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In his 2006 State of the Union speech, President George W. Bush asked the U.S. Congress to prohibit the ""most egregious abuses of medical research,"" such as the ""creation of animal-human hybrids."" The president's message echoed that of a 2004 report by the President's Council on Bioethics, which recommended that hybrid human-animal embryos be banned by Congress.Discussions of early interspecies research, in which cells or DNA are interchanged between humans and nonhumans at early stages of development, can often devolve into sweeping statements, colorful imagery, and confusing policy. Alth

Mosaicism --- Transgenic animals --- Research --- Government policy

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This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians. .

Paediatrics --- Human genetics --- Pathological dermatology --- Neuropathology --- Ophthalmology --- medische genetica --- hersenen --- dermatologie --- pediatrie --- oftalmologie --- Skin --- Mosaicism. --- Skin Neoplasms. --- Skin Diseases. --- Nevus. --- Diseases.

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Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome, females have two X chromosomes in every cell. Much has been written about the Y chromosome and its role in inducing maleness. This is the only book about the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease. This new edition reflects research advances from the six years since the widely praised first edition. New advances include knowledge of species

Mosaicism. --- X chromosome --- Genetic disorders. --- Sex factors in disease. --- Diseases --- Pathology --- Sex differences --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics --- Sex chromosome abnormalities --- Chromosomal mosaicism --- Chromosome mosaics --- Mosaics (Genetics) --- Mosaics, Chromosome --- Genetics --- Abnormalities. --- Sex factors

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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.

retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome

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National, European and international concepts and strategies concerning the legal and ethical framework of chimera and hybrid research are still largely missing, even though they are absolutely necessary in order to use the potential of chimera and hybrid research effectively and efficiently for the benefit of science and society. The outcome of the CHIMBRIDS-Project successfully sheds light on the chances and risks of this research and provides legal solutions to existing problems in order to help decision-makers fulfil their tasks in an informed and efficient manner. This comprehensive volume details the complete results, contributed by 40 scholars from 10 member states of the European Union, Canada, China, Israel, Japan, Switzerland and the US, with descriptive reports of the legal situation in specific countries and in-depth analysis of all scientific, medical, ethical and legal implications of chimera and hybrid research.

CHIMBRIDS-project. --- Genetic engineering --Research. --- Mosaicism --Research. --- Transgenic animals --Research. --- Mosaicism --- Transgenic animals --- Genetic engineering --- Internationality --- Animals, Genetically Modified --- Chimera --- Ethics, Research --- Biomedical Research --- Genetic Engineering --- Research --- Ethics --- Organism Forms --- Plants --- Organisms, Genetically Modified --- Animal Population Groups --- Genetic Techniques --- Social Sciences --- Humanities --- Investigative Techniques --- Animals --- Science --- Health Care Quality, Access, and Evaluation --- Eukaryota --- Anthropology, Education, Sociology and Social Phenomena --- Organisms --- Natural Science Disciplines --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Health Care --- Disciplines and Occupations --- Genetics --- Sciences - General --- Law, General & Comparative --- Law, Politics & Government --- Physical Sciences & Mathematics --- Biology --- Health & Biological Sciences --- Chimeras (Botany) --- Transgenic animals. --- Moral and ethical aspects. --- Chimeras, Plant --- Plant chimaeras --- Plant chimeras --- Research ethics --- Chimeras and Hybrids in Comparative European and International Research (project) --- Law. --- Ethics. --- Transgenic organisms. --- Law --- Private international law. --- Conflict of laws. --- International law. --- Comparative law. --- Medical laws and legislation. --- Private International Law, International & Foreign Law, Comparative Law. --- Medical Law. --- Theories of Law, Philosophy of Law, Legal History. --- Transgenics. --- Philosophy. --- Law, Medical --- Medical personnel --- Medical registration and examination --- Medicine --- Physicians --- Surgeons --- Medical policy --- Medical jurisprudence --- Comparative jurisprudence --- Comparative legislation --- Jurisprudence, Comparative --- Law, Comparative --- Legislation, Comparative --- Law of nations --- Nations, Law of --- Public international law --- Choice of law --- Conflict of laws --- Intermunicipal law --- International law, Private --- International private law --- Private international law --- Legal polycentricity --- Jurisprudence --- Genetically engineered organisms --- Genetically modified organisms --- GEOs (Genetically engineered organisms) --- GMOs (Genetically modified organisms) --- Deontology --- Ethics, Primitive --- Ethology --- Moral philosophy --- Morality --- Morals --- Philosophy, Moral --- Science, Moral --- Philosophy --- Values --- Acts, Legislative --- Enactments, Legislative --- Laws (Statutes) --- Legislative acts --- Legislative enactments --- Legislation --- Legal status, laws, etc. --- Law and legislation --- Civil law --- Transgenic organisms --- Animal genetic engineering --- Botany --- Chimerism --- Plant genetics --- Public health laws. --- Private International Law, International & Foreign Law, Comparative Law . --- Communicable diseases --- Public health --- Medical laws and legislation --- Law—Philosophy. --- Europäische Union --- Mensch --- Chimäre --- Tiere --- Medizinische Ethik --- Recht. --- Hybride