Alström syndrome: current perspectives
Álvarez-Satta M, Castro-Sánchez S, Valverde D (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 20, 2015 Category: Genetics & Stem Cells Source Type: research
Recent advances in gene therapy for lysosomal storage disorders
David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a group of genetic diseases that result in metabolic derangements of the lysosome. Most LSDs are due to the genetic absence of a single catabolic enzyme, causing accumulation of the enzyme's substrate within the lysosome. Over time, tissue-specific substrate accumulations result in a spectrum of symptoms and disabilities that vary by LSD. LSDs are promising targets for gen...
Source: Application of Clinical Genetics - June 23, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Gene therapy and lysosomal storage disorders
Rastall DP, Amalfitano A (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 22, 2015 Category: Genetics & Stem Cells Source Type: research
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome
Yskert von Kodolitsch,1 Julie De Backer,2 Helke Schüler,1 Peter Bannas,3 Cyrus Behzadi,3 Alexander M Bernhardt,1 Mathias Hillebrand,1 Bettina Fuisting,4 Sara Sheikhzadeh,1 Meike Rybczynski,1 Tilo Kölbel,1 Klaus Püschel,5 Stefan Blankenberg,1 Peter N Robinson61Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany; 2Centre for Medical Genetics, University Hospital Ghent, Ghent, Belgium; 3Diagnostic and Interventional Radiology Department and Clinic, 4Department of Ophthalmology, 5Department of Legal Medicine, University Hospital Eppendorf, Hamburg, Germany; 6Institute of Medical Genetics and Hu...
Source: Application of Clinical Genetics - June 16, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Diagnostic criteria for Marfan syndrome
von Kodolitsch Y, De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, Robinson PN (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 16, 2015 Category: Genetics & Stem Cells Source Type: research
Hardy & ndash;Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 2, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Hardy–Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases
Salvador Trejo, José J Toscano-Flores, Esmeralda Matute, María de Lourdes Ramírez-Dueñas Laboratorio de Neuropsicología y Neurolingüística, Instituto de Neurociencias CUCBA, Guadalajara, Jalisco, Mexico Abstract: The aim of this study was to obtain the genotype and gene frequency from parents of children with attention-deficit/hyperactivity disorder (ADHD) and then assess the Hardy–Weinberg equilibrium of genotype frequency of the variable number tandem repeat (VNTR) III exon of the dopamine receptor D4 (DRD4) gene. The genotypes of the III exon of 48 bp VNTR repeats of...
Source: Application of Clinical Genetics - June 2, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
DRD4 in Hardy–Weinberg disequilibrium
Trejo S, Toscano-Flores JJ, Matute E, Ramírez-Dueñas ML (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 1, 2015 Category: Genetics & Stem Cells Source Type: research
22q11 deletion syndrome: current perspective
Bülent Hacihamdioğlu,1 Duygu Hacihamdioğlu,2 Kenan Delil3 1Department of Pediatric Endocrinology, 2Department of Pediatric Nephrology, GATA Haydarpasa Training Hospital, 3Department of Medical Genetics, Marmara University, School of Medicine, Istanbul, Turkey Abstract: Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion s...
Source: Application of Clinical Genetics - May 18, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
22q11 deletion syndrome
Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 17, 2015 Category: Genetics & Stem Cells Source Type: research
