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Inherited Chorioretinal Dystrophies A Textbook and Atlas /
This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorde...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor Corporativo: | |
| Otros Autores: | , , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2014.
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| Edición: | 1st ed. 2014. |
| Temas: | |
| Acceso en línea: | Texto Completo |
MARC
| LEADER | 00000nam a22000005i 4500 | ||
|---|---|---|---|
| 001 | 978-3-540-69466-3 | ||
| 003 | DE-He213 | ||
| 005 | 20220119070318.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 140719s2014 gw | s |||| 0|eng d | ||
| 020 | |a 9783540694663 |9 978-3-540-69466-3 | ||
| 024 | 7 | |a 10.1007/978-3-540-69466-3 |2 doi | |
| 050 | 4 | |a RE1-994 | |
| 072 | 7 | |a MJQ |2 bicssc | |
| 072 | 7 | |a MED063000 |2 bisacsh | |
| 072 | 7 | |a MJQ |2 thema | |
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| 245 | 1 | 0 | |a Inherited Chorioretinal Dystrophies |h [electronic resource] : |b A Textbook and Atlas / |c edited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder. |
| 250 | |a 1st ed. 2014. | ||
| 264 | 1 | |a Berlin, Heidelberg : |b Springer Berlin Heidelberg : |b Imprint: Springer, |c 2014. | |
| 300 | |a XV, 488 p. 428 illus., 339 illus. in color. |b online resource. | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 347 | |a text file |b PDF |2 rda | ||
| 505 | 0 | |a Investigations -- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing -- Dark adaptation -- Fluorescein angiography -- ICG angiography -- Fundus autofluorescence in retinal dystrophies -- Spectral-domain optical coherence tomography in hereditary retinal dystrophies. Inherited Retinal Dystrophies -- Inherited stationary disorders of the retina -- Retinitis pigmentosa and allied disorders -- Leber congenital amaurosis -- Retinitis punctata albescens -- Usher Syndromes -- Cone and Cone-rod dystrophies -- Enhanced S-Cone syndrome -- Chorioretinopathies: Choroideremia and gyrate atrophy -- Late onset retinal degeneration -- Stargardt Disease -- Bestrophinopathies -- Retinal dystrophies associated with the PRPH2 gene -- Alström syndrome -- Bardet-Biedl syndrome -- Cohen syndrome -- Juvenile neuronal ceroid lipofuscinosis (JNCL) -- Adult Refsum disease -- Abetalipoproteinemia -- LCHAD deficiency -- Jalili syndrome -- Spinocerebellar ataxia -- Dominant cystoid macular dystrophy -- Autosomal dominant Stargardt-like macular dystrophy (ELOVL4). - Spastic paraplegia and retinal degeneration. Kjellin syndrome -- Autosomal dominant drusen -- Cuticular drusen -- Extensive macular atrophy with pseudodrusen-like appearance (EMAP) -- Congenital hypotrichosis with juvenile macular dystrophy -- Mitochondrial retinopathies -- Sorsby fundus dystrophy -- Bietti crystalline corneoretinal dystrophy -- Cystinosis -- Oxalosis -- Alport syndrome -- X-linked retinoschisis -- Paramacular choriocapillaris atrophy -- Exudative vitreoretinopathy -- Stickler syndrome -- Wagner syndrome -- Incontinentia pigmenti Type II (IP2) -- Ganglion cell disease -- Pseudoxanthoma elasticum -- Aicardi Syndrome -- Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Azial-Dufier syndrome) -- Alagille syndrome -- Future therapies for retinitis pigmentosa. | |
| 520 | |a This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas. | ||
| 650 | 0 | |a Ophthalmology. | |
| 650 | 0 | |a Medical genetics. | |
| 650 | 0 | |a Pathology. | |
| 650 | 1 | 4 | |a Ophthalmology. |
| 650 | 2 | 4 | |a Medical Genetics. |
| 650 | 2 | 4 | |a Pathology. |
| 700 | 1 | |a Puech, Bernard. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 700 | 1 | |a De Laey, Jean-Jacques. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 700 | 1 | |a Holder, Graham E. |e editor. |4 edt |4 http://id.loc.gov/vocabulary/relators/edt | |
| 710 | 2 | |a SpringerLink (Online service) | |
| 773 | 0 | |t Springer Nature eBook | |
| 776 | 0 | 8 | |i Printed edition: |z 9783540865650 |
| 776 | 0 | 8 | |i Printed edition: |z 9783540694649 |
| 776 | 0 | 8 | |i Printed edition: |z 9783662518014 |
| 856 | 4 | 0 | |u https://doi.uam.elogim.com/10.1007/978-3-540-69466-3 |z Texto Completo |
| 912 | |a ZDB-2-SME | ||
| 912 | |a ZDB-2-SXM | ||
| 950 | |a Medicine (SpringerNature-11650) | ||
| 950 | |a Medicine (R0) (SpringerNature-43714) | ||