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Cover: 9783319108667 | Retinal Dystrophy Gene Atlas | Sarwar Zahid (u. a.) | Buch | xiii
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Retinal Dystrophy Gene Atlas
Buch von Sarwar Zahid (u. a.)
Sprache: Englisch

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Beschreibung
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.
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.
Über den Autor
Sarwar Zahid, MS, MD
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Kari Branham, MS, CGC
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Dana Schlegel, MS, MPH, CGC
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Mark Pennesi, PhD, MD
Casey Eye Institute
Portland, OR, USA
Michel Michaelides, MB, MD
Moorfields Eye Hospital
London, United Kingdom
John Heckenlively, MD
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Thiran Jayasundera, MD
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Zusammenfassung

Describes a gene and all its possible clinical phenotypes and patient characteristics, along with retinal photos depicting each possible phenotype

Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide

Contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene

Includes stunning clinical color photographs of the retina, autofluorescence imaging, and electrophysiologic findings and cross-sectional imaging

Serves as a resource to aid genetic diagnosis in patients with retinal dystrophies by retina specialists and pediatric ophthalmologists in the United States, as well as hundreds of fellows and residents that enter the workforce each year

Inhaltsverzeichnis
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.
Details
Erscheinungsjahr: 2018
Fachbereich: Andere Fachgebiete
Genre: Mathematik, Medizin, Naturwissenschaften, Technik
Rubrik: Wissenschaften
Medium: Buch
Inhalt: xiii
279 S.
6 s/w Illustr.
163 farbige Illustr.
279 p. 169 illus.
163 illus. in color.
ISBN-13: 9783319108667
ISBN-10: 3319108662
Sprache: Englisch
Herstellernummer: 978-3-319-10866-7
Ausstattung / Beilage: HC runder Rücken kaschiert
Einband: Gebunden
Autor: Zahid, Sarwar
Branham, Kari
Schlegel, Dana
Jayasundera, Thiran
Michaelides, Michel
Heckenlively, John
Pennesi, Mark E.
Auflage: 1st ed. 2018
Hersteller: Springer International Publishing
Springer International Publishing AG
Verantwortliche Person für die EU: Books on Demand GmbH, In de Tarpen 42, D-22848 Norderstedt, info@bod.de
Maße: 285 x 215 x 21 mm
Von/Mit: Sarwar Zahid (u. a.)
Erscheinungsdatum: 19.07.2018
Gewicht: 1,067 kg
Artikel-ID: 111059174
Über den Autor
Sarwar Zahid, MS, MD
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Kari Branham, MS, CGC
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Dana Schlegel, MS, MPH, CGC
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Mark Pennesi, PhD, MD
Casey Eye Institute
Portland, OR, USA
Michel Michaelides, MB, MD
Moorfields Eye Hospital
London, United Kingdom
John Heckenlively, MD
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Thiran Jayasundera, MD
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA
Zusammenfassung

Describes a gene and all its possible clinical phenotypes and patient characteristics, along with retinal photos depicting each possible phenotype

Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide

Contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene

Includes stunning clinical color photographs of the retina, autofluorescence imaging, and electrophysiologic findings and cross-sectional imaging

Serves as a resource to aid genetic diagnosis in patients with retinal dystrophies by retina specialists and pediatric ophthalmologists in the United States, as well as hundreds of fellows and residents that enter the workforce each year

Inhaltsverzeichnis
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.
Details
Erscheinungsjahr: 2018
Fachbereich: Andere Fachgebiete
Genre: Mathematik, Medizin, Naturwissenschaften, Technik
Rubrik: Wissenschaften
Medium: Buch
Inhalt: xiii
279 S.
6 s/w Illustr.
163 farbige Illustr.
279 p. 169 illus.
163 illus. in color.
ISBN-13: 9783319108667
ISBN-10: 3319108662
Sprache: Englisch
Herstellernummer: 978-3-319-10866-7
Ausstattung / Beilage: HC runder Rücken kaschiert
Einband: Gebunden
Autor: Zahid, Sarwar
Branham, Kari
Schlegel, Dana
Jayasundera, Thiran
Michaelides, Michel
Heckenlively, John
Pennesi, Mark E.
Auflage: 1st ed. 2018
Hersteller: Springer International Publishing
Springer International Publishing AG
Verantwortliche Person für die EU: Books on Demand GmbH, In de Tarpen 42, D-22848 Norderstedt, info@bod.de
Maße: 285 x 215 x 21 mm
Von/Mit: Sarwar Zahid (u. a.)
Erscheinungsdatum: 19.07.2018
Gewicht: 1,067 kg
Artikel-ID: 111059174
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