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This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed.; X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.

X-linked mental retardation --- Sex Chromosome Disorders --- X Chromosome --- Genetic Diseases, Inborn --- Sex Chromosomes --- Chromosome Disorders --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Chromosomes --- Diseases --- Congenital Abnormalities --- Cellular Structures --- Genetic Structures --- Genetic Phenomena --- Cells --- Anatomy

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This invaluable book is a comprehensive review of congenital heart defects in the major mammalian groups. It begins with a comparison of normal cardiac anatomy between these groups. The analysis of cardiac malformations is simplified and presented in a didactic manner. The anatomy of the common malformations is presented with examples. A comment on the common anomalies seen in each group, together with an extensive reference list, helps the reader to access the source of information easily.

Congenital heart disease in animals. --- Mammals -- Diseases. --- Veterinary cardiology. --- Cardiovascular Abnormalities --- Heart Diseases --- Vertebrates --- Cardiovascular Diseases --- Chordata --- Congenital Abnormalities --- Diseases --- Animals --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Eukaryota --- Organisms --- Mammals --- Heart Defects, Congenital --- Health & Biological Sciences --- Veterinary Medicine --- Diseases. --- Eutheria --- Mammalia --- Mammalians --- Prototheria --- Theria --- Cardiology

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th This volume contains articles presented at the X International Symposium on Purines and Pyrimidines in Man, held on May 14 19, 2000 in Tel Aviv, Israel. The first symposium in this series took place in Tel Aviv in 1973. Since then, the symposium has been held every three years in different parts of the world, including Europe, USA and Japan. The participants, in this series of symposia, are characterised by a wide interest in the various aspects of purines and pyrimidines in man, which include biochemistry, genetics, pharmacology, physiology, clinics, etc. Presentations in the symposia include clarification of metabolic pathways, characterisation of enzyme structure and kinetics and discoveries of new inborn errors of metabolism and suggestions for new therapeutic approaches for these inborn errors. In addition, development of new purine and pyrimidine derivatives for the treatment of cancer and viral diseases, and many more subjects of mutual interest were brought to the fore. With the development of therapeutic means and of new research tools, we have witnessed changes in the areas of interest. The interest in gout and uric acid urolithiasis has lessened, whereas molecular aspects, the role of purine and pyrimidine substances in neurotransmission and in purinergic signaling appear to gain greater interest. The articles, included in this volume, contain new data pertaining to the various aspects detailed above.

Electronic books. -- local. --- Purines -- Metabolism -- Congresses. --- Purines -- Metabolism -- Disorders -- Congresses. --- Pyrimidines -- Metabolism -- Congresses. --- Pyrimidines -- Metabolism -- Disorders -- Congresses. --- Purines --- Pyrimidines --- Metabolism, Inborn Errors --- Publication Formats --- Metabolic Phenomena --- Heterocyclic Compounds, 1-Ring --- Heterocyclic Compounds, 2-Ring --- Phenomena and Processes --- Publication Characteristics --- Heterocyclic Compounds --- Metabolic Diseases --- Genetic Diseases, Inborn --- Nutritional and Metabolic Diseases --- Chemicals and Drugs --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Purine-Pyrimidine Metabolism, Inborn Errors --- Congresses --- Metabolism --- Disorders --- Life sciences. --- Cancer research. --- Medical biochemistry. --- Biochemistry. --- Life Sciences. --- Biochemistry, general. --- Medical Biochemistry. --- Cancer Research. --- Oncology. --- Cancer research --- Medical biochemistry --- Pathobiochemistry --- Pathological biochemistry --- Biochemistry --- Pathology --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Medical sciences --- Composition --- Heterocyclic compounds --- Uric acid