GENETICA MEDICA JORDE CAREY PDF

Caroline Dias flag Denunciar. Jorde, PhD Professor H. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher.

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Caroline Dias flag Denunciar. Jorde, PhD Professor H. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher.

Notice Knowledge and best practice in this field are constantly changing. As new research and experience broaden our knowledge, changes in practice, treatment, and drug therapy may become necessary or appropriate. Readers are advised to check the most current information provided i on procedures featured or ii by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications.

It is the responsibility of the practitioner, relying on his or her experience and knowledge of the patient, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all appropriate safety precautions. Jorde, John C. Carey, Michael J. Includes bibliographical references. ISBN 1. Medical genetics. Carey, John C. Bamshad, Michael J.

Genetic Services. Genetic Techniques. QZ 50 J82m ] RB J67 More than years ago scientists such as Buffon, Lamarck, Goethe, and Kielmeyer reflected on how the developmental history of each organism related to the history of life on Earth. Based on these ideas, the discipline of biology was born in 18th century Eur- ope, enjoyed adolescence as morphology and comparative anatomy in the 19th century, and reached adulthood in the 20th century as the field of genetics.

However, the late 19th century definition of genetics heredity as the science of vari- ation and its causes is still valid. Thus, human genetics is the science of human variation, medical genetics the science of abnormal human variation, and clinical genetics that branch of medicine that cares for individuals and families with abnor- mal variation of structure and function.

In the late 19th and early 20th centuries, the unity of morphology-based sciencewas gradually replaced by a pluralistic view of biology that splintered the field into many different, and often rivalrous, disciplines.

However, thanks to the application of novel molecular biological methods to the analysis of develop- ment and to the understanding of the materials of heredity i. This new discipline, termed molecular morphology, may be defined as the study of the form, formation, transformation, and malfor- mation of living organisms.

Indeed, ignorant as they may be of the traditionalmethods of historiography, geneticists have devel- oped their own brilliant and highly effective methods. Conse- quently, they have achieved a perspective remarkably longer and much better documented than that of historians. This nearly 4-billion-year perspective unites living organisms into a single web of life related to one another in unbroken descent to a com- mon ancestor. Thismakes the phylogenetic i. Thus, it is now possible to effectively explore a key question of biology of the 19th and 20th centuries: What is the relationship between evolution and development?

Here, an outstanding group of scientists performed pioneering studies on clefts of lips and palate, muscular dystrophy, albinism, deafness, hereditary polyposis of the colon Gardner syn- drome , and familial breast cancer.

These predecessors would be enormously proud of their current peers at the University of Utah, whose successes have advanced knowl- edge in every aspect of the field of genetics. In their attempts to synthesize the story of genetics and its applications to human variability, health and disease, development, and cancer, the authors of this text have suc- ceeded admirably.

This concise, well-written and -illustrated, carefully edited and indexed book is highly recommended to undergraduate students, new graduate students, medical stu- dents, genetic counseling students, nursing students, and stu- dents in the allied health sciences. Importantly, it is also a wonderful text for practicing physicians primary care pro- viders and specialists who want an authoritative introduc- tion to the basis and principles of modern genetics as applied to human health and development.

This text, by dis- tinguished and internationally respected colleagues and friends who love to teach, is a joy to read in its expression of enthusiasm and of wonder, which Aristotle said was the beginning of all knowledge. Indeed, some scientists, such as Goldschmidt, cast doubt on the very existence of the gene, although the great American biologist E. Wilson had pre- dicted its chemical nature more than years previously.

In this text, genes and their function in health and disease are made comprehensible in a manner that should have wide appeal to all.

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