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Molecular Cytogenetics
The new techniques of molecular cytogenetics, mainly fluorescence in situ hybridization (FISH) of DNA probes to metaphase chromosomes or interphase nuclei, have been developed in the past two decades. Many FISH techniques have been implemented for diagnostic services, whereas some others are mainly used for investigational purposes. Several hundreds of FISH probes and hybridization kits are now commercially available, and the list is growing rapidly. FISH has been widely used as a powerful diagnostic tool in many areas of medicine including pediatrics, medical genetics, maternal–fetal medicine, reproductive medicine, pathology, hematology, and oncology. Frequently, a physician may be puzzl...
Perinatal Genetics
Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It's an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. - Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. - Contains a chapter on fetal treatment of genetic disorders. - Consolidates today's available information and experience in this important area into one convenient resource.
Human Reproductive and Prenatal Genetics
**Selected for Doody's Core Titles® 2024 in Clinical Genetics**Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal ge...
Genetic Disorders and the Fetus
Explore the latest edition of the definitive resource on prenatal genetic diagnosis In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world. In addition to fundamental information on establish...
The Drama of DNA
Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, pedagogical approach shines a unique light on the ethical, psychosocial, and policy challenges that emerge as comprehensive sequencing of the human genome transitions from research to clinical medicine. Narrative genomics aims to enhance understanding of how we evaluate, process, and share genomic information, and to cultivate a deeper appreciation for difficult decisions encountered by health care professionals, bioethicists, families, and society as this technology reaches the bedside. This innovative book includes both original genomic plays and theatrical excerpts that illuminate the implications of genomic information and emerging technologies for physicians, scientists, counselors, patients, blood relatives, and society. In addition to the plays, the authors provide an analytical foundation to frame the many challenges that often arise.
Chromosome Abnormalities and Genetic Counseling
Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Imperfect Pregnancies
Introduction : scrutinized fetuses -- Born imperfect : birth defects before prenatal diagnosis -- Karyotypes -- Human malformations -- From prenatal diagnosis to prenatal screening -- Sex chromosome aneuploidies -- PND and new genomics approaches -- Conclusion : PND's slippery slopes, imagined and real
Molecular Genetic Pathology
This volume presents a useful and up-to-date handbook containing information relevant to the clinical practice of molecular genetic pathology. It features organized, detailed text on specific molecular genetic techniques. The volume provides a unique reference for the practicing pathologist and medical geneticist, as well as a review book for residents and fellows in training in pathology, medical genetics and molecular genetic pathology.
Teaching Tomorrow's Medicine Today
ContentsPreface and Acknowledgments PART I1 The History of the School 2 The Curriculum 3 The Graduate School of Biological Sciences PART II4 The Basic Sciences 5 The Centers and Institutes 6 The Department of Community and Preventive Medicine 7 The Department of Human Genetics 8 The Department of Health Policy 9 Graduate and Postgraduate Education Part III10 The Faculty Practice Plan 11 The Mount Sinai Alumni 12 Student Voices: In Their Own WordsAppendixes A. Saul Horowitz, Jr. Memorial Award Recipients B. Honorary Degree Recipients C. The Mount Sinai Leadership D. The Mount Sinai Boards of Trustees, 2003 Notes Index About the Authors
Fetal Medicine E-Book
Covering pertinent basic science and offering today's most authoritative guidance on clinical management, Fetal Medicine, 3rd Edition, is a must-have resource for obstetricians and other healthcare professionals involved in care of the fetus. An international team of expert contributors delivers the knowledge and background you need to effectively diagnose and treat fetal disorders – everything from prenatal screening and diagnostic tests to common and rare prenatal conditions, early pregnancy loss, ethical issues, and much more. - Focuses on fetal medicine throughout, bringing you today's most reliable information in both basic science and clinical topics. - Offers updated information fro...
