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This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed.; X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.

X-linked mental retardation --- Sex Chromosome Disorders --- X Chromosome --- Genetic Diseases, Inborn --- Sex Chromosomes --- Chromosome Disorders --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Chromosomes --- Diseases --- Congenital Abnormalities --- Cellular Structures --- Genetic Structures --- Genetic Phenomena --- Cells --- Anatomy --- X-linked Intellectual disability

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Genomics --- Human genome --- Genomics. --- Human genome. --- Genome, Human. --- Human Genome --- Genomes, Human --- Human Genomes --- Genome research --- Genomes --- Research --- Genome --- Genome, Human --- Human chromosomes --- Molecular genetics --- Genes --- Proteome --- Genome.

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575 --- Genetica (erfelijkheidsleer) --- Genetica --- General genetics. General cytogenetics. Immunogenetics. Evolution. Speciation. Phylogeny --- 575 General genetics. General cytogenetics. Immunogenetics. Evolution. Speciation. Phylogeny --- Genetics --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Genetics.

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Genetics --- Genetic Techniques --- Génétique --- Periodicals --- Technique --- Périodiques --- Genetic Techniques. --- Genetics. --- Genetics & Genomics. --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- methods --- genetics --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Genetic Structures --- Genetic Phenomena --- Genetic Counseling

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It is now clear that neuropeptide Y (NPY), the most abundant peptide present in the mammalian nervous system, is implicated in the pathophysiology of many diseases, including eating disorders, seizures, memory loss, anxiety, depression, and cardiovascular diseases, and offers major therapeutic opportunities for their treatment. In Neuropeptide Y Protocols, a strong cohort of established investigators from a variety of disciplines detail their best techniques for advancing NPY research. Among the many readily reproducible methods described are those for cloning, for the production of transgenic and knockout models, and for the use of antisense technology to define the receptors and the signal transduction pathways mediating NPY actions. A range of the major qualitative and quantitative techniques used to study tissue mRNA distribution are also included, as well as methods for radioligand binding. The cloning techniques utilize genomic DNA isolation, expression cloning, PCR cloning, the construction of hybrid receptors, and homology-based cloning. Highly practical and state-of-the-art, Neuropeptide Y Protocols constitutes a gold-standard collection of proven techniques for advancing today's understanding of this significant neuropeptide, as well as for developing the promising NPY-based therapeutics now emerging for many important disorders.

Electronic books. -- local. --- Genetics -- Laboratory manuals. --- Neuropeptide Y -- Laboratory manuals. --- Neuropeptide Y --- Neuropeptides --- Peptides --- Nerve Tissue Proteins --- Amino Acids, Peptides, and Proteins --- Proteins --- Chemicals and Drugs --- Animal Biochemistry --- Human Anatomy & Physiology --- Health & Biological Sciences --- Genetics --- Neuropeptide tyrosine --- NPY (Neuropeptide) --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Neurosciences. --- Neural sciences --- Neurological sciences --- Neuroscience --- Medical sciences --- Nervous system