A5071192176- Muscle Physiology and Disorders
- Connexins and lens biology
- Hearing, Cochlea, Tinnitus, Genetics
- RNA modifications and cancer
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- Neuroscience of respiration and sleep
- Cardiomyopathy and Myosin Studies
- Ubiquitin and proteasome pathways
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Congenital heart defects research
- Vestibular and auditory disorders
- Cardiac Arrhythmias and Treatments
- Protein Tyrosine Phosphatases
- Genetic Syndromes and Imprinting
- Biotin and Related Studies
- Prosthetics and Rehabilitation Robotics
- Childhood Cancer Survivors' Quality of Life
- Folate and B Vitamins Research
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Acute Lymphoblastic Leukemia research
- Epigenetics and DNA Methylation
Garrahan Hospital
2009-2025
Washington Center
2022
MRC Laboratory of Molecular Biology
2014
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, improved clinical care. Locus-specific databases allow collection, organization, storage, analysis genetic variants disease. Here, we describe development TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed data 7,149 held within database. A total 5,682 large were observed (80%...
Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability terms of progression than expected. In addition, as average life-expectancy increases, reliable data is req
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame milder Becker dystrophy. Exceptions are found in 10% of cases the production alternatively spliced transcripts is considered a key modifier disease severity. Several exonic have been shown induce exon-skipping, splice site result exon-skipping or activation cryptic sites. However, factors determining splicing pathway still unclear. Point provide valuable information regarding regulation pre-mRNA...
The aim of this study was to assess the prevalence congenital defects observed in patients with Prader-Willi syndrome (PWS) and compare that described general population. In addition, these findings were correlated different etiologic subtypes.A total 180 children PWS followed for 13 years included study. Diagnosis confirmed by methylation test, genetic subtypes established using fluorescence situ hybridization or multiplex ligation-dependent probe amplification microsatellite analyses....
The aim of this study was to evaluate the influence most common genetic variants in methylenetetrahydrofolate reductase (MTHFR), thiopurine methyltransferase (TPMT) and glutathione-S-transferases (GSTs) on outcome acute lymphoblastic leukemia (ALL) treatment Argentinean children. Two hundred eighty-six patients with ALL treated two Berlin-Frankfurt-Münster (BFM)-based protocols were analyzed. Ten studied. Toxicity evaluated during consolidation phase. Children who received 2 g/m(2)/day...
Abstract Noonan syndrome (NS) is caused by pathogenic variants in genes involved the RAS/MAPK pathway. On other hand, 22q11.2 Deletion Syndrome (22q11.2DS) heterozygous microdeletion on chromosome 22q11.2. The clinical characteristics of both syndromes are expected to be relatively distinct, and, fact, there only one report these occurring together, but daily practice and especially early childhood phenotypes may overlap. In this study, we describe a patient with NS 22q11.2DS features...