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040			_aES-MaUEC _bspa _cES-MaUEC
336			_aTexto _btxt _2rdacontent
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _1http://viaf.org/viaf/148105729 _9106996
999			_c106984 _d106984 _x1
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005			20230102113321.0
008			181221s2018 gw | s |||| 0|eng d
020			_a9783319950464
024	7		_a10.1007/978-3-319-95046-4 _2doi
050		4	_aRB155.8 _b2018 EB
245	0	0	_aAtlas of Inherited Retinal Diseases _cedited by Stephen H. Tsang, Tarun Sharma.
264		1	_aCham _bSpringer International Publishing _c2018
300			_a1 recurso en línea (XIX, 274 páginas 171 ilustraciones, 151 ilustraciones a color)
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF _2rda
490	0		_aAdvances in Experimental Medicine and Biology _x0065-2598 _v1085
490	0		_aBiomedical and Life Sciences (Springer-11642)
505	0		_aSection 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	3		_aThis 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.
988			_aEBSPRINGER_BIOMEDLIFE_2019
650		7	_aTerapia genética _2embne _9150702
700	1		_aTsang, Stephen H _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/296327442 _984629
700	1		_aSharma, Tarun _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n97101448 _1http://viaf.org/viaf/288720083
776	0	8	_iPrinted edition: _z9783319950457
776	0	8	_iPrinted edition: _z9783319950471
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-95046-4 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_aSI _aSI _aSI _b06/2019 _cm _dz _feng _ggw _h0 _eIG _zSI