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Genetic diseases of the eye
להגדלת הטקסט להקטנת הטקסט- ספר
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mec
| כותר |
Genetic diseases of the eye / edited by Elias I. Traboulsi. |
|---|---|
| מהדורה |
2nd ed. |
| מוציא לאור |
Oxford : Oxford University Press |
| שנה |
2012 |
| הערות |
Description based upon print version of record. Includes bibliographical references. English |
| הערת תוכן ותקציר |
Cover Contents Contributors SECTION ONE: MALFORMATIONS 1. EMBRYOLOGY OF THE EYE AND THE ROLE OF DEVELOPMENTAL GENES 2. TERATOGENS AND OCULAR MALFORMATIONS 3. MALFORMATIONS OF THE OCULAR ADNEXAE 4. NANOPHTHALMOS 5. ANOPHTHALMIA, COLOBOMATOUS, MICROPHTHALMIA, AND OPTIC FISSURE CLOSURE DEFECTS 6. CORNEA PLANA 7. MALFORMATIONS OF THE ANTERIOR SEGMENT OF THE EYE 8. ANIRIDIA 9. CONGENITAL ANOMALIES OF THE OPTIC NERVE 10. CONGENITAL ABNORMALITIES OF THE RETINAL PIGMENT EPITHELIUM 11. PRENATAL IMAGING OF THE EYE AND OCULAR ADNEXAE 12. OCULAR MANIFESTATIONS OF SYNDROMES WITH CRANIOFACIAL ABNORMALITIES 13. OCULAR MANIFESTATIONS OF CHROMOSOMAL ABNORMALITIES SECTION TWO: REFRACTIVE ERRORS, CORNEA, GLAUCOMA, AND CATARACTS 14. INHERITANCE OF REFRACTIVE ERRORS 15. CORNEAL DYSTROPHIES 16. THE GENETICS OF KERATOCONUS 17. MOLECULAR GENETICS OF PRIMARY CONGENITAL GLAUCOMA 18. MOLECULAR GENETICS OF PRIMARY OPEN-ANGLE GLAUCOMA 19. GENETICS OF CONGENITAL CATARACTS SECTION THREE: RETINA AND OPTIC NERVE 20. RETINAL FUNCTION TESTING AND GENETIC DISEASE 21. GENETIC PATHWAYS IN RETINAL DEGENERATIONS AND TARGETS FOR THERAPY 22. PROTEOMIC BIOMARKERS FOR AGE-RELATED MACULAR DEGENERATION 23. RETINITIS PIGMENTOSA 24. JUVENILE RETINOSCHISIS 25. ACHROMATOPSIA-ROD MONOCHROMACY 26. CONE DYSFUNCTION SYNDROMES, CONE DYSTROPHIES, AND CONE-ROD DEGENERATIONS 27. NORTH CAROLINA MACULAR DYSTROPHY/MCRD1 28. BESTROPHINOPATHIES 29. NR2E3-LINKED RETINAL DEGENERATIONS: ENHANCED S-CONE SENSITIVITY SYNDROME, GOLDMANN-FAVRE SYNDROME, CLUMPED PIGMENTARY RETINAL DEGENERATION, AND RETINITIS PIGMENTOSA 30. DISORDERS OF COLOR VISION 31. STARGARDT DISEASE 32. CONGENITAL STATIONARY NIGHT BLINDNESS 33. CHOROIDEREMIA 34. LEBER CONGENITAL AMAUROSIS: CLINICAL, GENETIC, AND THERAPEUTIC PERSPECTIVES 35. FAMILIAL EXUDATIVE VITREORETINOPATHY, NORRIE DISEASE, AND OTHER DEVELOPMENTAL RETINAL VASCULAR DISORDERS 36. HEREDITARY VITREORETINOPATHIES 37. GENETICS OF AGE-RELATED MACULOPATHY 38. PATTERN DYSTROPHIES OF THE RPE 39. HEREDITARY OPTIC NEUROPATHIES 40. PIGMENTARY RETINOPATHY IN SYSTEMIC INHERITED DISEASE SECTION FOUR: EYE MOVEMENT DISORDERS 41. THE GENETICS OF NYSTAGMUS AND ASSOCIATED INHERITED DISEASES 42. THE GENETICS OF STRABISMUS AND ASSOCIATED DISORDERS SECTION FIVE: SYSTEMIC DISEASE AND THE EYE 43. ECTOPIA LENTIS AND ASSOCIATED SYSTEMIC DISEASE 44. PEROXISOMAL DISORDERS 45. ALBINISM 46. THE PHAKOMATOSES SECTION SIX: CANCER GENETICS AND THE EYE 47. SYSTEMIC ASSOCIATIONS OF EYELID TUMORS 48. GENETIC ASPECTS OF UVEAL MELANOMA 49. GENETICS OF RETINOBLASTOMA SECTION SEVEN: TREATMENT 50. VISION REHABILITATION OF THE PATIENT WITH GENETIC EYE DISEASE 51. GENETIC COUNSELING FOR GENETIC EYE DISORDERS 52. GENE THERAPY FOR OCULAR DISEASES Index A B C D E F G H I J K L M N O P Q R S T U V W X Y Z |
| סדרה |
Oxford monographs on medical genetics 61 |
| היקף החומר |
1 online resource (940 pages) |
| שפה |
אנגלית |
| מספר מערכת |
997010706284805171 |
תצוגת MARC
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