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"Human genetics Miscellanea."
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The violinist's thumb : and other lost tales of love, war, and genius, as written by our genetic code
\"In The Disappearing Spoon, bestselling author Sam Kean unlocked the mysteries of the periodic table. In THE VIOLINIST'S THUMB, he explores the wonders of the magical building block of life: DNA. There are genes to explain crazy cat ladies, why other people have no fingerprints, and why some people survive nuclear bombs. Genes illuminate everything from JFK's bronze skin (it wasn't a tan) to Einstein's genius. They prove that Neanderthals and humans bred thousands of years more recently than any of us would feel comfortable thinking. They can even allow some people, because of the exceptional flexibility of their thumbs and fingers, to become truly singular violinists. Kean's vibrant storytelling once again makes science entertaining, explaining human history and whimsy while showing how DNA will influence our species' future\"-- Provided by publisher.
Book
Genes, development, and cancer : the life and work of Edward B. Lewis
Edward B.Lewis' science is the bridge linking experimental genetics as conducted in the first half of the twentieth century, and the powerful molecular genetic approaches that revolutionized the field in its last quarter.
eBook
Genes, Development and Cancer
While Edward B. (‘Ed’) Lewis is famous for his contributions to genetics anddev- opmental biology y, few have read his research papers. One reason for this is availability, man ny having been published in obscure journalsor as book chapters. A second is because his papers in those ?elds are very dif?cult to read. The dif?culty derives from the fact that Lewis has published infrequently, thus manypapers are condensed reviews of man nyyears’ work presented largely in summary form rather than in detail. It is not unusual for the reader to have to infer the experimental methods, even the results, from a few sentences. Furthermore, he often presents his results in terms of abstract models; thus it can be dif?cult to separate the data from the models. Ama ajor goal of this book is to make Lewis’ keypapers accessible to researchers and students. The papers are grouped into several sections that re?ect the changing focus of his research. Each section is preceded by commentary designed to place the papers in historical perspective, with respect to Lewis’ own ideas as well as to those of the larger scienti?c community. The commentaries attempt to highlight the key methods and results—as well as the signi?cance—of each paper by explaining the science in terms that should be understandable to upper-level undergraduates, graduate students and professional researchers.
eBook
Severe aortic regurgitation in Ehlers-Danlos syndrome type IV
Since type III collagen is crucial for the development of such organs as the cardiovascular system, intestine, and skin this disorder is clinically characterised by a vulnerable, translucent skin and by premature death from vascular and bowel rupture.
Journal Article
Different presentation of hypertrophic cardiomyopathy in monozygotic twins
There was severe inducible left ventricular (LV) outflow tract obstruction (gradient > 70 mm Hg, post-intravenous dobutamine infusion).
Journal Article
Homozygous familial hyperlipidaemia presenting as severe aortic stenosis and unstable angina
Sagittal view of the aorta-note calcified atherosclerotic plaques extending from the aortic root upwards in the ascending thoracic aorta, arch and descending aorta, with plaques shown in panels B and C. Three dimensional reconstruction of image A-anterior view of the ascending aorta.
Journal Article
Postextrasystolic “T wave hump” augmentation as a marker of increased arrhythmogenic risk in the long QT syndrome
The ECG showed a prolonged QT interval of nearly 600 ms. The subsequent investigation of her family revealed three sisters, the mother, and one nephew (upper panel) with a history of syncope and prolongation of the QT interval.
Journal Article
