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Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including Alzheimer disease; Cystic fibrosis; Lipoprotein lipase deficiency, Familial; and Polycystic kidney diseases. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

Building Up a High-throughput Screening Platform to Assess the Heterogeneity of HER2 Gene Amplification in Breast Cancers

1Division of Pathology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 2School of Medicine, University of Milan, 3School of Biology, University of Pavia, 4Division of Breast Surgery, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, 5Division of Medical Oncology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, 6Department of Biomedical, Surgical, and Dental Sciences, University of Milan

Video Coming Soon

JoVE 56686


 JoVE In-Press

Modeling Astrocytoma Pathogenesis In Vitro and In Vivo Using Cortical Astrocytes or Neural Stem Cells from Conditional, Genetically Engineered Mice

1Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, 2Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, 3Division of Neuropathology, Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, 4Curriculum in Genetics and Molecular Biology, University of North Carolina School of Medicine, 5Biological and Biomedical Sciences Program, University of North Carolina School of Medicine, 6Department of Radiation Oncology, Emory University School of Medicine, 7Department of Neurology, Neurosciences Center, University of North Carolina School of Medicine

JoVE 51763


 Neuroscience

Detection of Copy Number Alterations Using Single Cell Sequencing

1Koch Institute for Integrative Cancer Research, Department of Biology, Massachusetts Institute of Technology, 2Howard Hughes Medical Institute, 3Division of Health Sciences and Technology, Harvard Medical School, 4The Barbara K. Ostrom (1978) Bioinformatics and Computing Facility in the Swanson Biotechnology Center, Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, 5BioMicro Center, Department of Biology, Massachusetts Institute of Technology

JoVE 55143


 Genetics

Transplantation of Zebrafish Pediatric Brain Tumors into Immune-competent Hosts for Long-term Study of Tumor Cell Behavior and Drug Response

1Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah School of Medicine, 2Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City

JoVE 55712


 Cancer Research

The Use of Reverse Phase Protein Arrays (RPPA) to Explore Protein Expression Variation within Individual Renal Cell Cancers

1Edinburgh Urological Cancer Group, University of Edinburgh, 2School of Medicine, University of St Andrews, 3Division of Pathology, University of Edinburgh, 4MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, 5Department of Pathology, Western General Hospital, 6Breakthrough Breast Cancer Research Unit, University of Edinburgh, 7St Bartholomew's Cancer Institute, Experimental Cancer Medicine Centre, Queen Mary University of London

JoVE 50221


 Medicine

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and in Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

1Department of Neuroscience, Pharmacology and Child Health, University of Florence, 2INSERM, INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire, INMED, 5Department of Neurology, Royal Children's Hospital, 6Murdoch Children's Research Institute, 7Department of Paediatrics, University of Melbourne, 8Plateforme postgenomique INMED, 9Department Molecular Medicine, University of Pavia, 10NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, 11Department of Clinical Genetics, Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Department of Pathology and Cell Biology, Columbia University

Video Coming Soon

JoVE 53570


 JoVE In-Press

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

1Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, 2Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3Abramson Cancer Center

JoVE 52758


 Cancer Research

Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease

1Institute of Imaging Science, Vanderbilt University, 2Department of Radiology and Radiological Sciences, Vanderbilt University, 3Department of Biomedical Engineering, Vanderbilt University, 4Department of Molecular Physiology and Biophysics, Vanderbilt University, 5Department of Physical Medicine and Rehabilitation, Vanderbilt University, 6Department of Physics and Astronomy, Vanderbilt University

JoVE 52352


 Medicine

In Situ Mapping of the Mechanical Properties of Biofilms by Particle-tracking Microrheology

1Interdisciplinary Graduate School, Nanyang Technological University, 2Singapore Centre on Environmental Life Sciences Engineering, Nanyang Technological University, 3School of Biological Sciences, Nanyang Technological University, 4Centre for Marine Bio-Innovation, University of New South Wales, 5School of Biological, Earth and Environmental Sciences, University of New South Wales, 6School of Biotechnology and Biomolecular Sciences Sciences, University of New South Wales

JoVE 53093


 Bioengineering

Establishment of Cancer Stem Cell Cultures from Human Conventional Osteosarcoma

1Department of Surgery and Translational Medicine (DCMT), University of Florence, 2Neurofarba Department, University of Florence, 3Department of Traumatology and General Orthopedics, Azienda Ospedaliera Universitaria Careggi

JoVE 53884


 Cancer Research

Detection of the Genome and Transcripts of a Persistent DNA Virus in Neuronal Tissues by Fluorescent In situ Hybridization Combined with Immunostaining

1Virus and Centromere Team, Centre de Génétique et Physiologie Moléculaire et Cellulaire, CNRS UMR 5534, 2Université de Lyon 1, 3Laboratoire d'excellence, LabEX DEVweCAN, 4Institut de Virologie Moléculaire et Structurale, CNRS UPR 3296, 5Centre de Recherche en Cancérologie de Lyon, INSERM U1052, CNRS UMR 5286

JoVE 51091


 Neuroscience

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