Atlas on inherited retinal diseases /
Written and compiled by leading names in stem cell research, Atlas of inherited diseases traces more of the genetic medicine behind these disorders than its closest competitor. This is a package of illustrations -- black and white and color -- enhanced and expanded upon by the accompanying text.
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Online Access: |
Full text (MCPHS users only) |
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Other Authors: | , |
Format: | Electronic eBook |
Language: | English |
Published: |
Cham, Switzerland :
Springer Nature,
2019
|
Series: | Advances in experimental medicine and biology ;
v. 1085. |
Subjects: |
MARC
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245 | 0 | 0 | |a Atlas on inherited retinal diseases / |c [edited by] Stephen H. Tsang, Tarun Sharma. |
264 | 1 | |a Cham, Switzerland : |b Springer Nature, |c [2019] | |
264 | 4 | |c ©2018 | |
300 | |a 1 online resource (xix, 274 pages) : |b illustrations. | ||
336 | |a text |b txt |2 rdacontent | ||
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490 | 1 | |a Advances in experimental medicine and biology ; |v v. 1085 | |
504 | |a Includes bibliographical references and index. | ||
505 | 0 | |a Retinal Histology and Anatomical Landmarks -- Fluorescein Angiography -- Optical Coherence Tomography -- Fundus Autofluorescence -- Electroretinography -- Electrooculography -- Glossary of Relevant Genetic and Molecular/Cell Biology -- X-linked Retinitis Pigmentosa -- X-linked Choroideremia -- X-linked Juvenile Retinoschisis -- X-linked Ocular Albinism -- Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR) -- Congenital Stationary Night Blindness -- Blue Cone Monochromatism -- Autosomal Dominant Retinitis Pigmentosa -- Best Vitelliform Macular Dystrophy -- Pattern Dystrophy -- Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) -- Occult Macular Dystrophy -- Sorsby Pseudoinflammatory Fundus Dystrophy -- North Carolina Macular Dystrophy -- Pigmented Paravenous Chorioretinal Atrophy (PPCRA) -- Late-Onset Retinal Degeneration -- Rod Monochromatism (Achromatopsia) -- Retinitis Pigmentosa (Non-syndromic) -- Leber Congenital Amaurosis -- Stargardt Disease -- Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) -- Best Vitelliform Macular Dystrophy -- Mitochondrial Disorder: Kearns-Sayre Syndrome -- Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness -- Ciliopathy: Usher Syndrome -- Ciliopathy: Bardet-Biedl Syndrome -- Ciliopathy: Senior-Løken Syndrome -- Ciliopathy: Alstr̲m Syndrome -- Ciliopathy: Sj̲gren-Larsson Syndrome -- Inborn Errors of Metabolism: Gyrate Atrophy -- Inborn Errors of Metabolism: Pseudoxanthoma Elasticum -- Inborn Errors of Metabolism: Refsum Disease -- Inborn Errors of Metabolism: Bietti Crystalline Dystrophy -- Extracellular Matrix: Alport Syndrome -- Von Hippel-Lindau Disease -- Tuberous Sclerosis -- Neurofibromatosis -- Rubella Retinopathy -- Syphilis -- Autoimmune Retinopathy -- Drug-Induced Retinal Toxicity -- Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases -- Diffuse Unilateral Subacute Neuroretinitis (DUSN) -- A Practical Approach to Retinal Dystrophies -- Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding. | |
505 | 0 | |a Section I: Basic Knowledge. Retinal Histology and Anatomical Landmarks -- Fluorescein Angiography -- Optical Coherence Tomography -- Fundus Autofluorescence -- Electroretinography -- Electrooculography -- Glossary of Relevant Genetic and Molecular/Cell Biology -- Section II: X-linked Forms -- X-Linked Retinitis Pigmentosa -- X-Linked Choroideremia -- X-Linked Juvenile Retinoschisis -- X-Linked Ocular Albinism -- Progressive Cone Dystrophy and Cone-Rod Dystrophy -- Congenital Stationary Night Blindness -- Blue Cone Monochromatism -- Section III: Autosomal Dominant Forms -- Autosomal Dominant Retinitis Pigmentosa -- Best Vitelliform Macular Dystrophy -- Pattern Dystrophy -- Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) -- Occult Macular Dystrophy -- Sorsby Pseudoinflammatory Fundus Dystrophy -- North Carolina Macular Dystrophy -- Pigmented Paravenous Chorioretinal Atrophy (PPCRA) -- Late-Onset Retinal Degeneration -- Section IV: Autosomal Recessive Form -- Rod Monochromatism (Achromatopsia) -- Retinitis Pigmentosa (Non-syndromic) -- Leber Congenital Amaurosis -- Stargardt Disease -- Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) -- Best Vitelliform Macular Dystrophy -- Section V: Systemic Disorders -- Mitochondrial Disorder: Kearns-Sayre Syndrome -- Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness -- Ciliopathy: Usher Syndrome -- Ciliopathy: Bardet-Biedl Syndrome -- Ciliopathy: Senior-Løken Syndrome -- Ciliopathy: Alström Syndrome -- Ciliopathy: Sjögren-Larsson Syndrome -- Inborn Errors of Metabolism: Gyrate Atrophy -- Inborn Errors of Metabolism: Pseudoxanthoma Elasticum -- Inborn Errors of Metabolism: Refsum Disease -- Inborn Errors of Metabolism: Bietti Crystalline Dystrophy -- Extracellular Matrix: Alport Syndrome -- Section VI: Phakomatoses -- Von Hippel-Lindau Disease -- Tuberous Sclerosis -- Neurofibromatosis -- Section VII: Phenocopies -- Rubella Retinopathy -- Syphilis -- Autoimmune Retinopathy -- Drug-Induced Retinal Toxicity -- Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases -- Diffuse Unilateral Subacute Neuroretinitis (DUSN) -- Section VIII: Managing IRDs in Clinics -- A Practical Approach to Retinal Dystrophies -- Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding. | |
520 | |a Written and compiled by leading names in stem cell research, Atlas of inherited diseases traces more of the genetic medicine behind these disorders than its closest competitor. This is a package of illustrations -- black and white and color -- enhanced and expanded upon by the accompanying text. | ||
650 | 0 | |a Retina |x Diseases. |0 sh 85113328 | |
650 | 2 | |a Retinal Diseases. |0 (DNLM)D012164 | |
700 | 1 | |a Tsang, Stephen H., |e editor. |0 nb2013004381 | |
700 | 1 | |a Sharma, Tarun, |e editor. | |
830 | 0 | |a Advances in experimental medicine and biology ; |v v. 1085. |0 n 42001229 | |
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