Clinical Genetics and Genomics at a Glance (Paperback)

· 제목 : Clinical Genetics and Genomics at a Glance (Paperback) 
· 분류 : 외국도서 > 의학 > 유전학
· ISBN : 9781119240952
· 쪽수 : 272쪽
· 출판일 : 2023-09-28

Contributors

Foreword

               Preface

Part 1    Introduction

1             What is Clinical Genetics and Genomic medicine?

2             Inheritance

3             Cytogenetic & Molecular genetic techniques

4             How to read a genetic test report

5             Genetic Counselling

Part 2    Cardiology

6             Structure and Congenital Heart Disease

7             Ischamic Heart Disease

8             Cardiomyopthies

9             Arrhythmias and Sudden Cardiac Death

Part 3    Dermatology

10           Tuberous Sclerosis

11           Gorlin syndrome

12           Dariers Disease

13           Lamellar Icthyosis

14           Mal De Meleda

15           Cutaneous Porphyria

16           Epidermolysis Bullosa

17           Cowden syndrome and Cowden-like syndrome

18           Muir-Torre Syndrome

18           X-linked Icthyosis

20           Birt-Hogg-Dube

Part 4    Endocrinology

21           Disorders of sexual development and differentiation

22           Congenital adrenal hyperplasia

23           Androgen Insensitivity Syndrome

24           Klinefelters syndrome

25           Turners Syndrome

26           Diabetes Mellitus

27           Diabetes Insipidus

28           Fabry-Anderson

Part 5    Metabolic

29           Introduction to the genetics of metabolic disorders

30           Overview of disorders of amino acid metabolism

31           Overview of disorders of carbohydrate metabolism

32           Overview of disorders of lipid metabolism

33           Overview of peroxisomal disorders

34           Disorders of purine and pyrimidine metabolism

Part 6    Gastroenterology

35           IBD

36           Wilsons

37           Heamochromatosis

38           Coeliac Disease

39           Pancreatic cancer

Part 7    Haematology

40           Malignant Haematology

41           Non malignanat Haematology

Part 8    Immunology

42           Severe combined immunodeficiency

43           DNA repair defects

44           Congenital abnormalities affecting the development of the thymus

45           Common variable immunodeficiency

46           X-linked (and autosomal recessive) agammaglobulinaemia

47           Wiskott-Aldrich syndrome

48           Hyperimmunoglobulin M syndromes

49           Hyperimmunoglobulin E syndrome

50           Chronic mucocutaneous candidiasis

51           Genetic disorders associated with immune dysregulation and/or autoimmunity

52           Genetic disorders associated with familial haemophagocytic lymphohistiocytosis

53           Mendelian susceptibility to mycobacterial disease

54           Chronic granulomatous disease

55           Defects in leukocyte migration

56           Defects of Toll like receptors and their signalling pathways

57           Complement deficiencies

58           Autoinflammatory diseases and periodic fever syndromes

Part 9    Neurology

59           SMA

60           MND/ALS

61           Fragile X

62           HD

63           Dementia

64           Parkinsons

65           Myotonic dystrophy

Part 10  Paediatrics and Obstetrics

66           Fetal anomaly screening

67           Prenatal diagnostic testing and Preimplantation Genetic Diagnosis

68           Edwards ' Syndrome

69           Patau syndrome

70           Williams syndrome

71           Di George syndrome

Part 11  Oncology

72           Introduction to Cancer

73           Neurofibromatosis

74           Urological Cancers

75           Peutz-Jegher Syndrome

76           Von Hippel-Lindau

77           Inherited Bowel (Lower GI) Cancers

78           Inherited upper GI cancers

79           Inherited Breast Cancer

80           Retinoblastoma

81           Multiple Endocrine Neoplasia

Part 12  Opthalmology

82           Congential and Childhood Cataracts

83           Colour blindness and Achromatopsia

84           Retinitis Pigmentosa

85           Primary Congential Glaucoma

86           Bardet-Biedl Syndrome

Part 13  Renal

87           PCKD

88           Nephronophthisis

89           Medullary cystic kidney disease

90           Tuberous sclerosis

91           von Hippel-Lindau

92           Alport syndrome

93           Cystinosis

94           Cystinuria

Part 14  MSK

95           Marfans

96           EDS

97           Congenital Limb Deficiencies

98           DMD

99           Charcot–Marie–Tooth (CMT)

100        Ankylosing Spondylitis

101        Skeletal dysplasias

Glossary

Index