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010 a| 2011010629;

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016 7 a| 1015561062| DNLM;

016 7 a| 0159030902| Uk;

020 a| 9780195326147 (alk. paper);

020 a| 0195326148 (alk. paper);

035 a| (WaSeSS)ssj0000554785;

042 a| pcc;

049 a| EREEa| NEHH;

050 00 a| RE906b| .G39 2012;

060 10 a| WW 140;

082 00 a| 617.7/0422| 22;

245 00 a| Genetic diseases of the eyeh| [electronic resource] /c| edited by Elias I. Traboulsi.;

250 a| 2nd ed.;

260 a| New York :b| Oxford University Press,;

300 a| xv, 923 p. :b| ill. (some col.) ;c| 28 cm.;

490 1 a| Oxford monographs on medical genetics ;v| 61;

504 a| Includes bibliographical references and index.;

505 00 g| Section One: Malformations --t| Chapter 1: Embryology of the eye and the role of developmental genes /r| Olof H. Sundin --t| Chapter 2: Teratogens and ocular malformations /r| Kerstin Strömland and Marilyn T. Miller --t| Chapter 3: Malformations of the ocular adnexae /r| Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi --t| Chapter 4: Nanophthalmos /r| Eduardo Duarte Silva and Olof H. Sundin --t| Chapter 5: Anophthalmia, colobomatous, microphthalmia, and optic fissure closure defects /r| Brian P. Brooks and Elias I. Traboulsi --t| Chapter 6: Cornea plana /r| Arif O. Khan --t| Chapter 7: Malformations of the anterior segment of the eye /r| James E. H. Smith and Elias I. Traboulsi --t| Chapter 8: Aniridia /r| Reecha Sachdeva and Elias I. Traboulsi --t| Chapter 9: Congenital anomalies of the optic nerve /r| Brian P. Brooks and Elias I. Traboulsi --t| Chapter 10: Congenital abnormalities of the retinal pigment epithelium /r| Arturo Santos and Elias I. Traboulsi --t| Chapter 11: Prenatal imaging of the eye and ocular adnexae /r| Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa, Elias I. Traboulsi, and Arun D. Singh --t| Chapter 12: Ocular manifestations of syndromes with craniofacial abnormalities /r| Wadih M. Zein, Amy Feldman Lewanda, Elias I. Traboulsi, and Ethylin Wang Jabs --t| Chapter 13: Ocular manifestations of chromosomal abnormalities /r| Sorath Noorani Siddiqui, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn --;

505 00 g| Section Two: Refractive errors, cornea, glaucoma, and cataracts --t| Chapter 14: Inheritance of refractive errors /r| Wadih M. Zein and Arlene V. Drack --t| Chapter 15: Corneal dystrophies /r| Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar --t| Chapter 16: The genetics of keratoconus /r| Marzena Gajecka --t| Chapter 17: Molecular genetics of primary congenital glaucoma /r| Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi --t| Chapter 18: Molecular genetics of primary open-angle glaucoma /r| Anne H. Child, Filipe M. Pereira da Silva, Jose Aragon-Martin, Roshanak Sharafieh, and Mansoor Sarfarazi --t| Chapter 19: Genetics of congenital cataracts /r| Madhavan Jagadeesan and Elise Héon --;

505 00 g| Section Three: Retina and optic nerve --t| Chapter 20: Retinal function testing and genetic disease /r| Luis A.R. Gabriel, Neal S. Peachey, and Janet S. Sunness --t| Chapter 21: Genetic pathways in retinal degenerations and targets for therapy /r| Loh-Shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, and Stephen H. Tsang --t| Chapter 22: Proteomic biomarkers for age-related macular degeneration /r| John W. Crabb --t| Chapter 23: Retinitis pigmentosa /r| Henry A. Ferreyra and John R. Heckenlively --t| Chapter 24: Juvenile retinoschisis /r| Paul A. Sieving and Lucia Ziccardi --t| Chapter 25: Achromatopsia-rod monochromacy /r| Susanne Kohl --t| Chapter 26: Cone dysfunction syndromes, cone dystrophies, and cone-rod degenerations /r| Elias I. Traboulsi --t| Chapter 27: North Carolina macular dystrophy/MCRD1 /r| Kean T. Oh and Kent Small --t| Chapter 28: Bestrophinopathies /r| Bart P. Leroy --t| Chapter 29: NR2E3-linked retinal degenerations: enhanced S-cone sensitivity syndrome, Goldmann-Favre syndrome, clumped pigmentary retinal degeneration, and retinitis pigmentosa /r| Daniel F. Schorderet, Neena Haider, and Pascal Escher --t| Chapter 30: Disorders of color vision /r| Samir S. Deeb and Arno G. Motulsky --t| Chapter 31: Stargardt disease /r| Aimee V. Chappelow and Elias I. Traboulsi --t| Chapter 32: Congenital stationary night blindness /r| Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz --t| Chapter 33: Choroideremia /r| Ian M. MacDonald and Miguel C. Seabra --t| Chapter 34: Leber congenital amaurosis: clinical, genetic, and therapeutic perspectives /r| Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander --t| Chapter 35: Familial exudative vitreoretinopathy, Norrie disease, and other developmental retinal vascular disorders /r| Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi --t| Chapter 36: Hereditary vitreoretinopathies /r| Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi --t| Chapter 37: Genetics of age-related maculopathy /r| Oluwatoyin Fafowora and Michael B. Gorin --t| Chapter 38: Pattern dystrophies of the RPE /r| Kean T. Oh --t| Chapter 39: Hereditary optic neuropathies /r| David A. Mackey --t| Chapter 40: Pigmentary retinopathy in systemic inherited disease /r| Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi --;

505 00 g| Section Four: Eye movement disorders --t| Chapter 41: The genetics of nystagmus and associated inherited diseases /r| Shery Thomas and Irene Gottlob --t| Chapter 42: The genetics of strabismus and associated disorders /r| Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle --;

505 00 g| Section Five: Systemic disease and the eye --t| Chapter 43: Ectopia lentis and associated systemic disease /r| Elias I. Traboulsi and Suneel S. Apte --t| Chapter 44: Peroxisomal disorders /r| Mark E. Pennesi and Richard G. Weleber --t| Chapter 45: Albinism /r| Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi --t| Chapter 46: The phakomatoses /r| Michelle M. Ariss, Nicola K. Ragge, Manikum Moodley, and Elias I. Traboulsi --;

505 00 g| Section Six: Cancer genetics and the eye --t| Chapter 47: Systemic associations of eyelid tumors /r| Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh --t| Chapter 48: Genetic aspects of uveal melanoma /r| Werner Wackernagel and Arun D. Singh --t| Chapter 49: Genetics of retinoblastoma /r| Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh --;

506 a| Available only to authorized users.;

538 a| Mode of access: World Wide Web;

650 0 a| Eyex| Diseasesx| Genetic aspects.=| ^A883025;

650 0 a| Eyex| Abnormalities.=| ^A1095685;

650 12 a| Eye Diseases, Hereditary.=| ^A962428;

655 0 a| Electronic books.=| ^A491897;

700 1 a| Traboulsi, Elias I.=| ^A945258;

830 0 a| Oxford monographs on medical genetics ;v| no. 61.=| ^A873;

856 40 z| Full text available from Ebook Central - Academic Completeu| https://ebookcentral.proquest.com/lib/eastcarolina/detail.action?docID=796043;

947 a| (OCoLC)ocn707710844;

949 a| CLICK ON WEB ADDRESSw| ASISh| JOYNER188;

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949 a| CLICK ON WEB ADDRESSw| ASISh| JMUSIC60;

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999 a| CLICK ON WEB ADDRESSw| ASISc| 1i| 5219454-3001l| MNETm| JMUSICr| Ys| Yt| MNESSBKu| 12/14/2019x| EBOOKz| JERESOURCE;

Genetic diseases of the eye / edited by Elias I. Traboulsi.

Other author	Traboulsi, Elias I.
Format	Electronic
Edition	2nd ed.
Publication Info	New York : Oxford University Press,
Description	xv, 923 p. : ill. (some col.) ; 28 cm.
Supplemental Content	Full text available from Ebook Central - Academic Complete
Subjects	Eye--Diseases. --Genetic aspects. Eye--Abnormalities. Eye Diseases, Hereditary.

Series	Oxford monographs on medical genetics ; 61 Oxford monographs on medical genetics ; no. 61. ^A873
Contents	Section One: Malformations -- 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 / 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 / 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 --
Contents	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 / 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 --
Contents	Section Three: Retina and optic nerve -- Chapter 20: Retinal function testing and genetic disease / Luis A.R. Gabriel, Neal S. Peachey, and Janet S. Sunness -- 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 / 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 / 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 / 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 / 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 --
Contents	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 --
Contents	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 / Michelle M. Ariss, Nicola K. Ragge, Manikum Moodley, and Elias I. Traboulsi --
Contents	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 --
Contents	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.
Bibliography note	Includes bibliographical references and index.
Access restriction	Available only to authorized users.
Technical details	Mode of access: World Wide Web
Genre/form	Electronic books.
LCCN	2011010629
ISBN	9780195326147 (alk. paper)
ISBN	0195326148 (alk. paper)

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