El Dorado : “Money and titles may be hereditary," she would say, "but brains are not,"...” |
Autore | Orczy Baroness |
Pubbl/distr/stampa | London : , : Copyright Group, , 2016 |
Descrizione fisica | 1 online resource (243 pages) |
Disciplina | 617.7042 |
Soggetto topico | Eye - Diseases - Genetic aspects |
ISBN | 1-78543-661-9 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Altri titoli varianti | Dorado |
Record Nr. | UNINA-9910163300603321 |
Orczy Baroness | ||
London : , : Copyright Group, , 2016 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
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 | ||
|
Genetics of ocular diseases / / H. V. Nema and Nitin Nema, editors |
Pubbl/distr/stampa | Singapore : , : Springer, , [2022] |
Descrizione fisica | 1 online resource (213 pages) |
Disciplina | 617.7042 |
Soggetto topico | Eye - Diseases - Genetic aspects |
ISBN |
981-16-4247-8
981-16-4246-X |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910743354403321 |
Singapore : , : Springer, , [2022] | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Ophthalmic Genetic Diseases : a quick reference guide to the eye and external ocular adnexa abnormalities / / Natario L. Couser |
Autore | Natario L. Couser |
Edizione | [First edition.] |
Pubbl/distr/stampa | St. Louis : , : Elsevier, , 2019 |
Descrizione fisica | 1 online resource (xv, 182 pages) : illustrations |
Disciplina | 617.7042 |
Soggetto topico |
Lacrimal apparatus - Abnormalities
Eyelids - Abnormalities Eye - Diseases - Diagnosis Eye - Abnormalities Eye - Diseases - Genetic aspects |
ISBN |
0-323-65415-0
0-323-65414-2 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910583373803321 |
Natario L. Couser | ||
St. Louis : , : Elsevier, , 2019 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Ophthalmic genetics |
Pubbl/distr/stampa | Buren, the Netherlands, : Aeolus Press |
Disciplina | 617.71 |
Soggetto topico |
Eye - Diseases - Genetic aspects
Eye Diseases - genetics Eye Diseases Infant Child Oogafwijkingen |
Soggetto genere / forma |
Periodical
Periodicals. |
ISSN | 1744-5094 |
Formato | Materiale a stampa |
Livello bibliografico | Periodico |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910154514903321 |
Buren, the Netherlands, : Aeolus Press | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Ophthalmo-genomics [[electronic resource] ] : met het oog op genetische verschillen / / Arthur Bergen |
Autore | Bergen Arthur |
Pubbl/distr/stampa | Amsterdam, : Vossiuspers UvA, c2006 |
Descrizione fisica | 1 online resource (27 p.) |
Disciplina |
572.8
572.8/38 |
Collana | Oratiereeks / Faculteit der Geneeskunde |
Soggetto topico | Eye - Diseases - Genetic aspects |
Soggetto genere / forma | Electronic books. |
ISBN |
1-281-98580-5
9786611985806 90-485-0716-2 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | dut |
Record Nr. | UNINA-9910480406603321 |
Bergen Arthur | ||
Amsterdam, : Vossiuspers UvA, c2006 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Ophthalmo-genomics [[electronic resource] ] : met het oog op genetische verschillen / / Arthur Bergen |
Autore | Bergen Arthur |
Pubbl/distr/stampa | Amsterdam, : Vossiuspers UvA, c2006 |
Descrizione fisica | 1 online resource (27 p.) |
Disciplina |
572.8
572.8/38 |
Collana | Oratiereeks / Faculteit der Geneeskunde |
Soggetto topico | Eye - Diseases - Genetic aspects |
ISBN |
1-281-98580-5
9786611985806 90-485-0716-2 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | dut |
Record Nr. | UNINA-9910782450203321 |
Bergen Arthur | ||
Amsterdam, : Vossiuspers UvA, c2006 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|
Ophthalmo-genomics [[electronic resource] ] : met het oog op genetische verschillen / / Arthur Bergen |
Autore | Bergen Arthur |
Edizione | [1st ed.] |
Pubbl/distr/stampa | Amsterdam, : Vossiuspers UvA, c2006 |
Descrizione fisica | 1 online resource (27 p.) |
Disciplina |
572.8
572.8/38 |
Collana | Oratiereeks / Faculteit der Geneeskunde |
Soggetto topico | Eye - Diseases - Genetic aspects |
ISBN |
1-281-98580-5
9786611985806 90-485-0716-2 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | dut |
Nota di contenuto | Intro -- Ophthalmo-genomics -- Het oog -- Overerving van oogkenmerken in de familie -- Overerving van genetische oogziekten: koppeling -- Genetisch bepaalde oogafwijkingen: associatie -- Van ophthalmogenetica naar ophthalmo-genomics -- Darwin en Mendel -- Waardenburg en Delleman: nationaal archief genetische oogziekten -- Genetische verschillen -- Recombinatie en mutatie -- Monogene en multifactoriële ziekten -- Retinitis pigmentosa -- Macula degeneratie -- Glaucoom -- Priorititeiten en ontwikkelingen in onderzoek en patiëntenzorg -- Gentherapie -- Implicaties voor de oogheelkunde en klinische genetica -- Samenvatting toekomstvisie -- Dankwoord -- Referenties. |
Record Nr. | UNINA-9910822877003321 |
Bergen Arthur | ||
Amsterdam, : Vossiuspers UvA, c2006 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
|