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2008, ISBN 026203381X, xii, 754 p., [48] p. of plates
Book
Ophthalmic epidemiology, ISSN 0928-6586, 2/2013, Volume 20, Issue 1, pp. 13 - 25
Inherited retinal dystrophies | macular dystrophy | pigmentary retinopathy | inherited optic neuropathies | molecular diagnosis | Molecular diagnosis | Pigmentary retinopathy | Inherited optic neuropathies | Macular dystrophy | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Middle Aged | Optic Nerve Diseases - diagnosis | Child, Preschool | Eye Diseases, Hereditary - diagnosis | Infant | Male | Young Adult | Molecular Diagnostic Techniques | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Polymerase Chain Reaction | Aged, 80 and over | Adult | Female | Eye Proteins - genetics | Child | Peripherins | France - epidemiology | Extracellular Matrix Proteins - genetics | Myosins - genetics | Nerve Tissue Proteins - genetics | Optic Nerve Diseases - genetics | Eye Diseases, Hereditary - genetics | Membrane Glycoproteins - genetics | Retinal Dystrophies - diagnosis | Retinal Dystrophies - epidemiology | Myosin VIIa | Adolescent | Aged | Mutation | Eye Diseases, Hereditary - epidemiology | Optic Nerve Diseases - epidemiology | Retinal Dystrophies - genetics | Index Medicus | Membrane Glycoproteins/genetics | Retinal Dystrophies/genetics | France/epidemiology | Optic Nerve Diseases/genetics | Extracellular Matrix Proteins/genetics | Eye Proteins/genetics | Life Sciences | Intermediate Filament Proteins/genetics | Optic Nerve Diseases/diagnosis | Optic Nerve Diseases/epidemiology | Myosins/genetics | Retinal Dystrophies/diagnosis | Eye Diseases, Hereditary/genetics | Nerve Tissue Proteins/genetics | ATP-Binding Cassette Transporters/genetics | Retinal Dystrophies/epidemiology | Eye Diseases, Hereditary/epidemiology | Eye Diseases, Hereditary/diagnosis
Journal Article
Gastroenterology (New York, N.Y. 1943), ISSN 0016-5085, 2012, Volume 143, Issue 5, pp. 1244 - 1252.e12
Journal Article
by Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Willoughby, Colin E and Yazar, Seyhan and Nag, Abhishek and Polašek, Ozren and Tham, Yih Chung and Kearns, Lisa S and Shi, Yuan and Taylor, Kent D and Wang, Jie Jin and Attia, John and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Zeller, Tanja and Mills, Richard A and Staffieri, Sana E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Budenz, Donald L and Christen, William G and Fingert, John and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Singh, Kuldev and Vollrath, Douglas and Wollstein, Gadi and Donnelly, Peter and Barroso, Ines and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Auey and Jankowski, Janusz and Mathew, Christopher G and Palmer, Colin N. A and Sawcer, Stephen J and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, C. line and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and Pearson, Richard and Strange, Amy and Su, Zhan and Vukcevic, Damjan and Langford, Cordelia and Hunt, Sarah E and Edkins, Sarah and Gwilliam, Rhian and Blackburn, Hannah and Bumpstead, Suzannah J and Hammond, Naomi and Jayakumar, Alagurevathi and McCann, Owen T and Liddle, Jennifer and Potter, Simon C and Ravinarajah, Radhi and Ricketts, Michelle and Waller, Matthew and Widaa, Sara and Whittaker, Pamela and Uitterlinden, Ané G and Vithana, Eranga N and Hewitt, Alex W and Khor, Chiea Chuen and Klaver, Caroline C. W and Aung, Tin and Pfeiffer, Norbert and MacKey, David A and Cheng, Ching-Yu and Rabinowitz, Yaron S and Wiggs, Janey L and Burdon, Kathryn P and MacGregor, Stuart and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 1864 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article