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007			cr nn 008mamaa
008			180625s2018 gw | fo |||| 0|eng d
020			_a9783319108674
024	7		_a10.1007/978-3-319-10867-4 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
041	0		_aeng
050		4	_aRE661 _b.Z34 2018 EB
100	1		_aZahid, Sarwar _eautor _9672947
245	1	0	_aRetinal Dystrophy Gene Atlas _cby Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, Thiran Jayasundera
264		1	_aCham _bSpringer International Publishing : _bImprint: Springer _c2018
300			_a1 recurso en línea (XIII, 279 páginas) _b169 ilustraciones, 163 ilustraciones a color
336			_2rdacontent _aTexto _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aMedicine (Springer-11650)
505	0		_aPart I. Autosomal Dominant Inheritance -- 1. BEST1 -- 2. CRX -- 3. CTRP5 -- 4. EFEMP1 -- 5. ELOVL4 -- 6. FSCN2 -- 7. GNAT1 -- 8. GUCA1A -- 9. GUCA1B -- 10. GUCY2D -- 11. IMPDH1 (RP10) -- 12. JAG1 -- 13. KLHL7 -- 14. PROM1 -- 15. PRPF3 (RP18) -- 16. PRPF31 -- 17. PRPF8 (RP18) -- 18. PRPH2 (RDS) -- 19. RBP3 -- 20. RGR -- 21. RHO -- 22. RLPB1 -- 23. RP1 -- 24. RIMS1 -- 25. SEMA4A -- 26. SNRNP200 -- 27. TIMP3 -- 28. TOPORS -- 29. TTC8 -- 30. VCAN -- 31. WFS1 -- Part II. Autosomal Recessive Inheritance -- 32. ABCA4 -- 33. AIPL1 -- 34. ALMS1 -- 35. ARL6 -- 36. BBS1 -- 37. BBS10 -- 38. BBS12 -- 39. BBS2 -- 40. BBS4 -- 41. BBS5 -- 42. BBS7 -- 43. BBS9 -- 44. C2ORF71 -- 45. C8ORF37 -- 46. CDH23 -- 47. CEP290 -- 48. CERKL -- 49. CLN3 -- 50. CLRN1 -- 51. CNGA1 -- 52. CNGA3 -- 53. CNGB1 -- 54. CNGB3 -- 55. CRB1 -- 56. CYP4V2 -- 57. DFNB31 -- 58. DHDDS -- 59. EYS -- 60. FAM161A -- 61. GNAT2 -- 62. GPR98 -- 63. IDH3B -- 64. IMPG1 -- 65. IQCB1 -- 66. KCNV2 -- 67. KCNJ13 -- 68. LCA5 -- 69. LRAT -- 70. MAK -- 71. MERTK -- 72. MYO7A -- 73. NMNAT1 -- 74. NR2E3 -- 75. NRL -- 76. OAT -- 77. PDE6A -- 78. PDE6B -- 79. PDE6C -- 80. PDE6G -- 81. PDE6H -- 82. PEX7 -- 83. PHYH -- 84. PRCD -- 85. RD3 -- 86. RDH5 -- 87. RDH12 -- 88. RPE65 -- 89. RPGRIP1 -- 90. SAG -- 91. SPATA7 -- 92. TULP1 -- 93. USH1C -- 94. USH1G -- 95. USH2A -- 96. ZNF513 -- Part III. X-Linked Inheritance -- 97. CACNA1F -- 98. CHM -- 99. NYX -- 100. OPN1LW -- 101. RP2 -- 102. RPGR -- 103. RS1.
520	3		_aClassically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, Retinal Dystrophy Gene Atlas contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.
988			_aEBSPRINGER_2018
650		7	_2embne _9670079 _aDegeneración macular
650		7	_2embne _9190667 _aRetina _xEnfermedades
700	1		_aBranham, Kari. _eautor.
700	1		_aSchlegel, Dana. _eautor.
700	1		_aPennesi, Mark E. _eautor.
700	1		_aMichaelides, Michel. _eautor.
700	1		_aHeckenlively, John. _eautor. _0http://viaf.org/viaf/61642656
700	1		_aJayasundera, Thiran. _eautor.
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _0http://viaf.org/viaf/148105729 _9106996
776	0	8	_iEdición impresa: _z9783319108667
776	0	8	_iEdición impresa: _z9783319108681
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-10867-4 _zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
942			_2lcc _cLE _n0
998			_db _zSI