening lung emphysema. To study genetic defect that causes this complex phenotype dissect molecular mechanism underlying through functional analysis. Mutational by DNA sequencing, generation expression vectors, site-directed mutagenesis, protein–DNA-binding assays, luciferase reporter gene confocal microscopy, coimmunoprecipitation,...
Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand feet skeletal anomalies with short stature. Genetic screening individuals stature has increasing over recent years, allowing us broaden clinical spectrum of dysplasias.The objective this article is describe genotype phenotype 16 probands heterozygous IHH.Targeted next-generation sequencing or Sanger was performed patients and/or for which genetic unknown.Fifteen different...
Brain-lung-thyroid syndrome (BLTS) is caused by