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ISBN: 0195093054 Year: 1997 Publisher: Oxford : Oxford university press,
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ISBN: 1107145783 1280202890 9786610202898 0511198906 0511125577 0511125925 0511299729 0511544103 0511125062 Year: 2005 Publisher: Cambridge : Cambridge University Press,
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Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.
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Year: 2017 Publisher: Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health,
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Year: 2006 Publisher: Washington, D.C. : Genetic Alliance,
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ISBN: 1108657958 1108695078 1139680293 Year: 2020 Publisher: Cambridge, United Kingdon ; New York, NY: Cambridge University Press,
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The birthplace of modern humans, Africa, has the highest genetic diversity in the world, yet it remains vastly understudied. With biomedical research increasingly focused on human variation, studying the large population size and number of mutations in African genomes could unravel the complexity of phenotypic traits underlying the biology of our species and hold huge potential for scientific and medical advances. An initial chapter 'conceptualizes Africa', providing relevant terminology. The first section covers genetic history and population structure. The next section looks at the genetic basis of common infectious diseases, such as leishmaniasis, malaria and tuberculosis, with a final part considering common non-communicable diseases, such as diabetes, hypertension, obesity, heart disease and cancer. Gene environment interaction under globalization and the burden of diseases of lifestyle are included. For researchers and graduate students in biological anthropology, genetic anthropology, human and population genetics, and public health.
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Year: 2006 Publisher: Washington, D.C. : Genetic Alliance,
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Year: 2017 Publisher: Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health,
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ISBN: 9781608316717 9781451164671 Year: 2012 Publisher: Philadelphia : Wolters Kluwer
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Human Genetics: From Molecules to Medicine provides balanced coverage of molecular and clinical genetics for the preclinical medical student with relevant examples of the application of basic science to clinical medicine. With its unique, systems-based approach ideal for integrated curricula, the text guides students through their genetics, pediatrics, and medicine rotations and will also be helpful as a pocket resource for residents in pediatrics, internal medicine, family medicine, and obstetrics. Content has been carefully adapted from the critically acclaimed German text for the English language audience.
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ISBN: 1635506573 9781635506570 9781635502909 163550290X Year: 2021 Publisher: San Diego, CA
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"CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech"--
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ISBN: 3112574303 Year: 2022 Publisher: Berlin ; Boston : De Gruyter,
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