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Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitute a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human disorders of development are being discovered and the links between genotype and phenotype established. This extraordinary volume is the first to present in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. Following a series of introductory chapters on the general principles of developmental biology, developmental genetics, and the development of individual tissues or organ systems, more than one hundred clinical genetic disorders are considered. The clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview.; For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counselling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. It is authoritative, clearly written, consistently organized, and attractively illustrated in colour.

Congenital Abnormalities --- Human Development --- Genetic Diseases, Inborn --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Growth and Development --- Behavior and Behavior Mechanisms --- Physiological Processes --- Diseases --- Psychiatry and Psychology --- Physiological Phenomena --- Phenomena and Processes --- Pathology --- Medicine --- Health & Biological Sciences --- Behavior And Behavior Mechanism --- Development and Growth --- Developmental Biology --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Physiological Concepts --- Physiological Phenomenon --- Physiological Process --- Concept, Physiological --- Concepts, Physiological --- Phenomena, Physiological --- Phenomenas, Physiological --- Phenomenon, Physiological --- Physiological Concept --- Process, Physiological --- Processes, Physiological --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetics, Medical --- 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 --- Development, Human --- Humans --- Psychology, Developmental --- Psychiatry

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Abnormalities, Human --- Infants --- Fetus --- Congenital Abnormalities --- Diseases --- Abnormalities --- epidemiology --- Australia --- Birth defects --- Data collection --- Statistics --- Interstate comparisons --- Periodicals

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In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Genetic disorders --- Human chromosome abnormalities --- Molecular diagnosis --- Diagnosis. --- Genetic diagnosis --- Genetic testing --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Human genetics. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology

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From the collection of Dr. Ikkaku Ochi, and dating from the last decade of the 19th century, these photographs record congenital and pathological deformations rarely seen in modern healthcare.

Abnormalities, Human --- Medical photography --- History --- Ochi, Ikkaku --- Photography collections. --- Abnormalities, Human. --- Congenital Abnormalities. --- Fotografie. --- History, 19th Century. --- History, 20th Century. --- Körperliche Entstellung. --- Malformations --- Medical photography. --- Medizin. --- Photograph collections. --- Photographie médicale --- Photography --- Signs and Symptoms. --- Histoire --- Ouvrages illustrés --- History. --- Ochi, Ikkaku, --- Geschichte 1895-1911. --- Japan.

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The cognitive neuroscience of human vision draws on two kinds of evidence: functional imaging of normal subjects and the study of neurological patients with visual disorders. Martha Farah's landmark 1990 book Visual Agnosia presented the first comprehensive analysis of disorders of visual recognition within the framework of cognitive neuroscience, and remains the authoritative work on the subject. This long-awaited second edition provides a reorganized and updated review of the visual agnosias, incorporating the latest research on patients with insights from the functional neuroimaging literature. Visual agnosia refers to a multitude of different disorders and syndromes, fascinating in their own right and valuable for what they can tell us about normal human vision. Some patients cannot recognize faces but can still recognize other objects, while others retain only face recognition. Some see only one object at a time; others can see multiple objects but recognize only one at a time. Some do not consciously perceive the orientation of an object but nevertheless reach for it with perfected oriented grasp; others do not consciously recognize a face as familiar but nevertheless respond to it autonomically. Each disorder is illustrated with a clinical vignette, followed by a thorough review of the case report literature and a discussion of the theoretical implications of the disorder for cognitive neuroscience. The second edition extends the range of disorders covered to include disorders of topographic recognition, and both general and selective disorders of semantic memory, as well as expanded coverage of face recognition impairments. Also included are a discussion of the complementary roles of imaging and patient-based research in cognitive neuroscience, and a final integrative chapter presenting the "big picture" of object recognition as illuminated by agnosia research.

Prosopagnosia --- Pattern Recognition, Visual --- Agnosia --- Form Perception --- Perception --- Perceptual Disorders --- Pattern Recognition, Physiological --- Visual Perception --- Space Perception --- Neurobehavioral Manifestations --- Mental Processes --- Neurologic Manifestations --- Behavior and Behavior Mechanisms --- Psychological Phenomena and Processes --- Signs and Symptoms --- Psychiatry and Psychology --- Nervous System Diseases --- Diseases --- Pathological Conditions, Signs and Symptoms --- Symptoms and General Pathology --- Nervous System Disorders --- Neurological Disorders --- Neurologic Disorders --- Disease, Nervous System --- Diseases, Nervous System --- Disorder, Nervous System --- Disorder, Neurologic --- Disorder, Neurological --- Disorders, Nervous System --- Disorders, Neurologic --- Disorders, Neurological --- Nervous System Disease --- Nervous System Disorder --- Neurologic Disorder --- Neurological Disorder --- Symptoms and Signs --- Psychologic Processes and Principles --- Focal Neurologic Deficits --- Manifestations, Neurologic --- Manifestations, Neurological --- Neurologic Dysfunction --- Neurologic Findings --- Neurologic Manifestation --- Neurologic Signs --- Neurologic Symptoms --- Neurological Manifestations --- Neurologic Deficits --- Neurologic Signs and Symptoms --- Deficit, Focal Neurologic --- Deficit, Neurologic --- Deficits, Focal Neurologic --- Deficits, Neurologic --- Dysfunction, Neurologic --- Dysfunctions, Neurologic --- Finding, Neurologic --- Findings, Neurologic --- Focal Neurologic Deficit --- Manifestation, Neurologic --- Manifestation, Neurological --- Neurologic Deficit --- Neurologic Deficit, Focal --- Neurologic Deficits, Focal --- Neurologic Dysfunctions --- Neurologic Finding --- Neurologic Sign --- Neurologic Symptom --- Neurological Manifestation --- Sign, Neurologic --- Signs, Neurologic --- Symptom, Neurologic --- Symptoms, Neurologic --- Human Information Processing --- Information Processing, Human --- Cognitive Manifestations --- Neurobehavioral Signs and Symptoms --- Cognitive Symptoms --- Signs and Symptoms, Neurobehavioral --- Cognitive Manifestation --- Cognitive Symptom --- Manifestation, Cognitive --- Manifestation, Neurobehavioral --- Manifestations, Cognitive --- Manifestations, Neurobehavioral --- Neurobehavioral Manifestation --- Symptom, Cognitive --- Symptoms, Cognitive --- Perception, Space --- Perceptions, Space --- Space Perceptions --- Perception, Visual --- Perceptions, Visual --- Visual Perceptions --- Pattern Recognition, Auditory --- Pattern Recognition, Tactile --- Auditory Pattern Recognition --- Physiological Pattern Recognition --- Recognition, Auditory Pattern --- Recognition, Physiological Pattern --- Recognition, Tactile Pattern --- Tactile Pattern Recognition --- Hemisensory Neglect --- Sensory Neglect --- Somatosensory Discrimination Disorder --- Hemispatial Neglect --- Discrimination Disorder, Somatosensory --- Discrimination Disorders, Somatosensory --- Hemisensory Neglects --- Hemispatial Neglects --- Neglect, Hemisensory --- Neglect, Hemispatial --- Neglect, Sensory --- Neglects, Hemisensory --- Perceptual Disorder --- Sensory Neglects --- Somatosensory Discrimination Disorders --- Perceptions --- Contour Perception --- Contour Perceptions --- Form Perceptions --- Perception, Contour --- Perception, Form --- Perceptions, Contour --- Perceptions, Form --- Agnosia for Pain --- Agnosia for Smell --- Agnosia for Taste --- Agnosia for Temperature --- Anosognosia --- Auditory Agnosia, Congenital --- Body-Image Agnosia --- Congenital Auditory Agnosia --- Developmental Agnosia --- Gustatory Agnosia --- Ideational Agnosia --- Olfactory Agnosia --- Position Agnosia --- Somatosensory Agnosia --- Time Agnosia --- Topographical Agnosia --- Visual Agnosia for Objects --- Visual Disorientation Syndrome --- Visuospatial Agnosia --- Auditory Agnosia --- Finger Agnosia --- Sensory Agnosia --- Tactile Agnosia --- Visual Agnosia --- Agnosia for Tastes --- Agnosia, Auditory --- Agnosia, Body-Image --- Agnosia, Congenital Auditory --- Agnosia, Developmental --- Agnosia, Finger --- Agnosia, Gustatory --- Agnosia, Ideational --- Agnosia, Olfactory --- Agnosia, Position --- Agnosia, Sensory --- Agnosia, Somatosensory --- Agnosia, Tactile --- Agnosia, Time --- Agnosia, Topographical --- Agnosia, Visual --- Agnosia, Visuospatial --- Agnosias --- Agnosias, Auditory --- Agnosias, Body-Image --- Agnosias, Congenital Auditory --- Agnosias, Developmental --- Agnosias, Finger --- Agnosias, Ideational --- Agnosias, Olfactory --- Agnosias, Position --- Agnosias, Sensory --- Agnosias, Somatosensory --- Agnosias, Tactile --- Agnosias, Time --- Agnosias, Topographical --- Agnosias, Visual --- Agnosias, Visuospatial --- Anosognosias --- Auditory Agnosias --- Auditory Agnosias, Congenital --- Body Image Agnosia --- Body-Image Agnosias --- Congenital Auditory Agnosias --- Developmental Agnosias --- Finger Agnosias --- Ideational Agnosias --- Olfactory Agnosias --- Position Agnosias --- Sensory Agnosias --- Somatosensory Agnosias --- Syndrome, Visual Disorientation --- Syndromes, Visual Disorientation --- Tactile Agnosias --- Time Agnosias --- Topographical Agnosias --- Visual Agnosias --- Visual Disorientation Syndromes --- Visuospatial Agnosias --- Recognition, Visual Pattern --- Visual Pattern Recognition --- Prosopagnosia, Acquired --- Prosopagnosia, Developmental --- Agnosia for Faces --- Facial Recognition Agnosia --- Acquired Prosopagnosia --- Acquired Prosopagnosias --- Agnosia for Face --- Agnosia, Facial Recognition --- Agnosias, Facial Recognition --- Developmental Prosopagnosia --- Developmental Prosopagnosias --- Facial Recognition Agnosias --- Prosopagnosias --- Prosopagnosias, Acquired --- Prosopagnosias, Developmental --- Recognition Agnosia, Facial --- Recognition Agnosias, Facial --- Neurology --- Psychologic Processes --- Psychological Processes --- Phenomena, Psychological --- Processes, Psychologic --- Processes, Psychological --- Psychological Phenomenas --- Psychological Processe --- Nervous System --- Spatial Learning --- Vision, Ocular --- Perceptual Distortion --- Sensation --- Contrast Sensitivity --- Visual agnosia. --- Visual perception. --- NEUROSCIENCE/General --- NEUROSCIENCE/Visual Neuroscience --- Optics, Psychological --- Vision --- Visual discrimination --- Visual perception disorders --- Psychological aspects