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Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.
Congenital Abnormalities. --- Abnormalities --- Anomalies, Congenital --- Birth defects --- Congenital abnormalities --- Congenital anomalies --- Defects, Birth --- Deformities --- Developmental abnormalities --- Human abnormalities --- Malformations, Congenital --- Morphology --- Pathology --- Teratogenesis --- Teratology --- Medicine --- Embryology --- Health Sciences --- Obstetrics and Gynecology --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Fetal Anomalies --- Fetal Malformations --- Abnormality, Congenital --- Anomaly, Fetal --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Deformity --- Fetal Anomaly --- Fetal Malformation --- Malformation, Fetal --- Fetal Diseases --- Infant, Newborn, Diseases --- Abnormalities, Human. --- Human embryo --- Newborn infants. --- Abnormalities.
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TBX genes belong to a family of homeotic genes (t-boxes) for which it has been proved that gene mutations have serious consequences on the development. In particular, there is significant evidence to support the involvement of the TBX1 gene in DiGeorge / Velocardiofacial syndrome (DGS/VCFS) and it has been proved that the TBX3 and TBX5 genes are implicated, respectively, in UMS (Ulnar Mammary Syndhrome) and in Holt-Oram syndrome (HOS). The book collects information available in the literature up to October 2001 on human TBX genes. The review of the data allowed to come to interesting considerations and offers ideas for orienting further research.
Genetics. --- Pathology. --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Genetic Processes --- DNA-Binding Proteins --- Transcription Factors --- Genetic Phenomena --- Proteins --- Diseases --- Phenomena and Processes --- Amino Acids, Peptides, and Proteins --- Chemicals and Drugs --- Mutagenesis --- T-Box Domain Proteins --- Congenital Abnormalities --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Deformities --- Fetal Anomalies --- Fetal Malformations --- Abnormality, Congenital --- Anomaly, Fetal --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Deformity --- Fetal Anomaly --- Fetal Malformation --- Malformation, Fetal --- Fetal Diseases --- Infant, Newborn, Diseases --- Teratogenesis --- Proteins, T-Box Domain --- T Box Domain Proteins --- Mutageneses --- Mutation Accumulation --- Mutagens --- Mutation --- Gene Products, Protein --- Gene Proteins --- Protein --- Protein Gene Products --- Proteins, Gene --- Molecular Mechanisms of Pharmacological Action --- Genetic Concepts --- Genetic Phenomenon --- Genetic Process --- Concept, Genetic --- Concepts, Genetic --- Genetic Concept --- Phenomena, Genetic --- Phenomenon, Genetic --- Process, Genetic --- Processes, Genetic --- Molecular Biology --- Transcription Factor --- Factor, Transcription --- Factors, Transcription --- Gene Expression Regulation --- Transcription, Genetic --- DNA Binding Protein --- DNA Single-Stranded Binding Protein --- SS DNA BP --- Single-Stranded DNA-Binding Protein --- DNA Helix Destabilizing Proteins --- DNA-Binding Protein --- Single-Stranded DNA Binding Proteins --- Binding Protein, DNA --- DNA Binding Proteins --- DNA Single Stranded Binding Protein --- DNA-Binding Protein, Single-Stranded --- Protein, DNA-Binding --- Single Stranded DNA Binding Protein --- Single Stranded DNA Binding Proteins --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Disease (Pathology) --- Medical sciences --- Medicine --- Medicine, Preventive --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Drug Therapy --- Pharmacologic Actions --- Therapy, Drug --- Chemotherapy --- Pharmacotherapy --- Chemotherapies --- Drug Therapies --- Pharmacotherapies --- Therapies, Drug --- Disease --- Pharmaceutical Preparations --- drug therapy --- therapeutic use --- Medicina --- Genetica --- DNA --- Open Access
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