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Genetic disorders sourcebook

Author: Sandra J Judd
Publisher: Detroit, Michigan : Omnigraphics, [2014] ©2014
Series: Health reference series.
Edition/Format:   eBook : Document : English : Fifth editionView all editions and formats
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Genetic disorders sourcebook.
Detroit, Michigan : Omnigraphics, [2014]
xxi, 716 pages
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Sandra J Judd
ISBN: 9780780813021 0780813022
OCLC Number: 861532611
Description: 1 online resource (xxi, 716 pages).
Contents: Part one. Introduction to genetics --
part two. Disorders resulting from abnormalities in specific genes --
part three. Chromosome abnormalities --
part four. Complex disorders with genetic and environmental components --
part five. Genetic research --
part six. Information for parents of children with genetic disorders --
part seven. Additional help and information. pt. I. Introduction to genetics --
1. Cells and DNA : the basics --
2. How genes work --
3. Genetic mutations and health --
4. Genetic inheritance --
5. Genetic counseling --
6. Testing for genetic disorders --
6.1. you need to know about genetic testing --
6.2. Prenatal genetic testing --
6.3. Newborn screening --
6.4. Screening for critical congenital heart defects --
7. Preventing genetic discrimination. pt. II. Disorders resulting from abnormalities in specific genes --
8. Albinism --
9. Alpha-1 antitrypsin deficiency --
10. Blood clotting deficiency disorders --
10.1. Factor V Leiden thrombophilia --
10.2. Hemophilia --
10.3. Von Willebrand disease --
11. Blood disorders (hemoglobinopathies --
11.1. Fanconi anemia --
11.2. Hemochromatosis --
11.3. Sickle cell disease --
11.4. Thalassemia --
12. CHARGE syndrome --
13. Connective tissue disorders --
13.1. what are heritable disorders of connective tissue? --
13.2. Beals syndrome (congenital contractural arachnodactyly) --
13.3. Ehlers-Danlos syndrome --
13.4. Marfan syndrome --
13.5. Osteogenesis imperfecta --
13.6. Stickler syndrome --
14. Cornelia de Lange syndrome --
15. Cystic fibrosis --
16. Endocrine disorders --
16.1. Congenital adrenal hyperplasia (21-hydroxylase deficiency) --
16.2. Congenital hypothyroidism --
16.3. Kallmann syndrome --
17. Familial hypercholesterolemia --
18. Growth disorders --
18.1. Achondroplasia --
18.2. Dwarfism --
18.3. Multiple epiphyseal dysplasia --
18.4. Russell-Silver syndrome --
18.5. Thanatophoric dysplasia --
19. Heart rhythm disorders --
19.1. Brugada syndrome --
19.2. Familial atrial fibrillation --
19.3. Long QT syndrome --
20; Hereditary deafness --
20.1. Usher syndrome --
20.2. Waardenburg syndrome --
21. Huntington disease --
22. Hypohidrotic ectodermal dysplasia --
23. Inborn errors of metabolism --
23.1. Biotinidase deficiency --
23.2. Fructose intolerance --
23.3. Galactosemia --
23.4. Homocystinuria --
23.5. Maple syrup urine disease --
23.6. Medium chain, acyl-coenzyme A, dehydrogenase deficiency --
23.7. Methylmalonic acidemia --
23.8. Phenylketonuria (PKU) --
23.9. Tyrosinemia --
23.10. Urea cycle defects --
24. Kidney and urinary system disorders --
24.1. Cystinuria --
24.2. Polycystic kidney disease --
25. Leukodystrophies --
26. Lipid storage diseases --
26.1. Batten disease --
26.2. Fabry disease --
26.3. Gaucher disease --
26.4. Niemann-Pick disease --
26.5. Sandhoff disease --
26.6. Tay-Sachs disease --
27. Mitochondrial diseases --
27.1. Basic facts about mitochondrial diseases --
27.2. Treatments and therapies for mitochondrial diseases --
28. Neurofibromatosis --
29. Neuromuscular disorders --
29.1. Charcot-Marie-Tooth disease --
29.2. Early-onset primary dystonia --
29.3. Friedreich ataxia --
29.4. Hereditary spastic paraplegia --
29.5. Muscular dystrophy --
29.6. Spinal muscular atrophy --
30. Noonan syndrome --
31. Porphyria --
32. Retinoblastoma --
33. Rett syndrome --
34. Tuberous sclerosis --
35. Vision disorders --
35.1. Color vision deficiency --
35.2. Early-onset glaucoma --
35.3. X-linked juvenile retinoschisis --
36. Wilson disease. pt. III. Chromosome abnormalities --
37. Angelman syndrome --
38. Cri du Chat syndrome --
39. Down syndrome and other trisomy disorders --
39.1. Down syndrome --
39.2. Edwards syndrome (trisomy 18) --
39.3. Patau syndrome (trisomy 13) --
39.4. Triple X syndrome --
40. Fragile X syndrome --
41. Klinefelter syndrome --
42. Prader-Willi syndrome --
43. Smith-Magenis syndrome --
44. Turner syndrome --
45. Velocardiofacial syndrome --
46. Williams syndrome. pt. IV. Complex disorders with genetic and environmental components --
47. Genes, behavior, the environment, and health --
48. Addiction and genetics --
48.1. Genetics of alcohol use --
48.2. Genetic variation may contribute to risk of alcoholism --
48.3. Genes influence amount of alcohol consumption --
48.4. Genetic research leads to advance in treatment of alcoholism --
48.5. Genes influence how much people smoke and risk of lung cancer --
48.6. Odds of quitting smoking are affected by genetics --
49. Alzheimer disease and genetics --
49.1. Genes related to Alzheimer disease --
49.2. Gene mutation may triple alzheimer risk --
49.3. Additional genes linked to alzheimer risk --
50. Asthma and genetics --
50.1. Basic facts about genes and asthma --
50.2. New research on the genetics of asthma --
51. Cancer and genetics --
51.1. Breast cancer and heredity --
51.2. Colon cancer and heredity --
51.3. New lung cancer gene found --
51.4. Lung cancer and other implicated genes --
51.5. Skin cancer and heredity --
51.6. Genetic risks for prostate, breast, and ovarian cancers --
51.7. Genetic link to prostate cancer risk in African Americans --
52. Crohn disease and genetics --
53. Mental illness and genetics --
53.1. Familial recurrence of mental illness --
53.2. Family history as predictor of severity of mental illness --
53.3. Genetic links in obsessive-compulsive disorder --
53.4. Genetic links in schizophrenia and bipolar disorder --
54. Diabetes and genetics --
55. Heart disease and genetics --
55.1. How genetics impact heart disease risk --
55.2. Genetic link to aortic valve disease discovered --
55.3. New research on genetic ties to heart attack, arrhythmia, and coronary artery disease --
56. Hypertension : research reveals genetic links --
56.1. Research uncovers genetic clues to blood pressure --
56.2. Study identifies new gene targets for hypertension treatment --
56.3. Study identifies key genetic mechanisms that help control high blood pressure --
57. Heredity and movement disorders --
57.1. Genetics of essential tremor --
57.2. Parkinson disease : genetic links --
58. Genetic factors in obesity --
58.1. Genes and obesity : basic facts --
58.2. Obesity and genetics ; what we know --
58.3. "Obesity genes" may influence food choices and eating habits --
58.4. Genes identified for common childhood obesity --
59. Stroke : genetic links --
60. Genetics and Tourette syndrome. pt. V. Genetic research --
61. The Human Genome Project --
61.1. Basic facts about the Human Genome Project --
61.2. Insights learned from the human DNA sequence --
61.3. The Human Genome Project : current knowledge and future research directions --
62. Behavioral genetics --
63. Nutrigenomics : developing personalized diets for disease prevention --
64. Pharmacogenomics --
65. Gene therapy --
65.1. What is gene therapy? --
65.2. Gene therapy and children --
65.3. Gene therapy for advanced Parkinson shows promise --
65.4. Gene therapy for cancer : questions and answers. pt. VI. Information for parents of children with genetic disorders --
66. When you baby has a birth defect --
67. Tips for parenting a child with a disability --
68. Early intervention : an overview --
69. Assistive technology for young children --
70. Education of children with special needs --
70.1. Individualized education programs --
70.2. Three ways parents can help their disabled child stay in school --
70.3. Preparing for college : what students with disabilities need to know --
71. Transition planning for children with special needs --
71.1 Parent tips for transition planning --
71.2. Assisting disabled youth with job search and retention --
72. Government benefits for children and adults with disabilities --
73. Estate planning for families of children with special needs --
73.1. Estate planning : the first five things to do --
73.2. Supplemental needs trusts --
pt. VII : Additional help and information --
74. Glossary of terms related to human genetics --
75. Sources of further help and information related to genetic disorders.
Series Title: Health reference series.
Responsibility: edited by Sandra Judd.

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