Medical Genetics at a Glance by Pritchard, Dorian J.; Korf, Bruce R.;

Rövid leírás:

Medical Genetics at a Glance is a concise, well-illustrated and accessible genetics textbook. It follows the now familiar, easy-to-use, double page spread format of the
At a Glance series.

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Hosszú leírás:

Medical Genetics at a Glance is a concise, well-illustrated and accessible genetics textbook. It follows the now familiar, easy-to-use, double page spread format of the
At a Glance series. Each double page presents clear, memorable diagrams that illustrate essential information with accompanying text that covers key topics and issues in more detail.

Structured into three distinct sections, Medical Genetics at a Glance takes the student through developmental biology, medical genetics and the clinical application of genetics. The first section focuses on basic biological concepts such as cell and chromosome structure, molecular biology and the cell cycle, as well as human embryonic development and sexual maturation. The second section applies these principles to medicine through the essential 'laws' of inheritance, the chromosome anomalies, multifactorial inheritance, normal polymorphism and gene frequency, then moving on to gene mapping, mutagenesis, cancer and immunogenetics. The final section addresses the clinical application of the above principles in pedigree drawing and molecular diagnostic procedures based on the human gene map, PCR and Southern techniques, risk assessment, genetic counselling, gene therapy and much more.

Medical Genetics at a Glance is an ideal resource that fits the budget and reading time of medical students and those seeking a quick, thorough introduction to this fast moving field. It can be used as primary or supplementary reading in a lecture-based course and is perfect for exam preparation.

Medical Genetics at a Glance is a concise, well-illustrated and accessible genetics textbook. It follows the now familiar, easy-to-use, double page spread format of the
at a Glance series. Each double page presents clear, memorable diagrams that illustrate essential information.

Structured into three distinct sections, Medical Genetics at a Glance, takes the student through developmental biology, medical genetics and the clinical application of genetics. The first section focuses on basic biological concepts such as cell and chromosome structure, molecular biology and the cell cycle, as well as human embryonic development and sexual maturation. The second section applies these principles to medicine through the essential 'laws' of inheritance, the chromosome anomalies, multifactorial inheritance, normal polymorphism and gene frequency, then moving on to gene mapping, mutagenisis, cancer and immunogenetics. The final section addresses the clinical applications of these principles, incliding pedigree drawing and dysmorphology, prenatal sampling and biochemical diagnosis, diagnostic applications of cytogenetics and the human gene map, DNA sequencing, Southern blotting and PCR amplification, risk assessment and genetic counselling. DNA profiling, gene therapy, disease prevention and management.

Medical Genetics At A Glance is an ideal resource that fits the budget and reading time of medical students and those seeking a quick yet thorough, introduction to this fast moving field. It can be used as primary or supplementary reading in a lecture-based course and is perfect for exam preparation.

Pre-publication reviews

Here is a contemporary account of genetic science and its many applications that I have not found elsewhere Students of all ages complain to me that there is no accessible text that brings together all of this information in a concise form. Well their wait is over!

Specialist Registrar in Clinical Genetics, Nottingham

My congratulations to the authors!

PRHO, Aldershot

Post-Publication Reviews

NEW REVIEW -- PRITCHARD / Medical Genetics at a Glance. Blackwell Publishing, 2003, $24.95.

[AUTHOR]

Pritchard, Dorian J. , BSc, DIp Gen, PhD; Korf, Bruce R., MD, PhD

[BIBLIOGRAPHIC DATA]

ISBN: 0-632-06372-6, Series Title: At a Glance, 115 pages, soft cover.

[DOODY'S NOTES]

[REVIEWER'S EXPERT OPINION]

Ian Glass, MD, FRCP, FRACP, FACMG(University of Washington School of Medicine)

**Description**

This is an entirely new and very succinct general book summarizing genetics and its medical applications.

**Purpose**

It is primarily directed to medical students, whose time is limited, with the aim of providing a large volume of information in a study-friendly and exam-preparatory manner. This goal is beautifully achieved in an incredibly concise 100 pages of text and figures, based around three integrated sections describing, in turn, developmental biology, medical genetics, and clinical applications of genetics. The flow is deliberate. This book more than reaches its goals of providing a quick and efficient review of the subject because it is so invitingly concise and therefore intensely readable.

**Audience**

Although it might be considered redundant in a crowded marketplace for medical students, this book is extremely appealing and accessible and, indeed, other student groups may also avail themselves of it.

**Features**

The detail is greater than would be suggested from the page count alone. This is attained largely because the figures/illustrations in each chapter are superb. They are composed of beautiful and clear line drawings with pertinent interposed text. Each of the 48 chapters is composed of a simple but effective format -- a single page with a figure facing a single page of text. This format is disarmingly engaging to the reader, encouraging progression through an otherwise dense subject area. The text is very well written and easy to read. The figures live by the axiom, "a picture saves a thousand words," integrating very well with the text. The subheadings are helpful and the choice of clinical examples is appropriate, although necessarily brief. There is a good glossary and index.

**Assessment**

Although the presentation style may not appeal to all, the effective, succinct nature of the book will overcome any skepticism. Overall, this is an excellent, memorable book with a refreshing means of presentation.

Published Reviews of the 1st Edition

"The double page spread style has been attempted on numerous occasions by many different books, but I have not seen a book that does it as succesfully as this one. The pages don't look too daunting, even for a genetics book!

.as a supplementary text or moreover as a revision text, you could not imagine a more condensed text providing you with almost eveything you would want to know for your exams."

1st Year Medical Student, Liverpool Medical School
Sphincter, December 2003

"A clearly presented format and diagrams enables a wide range of practitioners, from students to those with an advanced interest, to gain a better understanding of a subject which will undoubtedly become more important in the coming years."

Micsum, Community Practitioner, January 2004

"The detail is greater than would be suggested fom the page count alone. This is attained largely because the figures/illustrations in each chapter are superb.

.The text is very well written and easy to read.

.Although the presentation style may not appeal to all, the effective, succinct nature of the book will overcome any skepticism. Overall, this is an excellent, memorable book with a refreshing means of presentation."

Ian Glass,MD,FRCP, FRACP, FACMG( University of Washington School Medicine), 13th August 2003

"This book is mainly addressed to individuals with a medically oriented background but is not inaccessible to all other readers. As a result it contains all the essential information needed in order to comprehend the aspects of this science. My personal opinion is that this book is quite easy to read, simply because it is separated into three main chapters and the concepts are delivered successfully to the reader with the aid of well labelled diagrams and figures including reliable statistics which put matters into perspective.

.this book is a well-written summation of all the key issues concerning medical genetics that would be worth adding to your collection of books."

GKT Gazette, January 2004

"My personal opinion is that this book is quite easy to read, simply because it is separated into three main chapters and the concepts are delivered successfully to the reader with the aid of well labelled diagrams and figures including reliable statistics which put matters into perspective.

...To conclude, this book is a well-written summation of all the key issues concerning medical genetics that would be worth adding to your collection of books."

Reviewer, BSc Molecular Biology, Guy's, King's, St. Thomas' Medical School
GKT Gazette, January 2004

"Thank goodness for this book...The strength is that it results in a very comprehensive book, which covers the theoretical aspects of preclinical medicine as well as highlighting the practical elements of genetics that are applied in clinical medicine.

...Fantastic if you are in a hurry, if you like to think in broad concepts and if you like your information packaged in pictorial form."

Oxford Medical School Gazette, vol. 54 (1)

"...for those that know some basics, and have been to genetics lectures and understood them a little...this book would add some more."

Medical Student, University of Bristol
Black Bag Freshers' Edition, Winter 2003

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Tartalomjegyzék:

Preface; Acknowledgements; Section I : Developmental Biology 1. Basic biology 2. The cell 3. The chromosomes 4. DNA structure 5. DNA replication 6. RNA structure 7. Production of messenger RNA 8. Protein synthesis 9. The cell cycle 10. Gametogenesis 11. Embryology
12. Sexual differentiation Section II: Medical Genetics 13. The place of genetics in medicine 14. Chromosomal aneuploidies 15. Chromosome structural abnormalities 16. Mendel s laws 17. Autosomal dominant inheritance 18. Autosomal recessive inheritance 19. Intermediate inheritance 20. Sex-related inheritance 21. Congenital abnormalities 22. Multifactorial threshold traits 23. The common disorders of adult life 24. Twin Studies 25. Normal polymorphism 26 Allele frequency 27. Genetic linkage and disease association 28. Gene Mapping 29. Mutagenesis and DNA repair 30. Mutations 31. The molecular biology of cancer 32. Familial cancers 33. Immunogenetics Section III: Clinical Genetics 34 Overview of clinical genetics 35. Pedigree drawing 36. Risk Assessment 37. Dysmorphology 38. Reproductive Genetic Counselling 39. Avoidance and prevention of disease 40. The management of genetic disease 41. Prenatal sampling 42. Biochemical diagnosis 43. Chromosome analysis 44. Linkage analysis 45. DNA sequencing 46. Southern Blotting 47. The polymerase chain reaction (PCR) 48. DNA profiling Appendix: Information resources & recommended reading Glossary Index

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