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Genetic Diseases of the Eye.
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...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Oxford :
Oxford University Press, USA,
2011.
|
| Edición: | 2nd ed. |
| Colección: | Oxford Monographs on Medical Genetics,13.
|
| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 020 | |a 9780199716975 | ||
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| 082 | 0 | 4 | |a 617.7 |a 617.7/042 |a 617.7042 |
| 049 | |a UAMI | ||
| 100 | 1 | |a MD, Elias I. Traboulsi. | |
| 245 | 1 | 0 | |a Genetic Diseases of the Eye. |
| 250 | |a 2nd ed. | ||
| 260 | |a Oxford : |b Oxford University Press, USA, |c 2011. | ||
| 300 | |a 1 online resource (940 pages). | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 490 | 1 | |a Oxford Monographs on Medical Genetics,13 | |
| 505 | 0 | |a 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. | |
| 505 | 8 | |a 12. ocular manifestations of syndromes with craniofacial abnormalities13. 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. | |
| 505 | 8 | |a 22. PROTEOMIC BIOMARKERS FOR AGE-RELATED MACULAR DEGENERATION23. 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. | |
| 505 | 8 | |a 34. leber congenital amaurosis: clinical, genetic, and therapeutic perspectives35. 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. | |
| 505 | 8 | |a 43. ECTOPIA LENTIS AND ASSOCIATED SYSTEMIC DISEASE44. 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. | |
| 520 | |a 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. | ||
| 588 | 0 | |a Print version record. | |
| 590 | |a ProQuest Ebook Central |b Ebook Central Academic Complete | ||
| 650 | 0 | |a Eye |x Diseases |x Genetic aspects. | |
| 650 | 0 | |a Eye |x Abnormalities. | |
| 650 | 2 | |a Eye Abnormalities | |
| 650 | 6 | |a Œil |x Maladies |x Aspect génétique. | |
| 650 | 6 | |a Œil |x Malformations. | |
| 650 | 7 | |a Eye |x Abnormalities |2 fast | |
| 650 | 7 | |a Eye |x Diseases |x Genetic aspects |2 fast | |
| 758 | |i has work: |a Genetic diseases of the eye (Text) |1 https://id.oclc.org/worldcat/entity/E39PCGXY6J9vbtMfvQTjYdkTRC |4 https://id.oclc.org/worldcat/ontology/hasWork | ||
| 776 | 0 | 8 | |i Print version: |a MD, Elias I Traboulsi. |t Genetic Diseases of the Eye. |d Oxford : Oxford University Press, USA, ©2011 |z 9780195326147 |
| 830 | 0 | |a Oxford Monographs on Medical Genetics,13. | |
| 856 | 4 | 0 | |u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=796043 |z Texto completo |
| 938 | |a ProQuest Ebook Central |b EBLB |n EBL796043 | ||
| 994 | |a 92 |b IZTAP | ||