Thomas Liehr Livres

Exploring the complexities of chromosomal imbalances, this book delves into both benign and pathological variations, highlighting their implications for human health. It provides a comprehensive analysis of genetic factors, diagnostic techniques, and the clinical significance of these imbalances. With contributions from leading experts, the text serves as an essential resource for geneticists, researchers, and clinicians seeking to understand the nuances of chromosomal abnormalities and their impact on disease and development.

Focusing on genetic diagnostics and counseling related to prenatal and fertility issues, this groundbreaking book provides a unique blend of theoretical insights and numerous case studies. It highlights the latest research on structurally abnormal chromosomes (sSMCs), making it an essential resource for professionals in the field.

Focusing on the fundamentals of human genetics, this book covers essential topics such as inheritance patterns, genetic variation, and the role of genes in health and disease. It delves into modern techniques used in genetic research and their implications for medicine and ethics. The text is designed to provide readers with a comprehensive understanding of how genetics influences human biology and behavior, making it a valuable resource for students and anyone interested in the field.

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

This FISH - Application Guide provides an overview of the principles and the basic techniques of fluorescence in situ hybridization (FISH) and primed in situ hybridization (PRINS), which are successfully used to study many aspects of genomic behavior and alterations. In 36 chapters, contributed by international experts in their particular field, the nowadays multiple approaches and applications of the powerful techniques are presented and detailed protocols are given. Described here are methods using various cell types and tissues as well as different organisms, such as mammalians, insects, plants and microorganisms. Multicolor FISH procedures and special applications such as the characterization of marker chromosomes, breakpoints, cryptic aberrations, nuclear architecture and epigenetic changes, as well as (array-based) comparative genomic hybridization studies are presented. Overall, the technique of choice is introduced for single cell analysis in human genetics, microbiology, animal and plant sciences

This special issue focuses on the recent developments in the exciting and continuously progressing field of human multicolor fluorescence in situ hybridisation (mFISH), highlighting the advantages, applications and possible limitations of this technique. Today, mFISH assays are indispensable for the precise characterization of complex chromosome rearrangements and numerical chromosome aberrations. In a first, more technically oriented part, the main mFISH-techniques (M-FISH, SKY, COBRA) are reviewed and their applications described. In the second part, world experts in the field discuss the multitude of presently available techniques and present their latest findings based on the use of mFISH in tumor cytogenetics, clinical genetics and basic investigations. The most recent studies employing mFISH in the diagnosis of leukemia, lymphoma and solid tumors are included as are preimplantation, pre- and postnatal clinical genetic studies using interphase-mFISH probe sets, FISH-banding and DNA-array techniques. Since structurally rearranged marker chromosomes have implications for hereditary and acquired diseases, chromosomal breakpoints are characterized and evaluated. This unique, comprehensive and up-to-date volume will be a valuable resource for (molecular) cytogeneticists, genetic counsellors, cell biologists, geneticists, reproductive scientists, obstetricians, pediatricians, oncologists and hematologists.

Das humorvolle Sachbuch bietet einen tiefen Einblick in die faszinierende Welt der Pukas, einer ungewöhnlichen Tiergruppe, zu der auch der berühmte weiße Hase Harvey gehört. Es behandelt Themen wie Biologie, Genetik, Evolution und Systematik und stellt 20 verschiedene Arten vor. Leser erfahren auf unterhaltsame Weise mehr über die einzigartigen Eigenschaften und Lebensweisen dieser Tiere, die oft im Schatten bekannterer Arten stehen.

Der Überblick über die Humangenetik in diesem Buch umfasst zentrale Themen wie genetische Grundlagen, Vererbungsmuster und die Rolle von Genen bei menschlichen Erkrankungen. Es werden auch ethische Fragestellungen und die Bedeutung genetischer Forschung für die Medizin behandelt. Zudem bietet das Werk Einblicke in moderne Technologien der Genanalyse und deren Anwendung in der Diagnostik und Therapie. Diese umfassende Darstellung richtet sich sowohl an Fachleute als auch an interessierte Laien, die ein tieferes Verständnis für die genetischen Aspekte des Menschen gewinnen möchten.