Coverart for item
The Resource Genetic diseases of the eye, edited by Elias I. Traboulsi, (electronic resource)

Genetic diseases of the eye, edited by Elias I. Traboulsi, (electronic resource)

Label
Genetic diseases of the eye
Title
Genetic diseases of the eye
Statement of responsibility
edited by Elias I. Traboulsi
Contributor
Subject
Language
eng
Member of
Cataloging source
DNLM/DLC
Illustrations
illustrations
Index
index present
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
http://library.link/vocab/relatedWorkOrContributorName
Traboulsi, Elias I
Series statement
Oxford monographs on medical genetics
Series volume
61
http://library.link/vocab/subjectName
  • Eye
  • Eye
Label
Genetic diseases of the eye, edited by Elias I. Traboulsi, (electronic resource)
Instantiates
Publication
Bibliography note
Includes bibliographical references and index
Contents
  • Eduardo Duarte Silva and Olof H. Sundin
  • Chapter 5: Anophthalmia, colobomatous, microphthalmia, and optic fissure closure defects
  • Brian P. Brooks and Elias I. Traboulsi
  • Chapter 6: Cornea plana
  • Arif O. Khan
  • Chapter 7: Malformations of the anterior segment of the eye
  • James E. H. Smith and Elias I. Traboulsi
  • Chapter 8: Aniridia
  • Reecha Sachdeva and Elias I. Traboulsi
  • Chapter 9: Congenital anomalies of the optic nerve
  • Section One: Malformations
  • Brian P. Brooks and Elias I. Traboulsi
  • Chapter 10: Congenital abnormalities of the retinal pigment epithelium
  • Arturo Santos and Elias I. Traboulsi
  • Chapter 11: Prenatal imaging of the eye and ocular adnexae
  • Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa, Elias I. Traboulsi, and Arun D. Singh
  • Chapter 12: Ocular manifestations of syndromes with craniofacial abnormalities
  • Wadih M. Zein, Amy Feldman Lewanda, Elias I. Traboulsi, and Ethylin Wang Jabs
  • Chapter 13: Ocular manifestations of chromosomal abnormalities
  • Sorath Noorani Siddiqui, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn --
  • Chapter 1: Embryology of the eye and the role of developmental genes
  • Olof H. Sundin
  • Chapter 2: Teratogens and ocular malformations
  • Kerstin Strömland and Marilyn T. Miller
  • Chapter 3: Malformations of the ocular adnexae
  • Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi
  • Chapter 4: Nanophthalmos
  • Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi
  • Chapter 18: Molecular genetics of primary open-angle glaucoma
  • Anne H. Child, Filipe M. Pereira da Silva, Jose Aragon-Martin, Roshanak Sharafieh, and Mansoor Sarfarazi
  • Chapter 19: Genetics of congenital cataracts
  • Madhavan Jagadeesan and Elise Héon --
  • Section Two: Refractive errors, cornea, glaucoma, and cataracts
  • Chapter 14: Inheritance of refractive errors
  • Wadih M. Zein and Arlene V. Drack
  • Chapter 15: Corneal dystrophies
  • Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar
  • Chapter 16: The genetics of keratoconus
  • Marzena Gajecka
  • Chapter 17: Molecular genetics of primary congenital glaucoma
  • Henry A. Ferreyra and John R. Heckenlively
  • Chapter 24: Juvenile retinoschisis
  • Paul A. Sieving and Lucia Ziccardi
  • Chapter 25: Achromatopsia-rod monochromacy
  • Susanne Kohl
  • Chapter 26: Cone dysfunction syndromes, cone dystrophies, and cone-rod degenerations
  • Elias I. Traboulsi
  • Chapter 27: North Carolina macular dystrophy/MCRD1
  • Kean T. Oh and Kent Small
  • Chapter 28: Bestrophinopathies
  • Section Three: Retina and optic nerve
  • Bart P. Leroy
  • Chapter 29: NR2E3-linked retinal degenerations: enhanced S-cone sensitivity syndrome, Goldmann-Favre syndrome, clumped pigmentary retinal degeneration, and retinitis pigmentosa
  • Daniel F. Schorderet, Neena Haider, and Pascal Escher
  • Chapter 30: Disorders of color vision
  • Samir S. Deeb and Arno G. Motulsky
  • Chapter 31: Stargardt disease
  • Aimee V. Chappelow and Elias I. Traboulsi
  • Chapter 32: Congenital stationary night blindness
  • Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz
  • Chapter 33: Choroideremia
  • Chapter 20: Retinal function testing and genetic disease
  • Ian M. MacDonald and Miguel C. Seabra
  • Chapter 34: Leber congenital amaurosis: clinical, genetic, and therapeutic perspectives
  • Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander
  • Chapter 35: Familial exudative vitreoretinopathy, Norrie disease, and other developmental retinal vascular disorders
  • Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi
  • Chapter 36: Hereditary vitreoretinopathies
  • Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi
  • Chapter 37: Genetics of age-related maculopathy
  • Oluwatoyin Fafowora and Michael B. Gorin
  • Chapter 38: Pattern dystrophies of the RPE
  • Luis A.R. Gabriel, Neal S. Peachey, and Janet S. Sunness
  • Kean T. Oh
  • Chapter 39: Hereditary optic neuropathies
  • David A. Mackey
  • Chapter 40: Pigmentary retinopathy in systemic inherited disease
  • Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi --
  • Chapter 21: Genetic pathways in retinal degenerations and targets for therapy
  • Loh-Shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, and Stephen H. Tsang
  • Chapter 22: Proteomic biomarkers for age-related macular degeneration
  • John W. Crabb
  • Chapter 23: Retinitis pigmentosa
  • Section Four: Eye movement disorders
  • Chapter 41: The genetics of nystagmus and associated inherited diseases
  • Shery Thomas and Irene Gottlob
  • Chapter 42: The genetics of strabismus and associated disorders
  • Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle --
  • Michelle M. Ariss, Nicola K. Ragge, Manikum Moodley, and Elias I. Traboulsi --
  • Section Five: Systemic disease and the eye
  • Chapter 43: Ectopia lentis and associated systemic disease
  • Elias I. Traboulsi and Suneel S. Apte
  • Chapter 44: Peroxisomal disorders
  • Mark E. Pennesi and Richard G. Weleber
  • Chapter 45: Albinism
  • Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi
  • Chapter 46: The phakomatoses
  • Section Six: Cancer genetics and the eye
  • Chapter 47: Systemic associations of eyelid tumors
  • Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh
  • Chapter 48: Genetic aspects of uveal melanoma
  • Werner Wackernagel and Arun D. Singh
  • Chapter 49: Genetics of retinoblastoma
  • Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh --
  • Section Seven: Treatment
  • Chapter 50: Vision rehabilitation of the patient with genetic eye disease
  • Joseph L. DeRose
  • Chapter 51: Genetic counseling for genetic eye disorders
  • Joanne E. Sutherland
  • Chapter 52: Gene therapy for ocular diseases
  • Ben J. Kim and Nadia K. Waheed
Control code
ssj0000554785
Dimensions
unknown
Edition
2nd ed
Extent
1 online resource (xv, 923 p.)
Form of item
online
Governing access note
Access restricted to subscribing institutions
Isbn
9780195326147
Isbn Type
(alk. paper)
Lccn
2011010629
Other physical details
ill. (some col.)
Specific material designation
remote
System control number
(WaSeSS)ssj0000554785
Label
Genetic diseases of the eye, edited by Elias I. Traboulsi, (electronic resource)
Publication
Bibliography note
Includes bibliographical references and index
Contents
  • Eduardo Duarte Silva and Olof H. Sundin
  • Chapter 5: Anophthalmia, colobomatous, microphthalmia, and optic fissure closure defects
  • Brian P. Brooks and Elias I. Traboulsi
  • Chapter 6: Cornea plana
  • Arif O. Khan
  • Chapter 7: Malformations of the anterior segment of the eye
  • James E. H. Smith and Elias I. Traboulsi
  • Chapter 8: Aniridia
  • Reecha Sachdeva and Elias I. Traboulsi
  • Chapter 9: Congenital anomalies of the optic nerve
  • Section One: Malformations
  • Brian P. Brooks and Elias I. Traboulsi
  • Chapter 10: Congenital abnormalities of the retinal pigment epithelium
  • Arturo Santos and Elias I. Traboulsi
  • Chapter 11: Prenatal imaging of the eye and ocular adnexae
  • Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa, Elias I. Traboulsi, and Arun D. Singh
  • Chapter 12: Ocular manifestations of syndromes with craniofacial abnormalities
  • Wadih M. Zein, Amy Feldman Lewanda, Elias I. Traboulsi, and Ethylin Wang Jabs
  • Chapter 13: Ocular manifestations of chromosomal abnormalities
  • Sorath Noorani Siddiqui, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn --
  • Chapter 1: Embryology of the eye and the role of developmental genes
  • Olof H. Sundin
  • Chapter 2: Teratogens and ocular malformations
  • Kerstin Strömland and Marilyn T. Miller
  • Chapter 3: Malformations of the ocular adnexae
  • Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi
  • Chapter 4: Nanophthalmos
  • Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi
  • Chapter 18: Molecular genetics of primary open-angle glaucoma
  • Anne H. Child, Filipe M. Pereira da Silva, Jose Aragon-Martin, Roshanak Sharafieh, and Mansoor Sarfarazi
  • Chapter 19: Genetics of congenital cataracts
  • Madhavan Jagadeesan and Elise Héon --
  • Section Two: Refractive errors, cornea, glaucoma, and cataracts
  • Chapter 14: Inheritance of refractive errors
  • Wadih M. Zein and Arlene V. Drack
  • Chapter 15: Corneal dystrophies
  • Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar
  • Chapter 16: The genetics of keratoconus
  • Marzena Gajecka
  • Chapter 17: Molecular genetics of primary congenital glaucoma
  • Henry A. Ferreyra and John R. Heckenlively
  • Chapter 24: Juvenile retinoschisis
  • Paul A. Sieving and Lucia Ziccardi
  • Chapter 25: Achromatopsia-rod monochromacy
  • Susanne Kohl
  • Chapter 26: Cone dysfunction syndromes, cone dystrophies, and cone-rod degenerations
  • Elias I. Traboulsi
  • Chapter 27: North Carolina macular dystrophy/MCRD1
  • Kean T. Oh and Kent Small
  • Chapter 28: Bestrophinopathies
  • Section Three: Retina and optic nerve
  • Bart P. Leroy
  • Chapter 29: NR2E3-linked retinal degenerations: enhanced S-cone sensitivity syndrome, Goldmann-Favre syndrome, clumped pigmentary retinal degeneration, and retinitis pigmentosa
  • Daniel F. Schorderet, Neena Haider, and Pascal Escher
  • Chapter 30: Disorders of color vision
  • Samir S. Deeb and Arno G. Motulsky
  • Chapter 31: Stargardt disease
  • Aimee V. Chappelow and Elias I. Traboulsi
  • Chapter 32: Congenital stationary night blindness
  • Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz
  • Chapter 33: Choroideremia
  • Chapter 20: Retinal function testing and genetic disease
  • Ian M. MacDonald and Miguel C. Seabra
  • Chapter 34: Leber congenital amaurosis: clinical, genetic, and therapeutic perspectives
  • Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander
  • Chapter 35: Familial exudative vitreoretinopathy, Norrie disease, and other developmental retinal vascular disorders
  • Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi
  • Chapter 36: Hereditary vitreoretinopathies
  • Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi
  • Chapter 37: Genetics of age-related maculopathy
  • Oluwatoyin Fafowora and Michael B. Gorin
  • Chapter 38: Pattern dystrophies of the RPE
  • Luis A.R. Gabriel, Neal S. Peachey, and Janet S. Sunness
  • Kean T. Oh
  • Chapter 39: Hereditary optic neuropathies
  • David A. Mackey
  • Chapter 40: Pigmentary retinopathy in systemic inherited disease
  • Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi --
  • Chapter 21: Genetic pathways in retinal degenerations and targets for therapy
  • Loh-Shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, and Stephen H. Tsang
  • Chapter 22: Proteomic biomarkers for age-related macular degeneration
  • John W. Crabb
  • Chapter 23: Retinitis pigmentosa
  • Section Four: Eye movement disorders
  • Chapter 41: The genetics of nystagmus and associated inherited diseases
  • Shery Thomas and Irene Gottlob
  • Chapter 42: The genetics of strabismus and associated disorders
  • Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle --
  • Michelle M. Ariss, Nicola K. Ragge, Manikum Moodley, and Elias I. Traboulsi --
  • Section Five: Systemic disease and the eye
  • Chapter 43: Ectopia lentis and associated systemic disease
  • Elias I. Traboulsi and Suneel S. Apte
  • Chapter 44: Peroxisomal disorders
  • Mark E. Pennesi and Richard G. Weleber
  • Chapter 45: Albinism
  • Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi
  • Chapter 46: The phakomatoses
  • Section Six: Cancer genetics and the eye
  • Chapter 47: Systemic associations of eyelid tumors
  • Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh
  • Chapter 48: Genetic aspects of uveal melanoma
  • Werner Wackernagel and Arun D. Singh
  • Chapter 49: Genetics of retinoblastoma
  • Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh --
  • Section Seven: Treatment
  • Chapter 50: Vision rehabilitation of the patient with genetic eye disease
  • Joseph L. DeRose
  • Chapter 51: Genetic counseling for genetic eye disorders
  • Joanne E. Sutherland
  • Chapter 52: Gene therapy for ocular diseases
  • Ben J. Kim and Nadia K. Waheed
Control code
ssj0000554785
Dimensions
unknown
Edition
2nd ed
Extent
1 online resource (xv, 923 p.)
Form of item
online
Governing access note
Access restricted to subscribing institutions
Isbn
9780195326147
Isbn Type
(alk. paper)
Lccn
2011010629
Other physical details
ill. (some col.)
Specific material designation
remote
System control number
(WaSeSS)ssj0000554785

Library Locations

    • Bowdoin College LibraryBorrow it
      3000 College Station, Brunswick, ME, 04011-8421, US
      43.907093 -69.963997
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