The Wills Eye handbook of ocular genetics /:
"Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition o...
Gespeichert in:
| Hauptverfasser: | , , |
|---|---|
| Körperschaft: | |
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
New York :
Thieme,
[2018]
|
| Schlagworte: | |
| Online-Zugang: | DE-862 DE-863 |
| Zusammenfassung: | "Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists'purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders. The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes. Key FeaturesFundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issuesPatient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future optionsAnterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmiaA broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisisThis textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease."--Publisher |
| Beschreibung: | 1 online resource (xi, 296 pages : illustrations (some color)) |
| Bibliographie: | Includes bibliographical references and index |
| ISBN: | 9781626232945 1626232946 |
Internformat
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| 245 | 1 | 4 | |a The Wills Eye handbook of ocular genetics / |c Alex V. Levin, Mario Zanolli, Jenina Capasso |
| 246 | 3 | |a Handbook of ocular genetics | |
| 264 | 1 | |a New York : |b Thieme, |c [2018] | |
| 300 | |a 1 online resource (xi, 296 pages : |b illustrations (some color)) | ||
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| 588 | 0 | |a Print version record | |
| 504 | |a Includes bibliographical references and index | ||
| 505 | 0 | |a Basic Genetics -- Inheritance Patterns -- Genetic Testing -- Ethical Issues -- Corneal Dystrophies -- Aniridia -- Peters Anomaly -- Axenfeld-Rieger Syndrome -- Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma -- Childhood Cataract -- Microphthalmia -- Marfan Syndrome and Other Causes of Ectopia Lentis -- Familial Exudative Vitreoretinopathy -- Stickler Syndrome -- VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome) -- Incontinentia Pigmenti -- Retinitis Pigmentosa -- Usher Syndrome -- Bardet-Biedl Syndrome -- Cone-Rod Dystrophy -- Choroideremia -- Enhanced S-Cone Syndrome and Other NR2E3-Related Retinal Dystrophies -- Stargardt Disease and Other ABCA4 Retinopathies -- Best Vitelliform Macular Dystrophy (Best Disease) -- Leber Congenital Amaurosis -- Achromatopsia -- Congenital Stationary Night Blindness -- Juvenile X-Linked Retinoschisis -- Retinoblastoma -- Optic Nerve Hypoplasia -- Leber Hereditary Optic Neuropathy -- Complex Ocular Disorders -- Albinism. | |
| 520 | |a "Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists'purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders. The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes. Key FeaturesFundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issuesPatient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future optionsAnterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmiaA broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisisThis textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease."--Publisher | ||
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Datensatz im Suchindex
| DE-BY-FWS_katkey | ZDB-4-EBA-on1000150685 |
|---|---|
| _version_ | 1826942159275687936 |
| adam_text | |
| any_adam_object | |
| author | Levin, Alex V., 1957- Zanolli, Mario Capasso, Jenina |
| author_GND | http://id.loc.gov/authorities/names/n95800454 |
| author_corporate | Wills Eye Hospital (Philadelphia, Pa.) |
| author_corporate_role | |
| author_facet | Levin, Alex V., 1957- Zanolli, Mario Capasso, Jenina Wills Eye Hospital (Philadelphia, Pa.) |
| author_role | aut aut aut |
| author_sort | Levin, Alex V., 1957- |
| author_variant | a v l av avl m z mz j c jc |
| building | Verbundindex |
| bvnumber | localFWS |
| callnumber-first | R - Medicine |
| callnumber-label | RE48 |
| callnumber-raw | RE48 .L49 2018eb |
| callnumber-search | RE48 .L49 2018eb |
| callnumber-sort | RE 248 L49 42018EB |
| callnumber-subject | RE - Ophthalmology |
| collection | ZDB-4-EBA |
| contents | Basic Genetics -- Inheritance Patterns -- Genetic Testing -- Ethical Issues -- Corneal Dystrophies -- Aniridia -- Peters Anomaly -- Axenfeld-Rieger Syndrome -- Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma -- Childhood Cataract -- Microphthalmia -- Marfan Syndrome and Other Causes of Ectopia Lentis -- Familial Exudative Vitreoretinopathy -- Stickler Syndrome -- VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome) -- Incontinentia Pigmenti -- Retinitis Pigmentosa -- Usher Syndrome -- Bardet-Biedl Syndrome -- Cone-Rod Dystrophy -- Choroideremia -- Enhanced S-Cone Syndrome and Other NR2E3-Related Retinal Dystrophies -- Stargardt Disease and Other ABCA4 Retinopathies -- Best Vitelliform Macular Dystrophy (Best Disease) -- Leber Congenital Amaurosis -- Achromatopsia -- Congenital Stationary Night Blindness -- Juvenile X-Linked Retinoschisis -- Retinoblastoma -- Optic Nerve Hypoplasia -- Leber Hereditary Optic Neuropathy -- Complex Ocular Disorders -- Albinism. |
| ctrlnum | (OCoLC)1000150685 |
| dewey-full | 617.7/042 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 617 - Surgery & related medical specialties |
| dewey-raw | 617.7/042 |
| dewey-search | 617.7/042 |
| dewey-sort | 3617.7 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Electronic eBook |
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| genre | Handbook Case Reports manuals (instructional materials) aat handbooks. aat Handbooks and manuals fast Handbooks and manuals. lcgft http://id.loc.gov/authorities/genreForms/gf2014026109 Case studies. lcgft http://id.loc.gov/authorities/genreForms/gf2017026140 Guides et manuels. rvmgf Études de cas. rvmgf |
| genre_facet | Handbook Case Reports manuals (instructional materials) handbooks. Handbooks and manuals Handbooks and manuals. Case studies. Guides et manuels. Études de cas. |
| id | ZDB-4-EBA-on1000150685 |
| illustrated | Illustrated |
| indexdate | 2025-03-18T14:23:34Z |
| institution | BVB |
| institution_GND | http://id.loc.gov/authorities/names/n85240780 |
| isbn | 9781626232945 1626232946 |
| language | English |
| lccn | 2017037367 |
| oclc_num | 1000150685 |
| open_access_boolean | |
| owner | MAIN DE-862 DE-BY-FWS DE-863 DE-BY-FWS |
| owner_facet | MAIN DE-862 DE-BY-FWS DE-863 DE-BY-FWS |
| physical | 1 online resource (xi, 296 pages : illustrations (some color)) |
| psigel | ZDB-4-EBA FWS_PDA_EBA ZDB-4-EBA |
| publishDate | 2018 |
| publishDateSearch | 2018 |
| publishDateSort | 2018 |
| publisher | Thieme, |
| record_format | marc |
| spelling | Levin, Alex V., 1957- author. http://id.loc.gov/authorities/names/n95800454 The Wills Eye handbook of ocular genetics / Alex V. Levin, Mario Zanolli, Jenina Capasso Handbook of ocular genetics New York : Thieme, [2018] 1 online resource (xi, 296 pages : illustrations (some color)) text txt rdacontent still image sti rdacontent computer c rdamedia online resource cr rdacarrier Print version record Includes bibliographical references and index Basic Genetics -- Inheritance Patterns -- Genetic Testing -- Ethical Issues -- Corneal Dystrophies -- Aniridia -- Peters Anomaly -- Axenfeld-Rieger Syndrome -- Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma -- Childhood Cataract -- Microphthalmia -- Marfan Syndrome and Other Causes of Ectopia Lentis -- Familial Exudative Vitreoretinopathy -- Stickler Syndrome -- VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome) -- Incontinentia Pigmenti -- Retinitis Pigmentosa -- Usher Syndrome -- Bardet-Biedl Syndrome -- Cone-Rod Dystrophy -- Choroideremia -- Enhanced S-Cone Syndrome and Other NR2E3-Related Retinal Dystrophies -- Stargardt Disease and Other ABCA4 Retinopathies -- Best Vitelliform Macular Dystrophy (Best Disease) -- Leber Congenital Amaurosis -- Achromatopsia -- Congenital Stationary Night Blindness -- Juvenile X-Linked Retinoschisis -- Retinoblastoma -- Optic Nerve Hypoplasia -- Leber Hereditary Optic Neuropathy -- Complex Ocular Disorders -- Albinism. "Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists'purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders. The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes. Key FeaturesFundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issuesPatient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future optionsAnterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmiaA broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisisThis textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease."--Publisher Eye Diseases Genetics Handbooks, manuals, etc. Eye Diseases. http://id.loc.gov/authorities/subjects/sh85046653 Genetic diseases and disorders. Eye Diseases, Hereditary genetics Eye Diseases, Hereditary therapy Eye Diseases https://id.nlm.nih.gov/mesh/D005128 Œil Maladies Génétique Guides, manuels, etc. Œil Maladies. MEDICAL Surgery General. bisacsh Eye Diseases fast Handbook Case Reports manuals (instructional materials) aat handbooks. aat Handbooks and manuals fast Handbooks and manuals. lcgft http://id.loc.gov/authorities/genreForms/gf2014026109 Case studies. lcgft http://id.loc.gov/authorities/genreForms/gf2017026140 Guides et manuels. rvmgf Études de cas. rvmgf Zanolli, Mario, author. Capasso, Jenina, author. Wills Eye Hospital (Philadelphia, Pa.) http://id.loc.gov/authorities/names/n85240780 has work: The Wills Eye handbook of ocular genetics (Text) https://id.oclc.org/worldcat/entity/E39PCGFfyF6F3Hfqxrh9yWgFrq https://id.oclc.org/worldcat/ontology/hasWork Print version: Levin, Alex V., 1957- Wills Eye handbook of ocular genetics. New York : Thieme, [2018] 9781626232938 (DLC) 2017035629 (OCoLC)999512519 |
| spellingShingle | Levin, Alex V., 1957- Zanolli, Mario Capasso, Jenina The Wills Eye handbook of ocular genetics / Basic Genetics -- Inheritance Patterns -- Genetic Testing -- Ethical Issues -- Corneal Dystrophies -- Aniridia -- Peters Anomaly -- Axenfeld-Rieger Syndrome -- Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma -- Childhood Cataract -- Microphthalmia -- Marfan Syndrome and Other Causes of Ectopia Lentis -- Familial Exudative Vitreoretinopathy -- Stickler Syndrome -- VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome) -- Incontinentia Pigmenti -- Retinitis Pigmentosa -- Usher Syndrome -- Bardet-Biedl Syndrome -- Cone-Rod Dystrophy -- Choroideremia -- Enhanced S-Cone Syndrome and Other NR2E3-Related Retinal Dystrophies -- Stargardt Disease and Other ABCA4 Retinopathies -- Best Vitelliform Macular Dystrophy (Best Disease) -- Leber Congenital Amaurosis -- Achromatopsia -- Congenital Stationary Night Blindness -- Juvenile X-Linked Retinoschisis -- Retinoblastoma -- Optic Nerve Hypoplasia -- Leber Hereditary Optic Neuropathy -- Complex Ocular Disorders -- Albinism. Eye Diseases Genetics Handbooks, manuals, etc. Eye Diseases. http://id.loc.gov/authorities/subjects/sh85046653 Genetic diseases and disorders. Eye Diseases, Hereditary genetics Eye Diseases, Hereditary therapy Eye Diseases https://id.nlm.nih.gov/mesh/D005128 Œil Maladies Génétique Guides, manuels, etc. Œil Maladies. MEDICAL Surgery General. bisacsh Eye Diseases fast |
| subject_GND | http://id.loc.gov/authorities/subjects/sh85046653 https://id.nlm.nih.gov/mesh/D005128 http://id.loc.gov/authorities/genreForms/gf2014026109 http://id.loc.gov/authorities/genreForms/gf2017026140 |
| title | The Wills Eye handbook of ocular genetics / |
| title_alt | Handbook of ocular genetics |
| title_auth | The Wills Eye handbook of ocular genetics / |
| title_exact_search | The Wills Eye handbook of ocular genetics / |
| title_full | The Wills Eye handbook of ocular genetics / Alex V. Levin, Mario Zanolli, Jenina Capasso |
| title_fullStr | The Wills Eye handbook of ocular genetics / Alex V. Levin, Mario Zanolli, Jenina Capasso |
| title_full_unstemmed | The Wills Eye handbook of ocular genetics / Alex V. Levin, Mario Zanolli, Jenina Capasso |
| title_short | The Wills Eye handbook of ocular genetics / |
| title_sort | wills eye handbook of ocular genetics |
| topic | Eye Diseases Genetics Handbooks, manuals, etc. Eye Diseases. http://id.loc.gov/authorities/subjects/sh85046653 Genetic diseases and disorders. Eye Diseases, Hereditary genetics Eye Diseases, Hereditary therapy Eye Diseases https://id.nlm.nih.gov/mesh/D005128 Œil Maladies Génétique Guides, manuels, etc. Œil Maladies. MEDICAL Surgery General. bisacsh Eye Diseases fast |
| topic_facet | Eye Diseases Genetics Handbooks, manuals, etc. Eye Diseases. Genetic diseases and disorders. Eye Diseases, Hereditary genetics Eye Diseases, Hereditary therapy Eye Diseases Œil Maladies Génétique Guides, manuels, etc. Œil Maladies. MEDICAL Surgery General. Handbook Case Reports manuals (instructional materials) handbooks. Handbooks and manuals Handbooks and manuals. Case studies. Guides et manuels. Études de cas. |
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