By Roger N. Rosenberg, Juan M. Pascual
Rosenberg’s Molecular and Genetic foundation of Neurologic and Psychiatric Disease,Fifth Edition presents a entire creation and connection with the rules and key useful elements proper to nearly all of neurologic and psychiatric affliction. a favourite of over 3 generations of scholars, clinicians and students, this re-creation keeps and expands the informative, concise and important tone of the 1st version. this is often an important reference for basic scientific practitioners, neurologists, psychiatrists, geneticists, and similar pros, and for the neuroscience and neurology examine neighborhood. The content material covers all elements necessary to the perform of neurogenetics to notify scientific prognosis, therapy and genetic counseling. each bankruptcy has been completely revised or newly commissioned to mirror the newest clinical and clinical advances by way of a world group of best scientists and clinicians. The contents were improved to incorporate problems for which a genetic foundation has been lately pointed out, including plentiful unique illustrations that show and make clear the most important issues of the textual content in an enticing, didactic format.
Previous versions have proven this publication because the top educational reference on neurogenetics. Researchers will locate nice price within the insurance of genomics, animal versions and diagnostic tools besides a greater realizing of the medical implications. Clinicians will depend on the insurance of the elemental technology of neurogenetics and the tools for comparing sufferers with biochemical abnormalities or gene mutations, together with hyperlinks to genetic checking out for particular diseases.
* accomplished assurance of the neurogenetic origin of neurological and psychiatric disease.
* specific creation to either scientific and uncomplicated learn implications of molecular and genetic knowing of the brain.
* precise assurance of genomics, animal types and diagnostic equipment with new insurance of comparing sufferers with biochemical abnormalities or gene mutations.
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Additional resources for Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition
Nature. 2010;467(7319):1061–1073. 102. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56–65. 103. Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science. 2004;305(5683):525–528. 104. Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004;36(9):949–951. 105. Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease.
Probably the most immediate applicability of genomic sequencing in clinical practice, in addition to reaching an accurate genetic diagnosis, is in the field of pharmacogenomics. 5 million SNVs and ~ 1000 CNVs on average in any given human diploid genome. Multiple bioinformatic prediction tools are available to aid in discerning deleterious from benign variation, based on parameters such as the conservation of an amino acid at a particular location across species and the biochemical properties of the reference versus variant amino acid.
2000;34:297–329. Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet. 1998;62(5):1023–1033. Myers S, Freeman C, Auton A, Donnelly P, McVean G. A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet. 2008;40(9):1124–1129. Lupski JR. Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Fifth Edition by Roger N. Rosenberg, Juan M. Pascual