Medical Genetics E-BookElsevier Health Sciences, 12/08/2015 - 368 من الصفحات Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text.More than 230 photographs , illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance.Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses.Self-assessment study questions aid in retention and review of key material. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. |
المحتوى
1 Background and History | 1 |
4 Autosomal Dominant and Recessive Inheritance | 60 |
5 SexLinked and Nontraditional Modes of Inheritance | 79 |
8 DiseaseGene Identification | 154 |
9 Immunogenetics | 180 |
10 Genetic Basis of Development | 197 |
11 Cancer Genetics | 217 |
12 Multifactorial Inheritance and Common Diseases | 239 |
13 Genetic Testing and Gene Therapy | 265 |
14 Genetics and Precision Medicine | 292 |
15 Clinical Genetics and Genetic Counseling | 301 |
Glossary | 321 |
Answers to Study Questions | 332 |
| 342 | |
Inside Back Cover | 359 |
طبعات أخرى - عرض جميع المقتطفات
عبارات ومصطلحات مألوفة
abnormalities affected allele altered amino acid antibodies antigen approximately autosomal dominant autosomal recessive bind blood breast cancer carrier caused by mutations Chapter chromo chromosome CLINICAL COMMENTARY common congenital copies defects deficiency deletion diabetes diagnosis disease-causing mutation disorders DNA sequence dystrophy enzyme example Exon females fetal frequency gene product gene therapy genes that encode genetic counseling genetic disease genome genotype germline hemophilia heterozygotes heterozygous homozygotes human hybridization identified immune system inactivation increased individual inherited karyotype kinase linkage located loci locus males malformations Marfan syndrome marker medical genetics meiosis metabolism microarray molecular mRNA multifactorial multiple muta mutations normal nucleotide occur offspring parents pathway patients pedigree persons phenotype polymorphisms population prenatal probability produce protein protein product receptor recombination recurrence risk region result screening somatic cells specific studies syndrome T-cell tion tissue trait transcription factors translocation trisomy tumor suppressor twins variation X chromosome X-linked