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    1. Naturvetenskap och teknik
    2. Matematik och naturvetenskap
    3. Biologi

    Clinical Genetics and Genomics at a Glance

    AvNeeta Lakhani,Kunal Kulkarni

    Häftad, Engelska, 2023

    Del i serien At a Glance

    380 kr

    Skickas . Fri frakt över 249 kr.

    Beskrivning

    Clinical Genetics and Genomics at a GlanceThe market-leading at a Glance series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations.Each bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text.Covering a wide range of topics, books in the at a Glance series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond.Everything you need to know about Clinical Genetics and Genomics … at a Glance!Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approachClinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions.Using the popular “at a Glance” format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond.Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body: General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counsellingChapters on key conditions with a genetic basis, organised by body systems, for example:Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac deathDermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosaEndocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.

    Produktinformation

    • Utgivningsdatum:2023-09-28
    • Mått:216 x 272 x 18 mm
    • Vikt:748 g
    • Format:Häftad
    • Språk:Engelska
    • Serie:At a Glance
    • Antal sidor:272
    • Förlag:John Wiley and Sons Ltd
    • ISBN:9781119240952

    Utforska kategorier

    • Biologi inom Naturvetenskap och teknik

    Mer om författaren

    Dr Neeta Lakhani, Specialty Registrar in Clinical Genetics, with a Paediatric background. University Hospitals of Leicester NHS Trust, Leicester, UK.Mr Kunal Kulkarni, Consultant Trauma and Orthopaedic Surgeon (Hand & Wrist specialist). University Hospitals of Leicester NHS Trust, Leicester, UK.Professor Julian Barwell, Consultant in Clinical Genetics and Honorary Professor in Genomic Medicine. University Hospitals of Leicester NHS Trust, Leicester, UK.Professor Pradeep Vasudevan, Consultant in Clinical Genetics and Honorary Professor. University Hospitals of Leicester NHS Trust, Leicester, UK.Dr Huw Dorkins, Fellow and Senior Tutor in Medicine at St Peter's College, University of Oxford, Oxford, UK. Editor-in-Chief, Journal of Medical Genetics.

    Innehållsförteckning

    • ContributorsForewordPrefacePart 1    Introduction1             What is Clinical Genetics and Genomic medicine?2             Inheritance3             Cytogenetic & Molecular genetic techniques4             How to read a genetic test report5             Genetic CounsellingPart 2    Cardiology6             Structure and Congenital Heart Disease7             Ischamic Heart Disease8             Cardiomyopthies9             Arrhythmias and Sudden Cardiac DeathPart 3    Dermatology10           Tuberous Sclerosis11           Gorlin syndrome12           Dariers Disease13           Lamellar Icthyosis14           Mal De Meleda15           Cutaneous Porphyria16           Epidermolysis Bullosa17           Cowden syndrome and Cowden-like syndrome18           Muir-Torre Syndrome18           X-linked Icthyosis20           Birt-Hogg-DubePart 4    Endocrinology21           Disorders of sexual development and differentiation22           Congenital adrenal hyperplasia23           Androgen Insensitivity Syndrome24           Klinefelters syndrome25           Turners Syndrome26           Diabetes Mellitus27           Diabetes Insipidus28           Fabry-AndersonPart 5    Metabolic29           Introduction to the genetics of metabolic disorders30           Overview of disorders of amino acid metabolism31           Overview of disorders of carbohydrate metabolism32           Overview of disorders of lipid metabolism33           Overview of peroxisomal disorders34           Disorders of purine and pyrimidine metabolismPart 6    Gastroenterology35           IBD36           Wilsons37           Heamochromatosis38           Coeliac Disease39           Pancreatic cancerPart 7    Haematology40           Malignant Haematology41           Non malignanat HaematologyPart 8    Immunology42           Severe combined immunodeficiency43           DNA repair defects44           Congenital abnormalities affecting the development of the thymus45           Common variable immunodeficiency46           X-linked (and autosomal recessive) agammaglobulinaemia47           Wiskott-Aldrich syndrome48           Hyperimmunoglobulin M syndromes49           Hyperimmunoglobulin E syndrome50           Chronic mucocutaneous candidiasis51           Genetic disorders associated with immune dysregulation and/or autoimmunity52           Genetic disorders associated with familial haemophagocytic lymphohistiocytosis53           Mendelian susceptibility to mycobacterial disease54           Chronic granulomatous disease55           Defects in leukocyte migration56           Defects of Toll like receptors and their signalling pathways57           Complement deficiencies58           Autoinflammatory diseases and periodic fever syndromesPart 9    Neurology59           SMA60           MND/ALS61           Fragile X62           HD63           Dementia64           Parkinsons65           Myotonic dystrophyPart 10  Paediatrics and Obstetrics66           Fetal anomaly screening67           Prenatal diagnostic testing and Preimplantation Genetic Diagnosis68           Edwards ' Syndrome69           Patau syndrome70           Williams syndrome71           Di George syndromePart 11  Oncology72           Introduction to Cancer73           Neurofibromatosis74           Urological Cancers75           Peutz-Jegher Syndrome76           Von Hippel-Lindau77           Inherited Bowel (Lower GI) Cancers78           Inherited upper GI cancers79           Inherited Breast Cancer80           Retinoblastoma81           Multiple Endocrine NeoplasiaPart 12  Opthalmology82           Congential and Childhood Cataracts83           Colour blindness and Achromatopsia84           Retinitis Pigmentosa85           Primary Congential Glaucoma86           Bardet-Biedl SyndromePart 13  Renal87           PCKD88           Nephronophthisis89           Medullary cystic kidney disease90           Tuberous sclerosis91           von Hippel-Lindau92           Alport syndrome93           Cystinosis94           CystinuriaPart 14  MSK95           Marfans96           EDS97           Congenital Limb Deficiencies98           DMD99           Charcot–Marie–Tooth (CMT)100        Ankylosing Spondylitis101        Skeletal dysplasiasGlossaryIndex