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Retinal Dystrophy Gene Atlas
Retinal Dystrophy Gene Atlas
Retinal Dystrophy Gene Atlas
Zahid, Branham, Schlegel, Pennesi, Michaelides, Heckenlively, Jayasundera
Editore
Springer
Anno
2018
Pagine
279
ISBN
9783319108667
0 Recensioni Aggiungi la tua recensione
180,00 €

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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.

  • ABCA4

    Zahid, Sarwar, MS, MD (et al.)

    Pages 1-5

  • AIPL1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 7-9

  • ALMS1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 11-12

  • ARL6/BBS3

    Zahid, Sarwar, MS, MD (et al.)

    Pages 13-14

  • BBS1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 15-18

  • BBS2

    Zahid, Sarwar, MS, MD (et al.)

    Pages 19-21

  • BBS4

    Zahid, Sarwar, MS, MD (et al.)

    Pages 23-24

  • BBS5

    Zahid, Sarwar, MS, MD (et al.)

    Pages 25-26

  • BBS7

    Zahid, Sarwar, MS, MD (et al.)

    Pages 27-28

  • BBS9

    Zahid, Sarwar, MS, MD (et al.)

    Pages 29-30

  • BBS10

    Zahid, Sarwar, MS, MD (et al.)

    Pages 31-32

  • BBS12

    Zahid, Sarwar, MS, MD (et al.)

    Pages 33-35

  • BEST1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 37-41

  • CACNA1F

    Zahid, Sarwar, MS, MD (et al.)

    Pages 43-46

  • CEP290

    Zahid, Sarwar, MS, MD (et al.)

    Pages 47-49

  • CERKL

    Zahid, Sarwar, MS, MD (et al.)

    Pages 51-53

  • CHM

    Zahid, Sarwar, MS, MD (et al.)

    Pages 55-57

  • CLN3

    Zahid, Sarwar, MS, MD (et al.)

    Pages 59-60

  • CLRN1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 61-63

  • CNGA3

    Zahid, Sarwar, MS, MD (et al.)

    Pages 65-66

  • CNGB1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 67-70

  • CNGB3

    Zahid, Sarwar, MS, MD (et al.)

    Pages 71-74

  • CRB1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 75-78

  • CRX

    Zahid, Sarwar, MS, MD (et al.)

    Pages 79-81

  • C1QTNF5

    Zahid, Sarwar, MS, MD (et al.)

    Pages 83-84

  • CYP4V2

    Zahid, Sarwar, MS, MD (et al.)

    Pages 85-87

  • DHDDS

    Zahid, Sarwar, MS, MD (et al.)

    Pages 89-90

  • EFEMP1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 91-92

  • ELOVL4

    Zahid, Sarwar, MS, MD (et al.)

    Pages 93-94

  • EYS

    Zahid, Sarwar, MS, MD (et al.)

    Pages 95-97

  • FAM161A

    Zahid, Sarwar, MS, MD (et al.)

    Pages 99-100

  • GNAT1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 101-101

  • GNAT2

    Zahid, Sarwar, MS, MD (et al.)

    Pages 103-105

  • GPR98

    Zahid, Sarwar, MS, MD (et al.)

    Pages 107-109

  • GUCA1A

    Zahid, Sarwar, MS, MD (et al.)

    Pages 111-111

  • GUCA1B

    Zahid, Sarwar, MS, MD (et al.)

    Pages 113-113

  • GUCY2D

    Zahid, Sarwar, MS, MD (et al.)

    Pages 115-116

  • IMPDH1 (RP10)

    Zahid, Sarwar, MS, MD (et al.)

    Pages 117-119

  • IMPG2

    Zahid, Sarwar, MS, MD (et al.)

    Pages 121-122

  • IQCB1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 123-124

  • KCNV2

    Zahid, Sarwar, MS, MD (et al.)

    Pages 125-127

  • KLHL7

    Zahid, Sarwar, MS, MD (et al.)

    Pages 129-131

  • LCA5

    Zahid, Sarwar, MS, MD (et al.)

    Pages 133-135

  • LRAT

    Zahid, Sarwar, MS, MD (et al.)

    Pages 137-138

  • MAK

    Zahid, Sarwar, MS, MD (et al.)

    Pages 139-140

  • MERTK

    Zahid, Sarwar, MS, MD (et al.)

    Pages 141-146

  • MYO7A

    Zahid, Sarwar, MS, MD (et al.)

    Pages 147-149

  • NMNAT1

    Zahid, Sarwar, MS, MD (et al.)

    Pages 151-152

  • NR2E3

    Zahid, Sarwar, MS, MD (et al.)

    Pages 153-159

 

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