Medical Molecular Genetics is one of eight books in the Integrated Medical Sciences (IMS) Series from Fence Creek Publishing. Designed for first- and second-year medical students, they are ideal for use as textbooks, course supplements, or board preparation. The books in the IMS Series focus on the integration of core biomedical concepts and provide insights into the application of basic principles and processes to clinical medicine.

Molecular biology is a merger between biochemistry and genetics that undertakes the study of the molecular fundamentals of metabolism of the genetic material (i.e.: replication, the transcription and translation and its manipulation for the benefit of life). Molecular biology is the molecular three-dimensional structural studying approach of biology as reflected on genesis and function to search below the large-scale manifestations of classical biology. The recent merge of molecular biology and computer science developed bioinformatics and computational biology. The study of gene structure and function, i.e., molecular genetics, is amongst the most prominent sub-field of molecular biology. This book highlights the rationale behind most of the related diseases afflicting the nuclear and the mitochondrial genetic systems for specific prevention and/or intervention.

Molecular Medicine is the application of genetic or DNA-based knowledge to the modern practice of medicine. Molecular Medicine, 4e, provides contemporary insights into how the genetic revolution is influencing medical thinking and practice. The new edition includes recent changes in personalized medicine, new growth in omics and direct-to-consumer DNA testing, while focusing on advances in the Human Genome project and implications of the advances in clinical medicine. Graduate students, researchers, clinicians and allied health professionals will appreciate the background history and clinical application of up-to-date molecular advances. Extensively revised to incorporate the results of the Human Genome Project, it provides the latest developments in molecular medicine The only book in Molecular Medicine to reach its fourth edition Identifies current practice as well as future developments Presents extensive tables, well presented figures and resources for further understanding

An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG). It provides residents and fellows in genetics and genomics with over 1,000 concise questions, ranging from topics in cystic fibrosis, to genetic counseling, to trinucleotide repeat expansion disorders. It puts key points in the form of questions, thus challenging the reader to retain knowledge. As board and certificate exams require knowledge of new technologies and applications, this book helps users meet that challenge. Includes over 1,0000 multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics Designed to assist clinical molecular genetic fellows, genetic counselors, medical genetic residents and fellows, and molecular pathologist residents in preparing for their certification exam Assists trainees on how to follow guidelines and put them in practice