Xem 1-20 trên 235 kết quả Medical genetics
  • Learners enrolled in all healthcare training programs need to have a basic understanding of medical genetics so that they can successfully transition from students to clinicians. The field of medical genetics is advancing at a fast pace and is becoming increasingly integral to all aspects of medicine. This fact emphasizes the need for every practicing clinician and faculty member to develop an in-depth knowledge of the principles of human genetics, given that they are applicable to such a wide variety of clinical presentations.

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  • (BQ) Part 1 book "Medical genetics at a glance" presents the following contents: Overview, the Mendelian approach, basic cell biology, basic molecular biology, genetic variation, organization of the human genome, cytogenetics.

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  • (BQ) Part 2 book "Medical genetics at a glance" presents the following contents: Embryology and congenital abnormalities, multifactorial inheritance and twin studies, cancer, biochemical genetics, immunogenetics, molecular diagnosis, genetic counselling, disease management, ethical and social issues.

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  • Readable, well organized, and easy to use, this outstanding encyclopedia signifies a timely and major advance in providing in-depth and comprehensive coverage of medical genetics for the lay reader. The two volumes include nearly 400 substantive entries on genetic diseases and conditions as well as information on basic genetics concepts such as DNA, chromosomes, genetic testing, and pedigree analysis and construction (genetic family history).

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  • Harrison's Internal Medicine Chapter 64. The Practice of Genetics in Clinical Medicine Implications of Molecular Genetics for Internal Medicine The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

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  • The speciality of medical genetics is concerned with the study of human biological variation and its relationship to health and disease. It encompasses mechanisms of inheritance, cytogenetics, molecular genetics and biochemical genetics as well as formal, statistical and population genetics. Clinical genetics is the branch of the specialty involved with the diagnosis and management of genetic disorders affecting individuals and their families.

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  • This is a book about medical genomics, a new field that is attempting to combine knowledge generated from the Human Genome Project (HGP) and analytic methods from bioinformatics with the practice of medicine. From my perspective as a research molecular biologist, genomics has emerged as a result of automated high-throughput technologies entering the molecular biology laboratory and of bioinformatics being used to process the data.

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  • The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

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  • For the Seventh Edition of this text, the title has been changed to Kistner's Gynecology and Women's Health (from Kistner's Gynecology) to recognize the broad scope and expanded interest in the field of women's health care. Although over the past 35 years, previous editions of Kistner have appealed largely to students, trainees, and practitioners in gynecology, this new edition should be useful not only for gynecologists but for internists, family practitioners, and women's health specialists who are devoting more of their time and effort to women's medical issues.

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  • Population Screening Mass genetic screening programs require tests of high enough sensitivity and specificity to be cost-effective. An effective screening program should fulfill the following criteria: that the tested disorder is prevalent and serious; that it can be influenced presymptomatically through lifestyle changes, screening, or medications; and that identification of risk does not result in undue discrimination or harm.

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  • Follow-Up Care after Testing Depending on the nature of the genetic disorder, posttest interventions may include (1) cautious surveillance and appropriate health care screening, (2) specific medical interventions, (3) chemoprevention, (4) risk avoidance, and (5) referral to support services. For example, patients with known pathologic mutations in BRCA1 or BRCA2 are offered intensive screening as well as the option of prophylactic mastectomy and oophorectomy.

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  • Recall of family history is often inaccurate. This is especially so when the history is remote and families become more dispersed geographically. It can be helpful to ask patients to fill out family history forms before or after their visits, as this provides them with an opportunity to contact relatives. Attempts should be made to confirm the illnesses reported in the family history before making important and, in certain circumstances, irreversible management decisions.

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  • Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease and the practice of clinical genetics has been significantly altered by this new knowledge....

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  • (BQ) Part 1 book "Guyton and hall: Textbook of medical physiology" presents the following contents: Functional organization of the human body and control of the “internal environment”; the cell and its functions, genetic control of protein synthesis, cell function, and cell reproduction,... Invite you to consult.

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  • Harrison's Internal Medicine Chapter 62. Principles of Human Genetics Impact of Genetics on Medical Practice Impact of Genetics on Medical Practice: Introduction The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technological advances.

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  • (BQ) Part 2 book "USMLE road map - Genetics" presents the following contents: Mitochondrial dysfunction, congenital changes, congenital changes, genetics and cancer, genetics and common diseases, pharmacogenetics, genetics and medical practice.

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  • Tuyển tập các báo cáo nghiên cứu khoa học ngành y học tạp chí Medical Sciences dành cho các bạn sinh viên ngành y tham khảo đề tài: Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: A meta-analysis...

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  • Tuyển tập các báo cáo nghiên cứu khoa học ngành y học tạp chí Medical Sciences dành cho các bạn sinh viên ngành y tham khảo đề tài: Genetic polymorphism of p53, but not GSTP1, is association with susceptibility to esophageal cancer risk – A Meta-Analysis...

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  • The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technological advances. They include, among others, the elucidation of the DNA double-helix structure, the discovery of restriction enzymes and the polymerase chain reaction (PCR), the development and automatization of DNA sequencing, and the generation of genetic and physical maps by the Human Genome Project (HGP).

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  • Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1⁄KRIT1, CCM2⁄MGC4607and CCM3⁄PDCD10. Almost 80% of CCM patients affected with a genetic form of the disease harbor a heterozygous germline mutation in one of these three genes.

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