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Retinal Dystrophy Gene Atlas - Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, Thiran Jayasundera

Retinal Dystrophy Gene Atlas

Buch | Hardcover
XIII, 279 Seiten
2018 | 1st ed. 2018
Springer International Publishing (Verlag)
978-3-319-10866-7 (ISBN)
CHF 299,55 inkl. MwSt
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Classically, 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.

Sarwar Zahid, MS, MDUniversity of Michigan Kellogg Eye CenterAnn Arbor, MI, USA Kari Branham, MS, CGC University of Michigan Kellogg Eye CenterAnn Arbor, MI, USA Dana Schlegel, MS, MPH, CGC University of MichiganKellogg Eye CenterAnn Arbor, MI, USA Mark Pennesi, PhD, MDCasey Eye InstitutePortland, OR, USA Michel Michaelides, MB, MDMoorfields Eye HospitalLondon, United Kingdom John Heckenlively, MDUniversity of Michigan Kellogg Eye Center Ann Arbor, MI, USA Thiran Jayasundera, MDUniversity of Michigan Kellogg Eye CenterAnn Arbor, MI, USA

Part 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.

Erscheint lt. Verlag 19.7.2018
Zusatzinfo XIII, 279 p. 169 illus., 163 illus. in color.
Verlagsort Cham
Sprache englisch
Maße 210 x 279 mm
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Augenheilkunde
Schlagworte Autosomal Dominant Inheritance • Autosomal Recessive Inheritance • Eye disease • Linked Inheritance • Ophthalmology • Retinal Dystrophy
ISBN-10 3-319-10866-2 / 3319108662
ISBN-13 978-3-319-10866-7 / 9783319108667
Zustand Neuware
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