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000857567 020__ $$a9783319950464$$q(electronic book)
000857567 020__ $$a3319950460$$q(electronic book)
000857567 020__ $$z9783319950457
000857567 035__ $$aSP(OCoLC)on1080432291
000857567 035__ $$aSP(OCoLC)1080432291
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000857567 049__ $$aISEA
000857567 050_4 $$aRE551
000857567 08204 $$a617.7/35$$223
000857567 1001_ $$aTsang, Stephen H.,$$eauthor.
000857567 24510 $$aAtlas of inherited retinal diseases /$$cStephen H. Tsang, Taurn Sharma.
000857567 264_1 $$aCham :$$bSpringer,$$c[2018]
000857567 264_4 $$c©2018
000857567 300__ $$a1 online resource (xix, 274 pages) :$$billustrations.
000857567 336__ $$atext$$btxt$$2rdacontent
000857567 337__ $$acomputer$$bc$$2rdamedia
000857567 338__ $$aonline resource$$bcr$$2rdacarrier
000857567 4901_ $$aAdvances in experimental medicine and biology,$$x2214-8019 ;$$vvolume 1085
000857567 504__ $$aIncludes bibliographical references and index.
000857567 5050_ $$aBasic knowledge. Retinal histology and anatomical landmarks -- Fluorescein angiography -- Optical coherence tomography -- Fundus autofluorescence -- Electroretinography -- Electrooculography -- Glossary of relevant genetic and molecular/cell biology -- 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 (XL, AD, and AR) -- Congenital stationary night blindness -- Blue cone monochromatism -- 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 -- 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 -- 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 -- Phakomatoses. Von Hippel-Lindau disease -- Tuberous sclerosis -- Neurofibromatosis -- Phenocopies. Rubella retinopathy -- Syphilis -- Autoimmune retinopathy -- Drug-induced retinal toxicity -- Acute zonal occult outer retinopathy (AZOOR) and related diseases -- Diffuse unilateral subacute neuroretinitis (DUSN) -- Managing IRDs in clinics. A practical approach to retinal dystrophies -- Genetic testing for inherited retinal dystrophy: basic understanding.
000857567 506__ $$aAccess limited to authorized users.
000857567 520__ $$a"This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they are related to the most frequently encountered genes. It will also meet the hitherto unmet need of PhD students who would benefit from seeing the phenotypes of the genes they work on and study. Further, because it would help geneticists use and familiarize themselves with the candidate gene approach to test patients' genomes, enabling them to test more efficiently and cost-efficiently (as the cost of genetic testing is quite high and spiralling higher). This invaluable atlas is organized into eight sections starting with the basic knowledge on retinal imaging as an introduction to the subject matter, then diseases are listed according to their inheritance pattern while disorders with extraocular manifestations are grouped by their defining features. This structure will be intuitive to clinicians and students studying IRDs"--Publisher's description.
000857567 588__ $$aDescription based on online resource; title from electronic title page (SpringerLink, viewed January 17, 2019).
000857567 650_0 $$aRetina$$xDiseases$$xGenetic aspects$$vAtlases.
000857567 650_0 $$aGenetic disorders$$vAtlases.
000857567 7001_ $$aSharma, Tarun K.,$$eauthor.
000857567 77608 $$iPrint version:$$aTsang, Stephen H.$$tAtlas of inherited retinal diseases.$$dCham : Springer, [2018]$$z9783319950457$$w(DLC)  2018959615$$w(OCoLC)1038435359
000857567 830_0 $$aAdvances in experimental medicine and biology ;$$vv. 1085.
000857567 852__ $$bebk
000857567 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-319-95046-4$$zOnline Access$$91397441.1
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000857567 980__ $$aEBOOK
000857567 980__ $$aBIB
000857567 982__ $$aEbook
000857567 983__ $$aOnline
000857567 994__ $$a92$$bISE