Focusing on the biological phenomenon of uniparental disomy (UPD), this book explores its implications for congenital diseases and includes eight testimonials from affected families. It addresses critical questions about UPD, including its definition, prevalence, developmental mechanisms, and clinical consequences. The text clarifies the distinction between congenital and acquired UPD and discusses related topics such as imprinting, syndromes, and potential gene therapies, positioning UPD as a chromosomal phenomenon rather than merely a genetic issue.
Dr. Thomas Liehr Book order






- 2024
- 2023
Focusing on small supernumerary marker chromosomes (sSMCs), this introduction explores their significance in genetics. It covers their origins, implications for genetic disorders, and the challenges they pose in diagnosis and treatment. The book aims to provide a comprehensive understanding of sSMCs for researchers and clinicians, highlighting the latest findings and methodologies in the field.
- 2020
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.
- 2018
This book is a general overview on Human Genetics including: - an attempt for a definition and a short history of Human Genetics; - Mendel’s rules, basics on mitosis, meiosis and mutations; - an overview on clinical genetics including, pedigrees, modes of inheritance and genetic counseling; - basics of cytogenetics, molecular cytogenetics and molecular genetics; - pre- and postnatal genetic diagnostics with genomic disorders; and - tumor genetics (including cancer and familial cancer syndromes). - Also aspects of mutagenesis, teratology, gene therapy, population genetics and epigenetics are discussed. Overall, this book is meant as a kind of ‘starter package’ for interested future human genetics specialists.