Genetic diseases of the eye [[electronic resource] /] / edited by Elias I. Traboulsi |
Edizione | [2nd ed.] |
Pubbl/distr/stampa | Oxford, : Oxford University Press, 2012 |
Descrizione fisica | 1 online resource (940 p.) |
Disciplina | 617.7/042 |
Altri autori (Persone) | TraboulsiElias I |
Collana | Oxford monographs on medical genetics |
Soggetto topico |
Eye - Diseases - Genetic aspects
Eye - Abnormalities |
Soggetto genere / forma | Electronic books. |
ISBN |
0-19-997518-3
1-283-34883-7 9786613348838 0-19-971697-8 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Nota di contenuto |
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 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 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 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 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 |
Record Nr. | UNINA-9910457640303321 |
Oxford, : Oxford University Press, 2012 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Genetic diseases of the eye / / edited by Elias I. Traboulsi |
Edizione | [2nd ed.] |
Pubbl/distr/stampa | Oxford, : Oxford University Press, 2012 |
Descrizione fisica | 1 online resource (940 pages) |
Disciplina | 617.7/042 |
Altri autori (Persone) | TraboulsiElias I |
Collana | Oxford monographs on medical genetics |
Soggetto topico |
Eye - Diseases - Genetic aspects
Eye - Abnormalities |
ISBN |
0-19-997518-3
1-283-34883-7 9786613348838 0-19-971697-8 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Nota di contenuto |
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 |
Record Nr. | UNINA-9910781973403321 |
Oxford, : Oxford University Press, 2012 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Genetic diseases of the eye / / edited by Elias I. Traboulsi |
Edizione | [2nd ed.] |
Pubbl/distr/stampa | Oxford, : Oxford University Press, 2012 |
Descrizione fisica | 1 online resource (940 pages) |
Disciplina | 617.7/042 |
Altri autori (Persone) | TraboulsiElias I |
Collana | Oxford monographs on medical genetics |
Soggetto topico |
Eye - Diseases - Genetic aspects
Eye - Abnormalities |
ISBN |
0-19-997518-3
1-283-34883-7 9786613348838 0-19-971697-8 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Nota di contenuto |
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 |
Record Nr. | UNINA-9910810596603321 |
Oxford, : Oxford University Press, 2012 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Wills Eye Handbook of Ocular Genetics / / by: Levin, Alex V., Zanolli, Mario, Capasso, Jenina E. |
Autore | Capasso Jenina E |
Pubbl/distr/stampa | New York : , : Thieme, , [2018] |
Descrizione fisica | 1 online resource (xi, 296 pages) : illustrations (some color) |
Disciplina | 617.7/042 |
Soggetto topico |
Eye - Diseases
Eye - Diseases - Genetic aspects |
ISBN |
1-63853-164-1
1-62623-294-6 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910796700103321 |
Capasso Jenina E | ||
New York : , : Thieme, , [2018] | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Wills Eye Handbook of Ocular Genetics / / by: Levin, Alex V., Zanolli, Mario, Capasso, Jenina E. |
Autore | Capasso Jenina E |
Pubbl/distr/stampa | New York : , : Thieme, , [2018] |
Descrizione fisica | 1 online resource (xi, 296 pages) : illustrations (some color) |
Disciplina | 617.7/042 |
Soggetto topico |
Eye - Diseases
Eye - Diseases - Genetic aspects |
ISBN |
1-63853-164-1
1-62623-294-6 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910823006703321 |
Capasso Jenina E | ||
New York : , : Thieme, , [2018] | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
The Wills eye handbook of ocular genetics / / Alex V. Levin, Mario Zanolli, Jenina Capasso |
Autore | Levin Alex V. <1957-> |
Pubbl/distr/stampa | New York : , : Thieme, , [2018] |
Descrizione fisica | 1 online resource (xi, 296 pages) : illustrations (some color) |
Disciplina | 617.7/042 |
Soggetto topico |
Eye - Diseases
Eye - Diseases - Genetic aspects |
Soggetto genere / forma | Electronic books. |
ISBN | 1-62623-294-6 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910466519303321 |
Levin Alex V. <1957-> | ||
New York : , : Thieme, , [2018] | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|