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1. Ophthalmic genetics
and International Society of Paediatric Ophthalmology and International Society for Genetic Eye DiseaseOphthalmic Genetics Study Club
Ophthalmic genetics, ISSN 1381-6810, 1994
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2. Eye, retina, and visual system of the mouse
by Chalupa, Leo M and Williams, Robert W
2008, ISBN 026203381X, xii, 754 p., [48] p. of plates
eye | visual pathways | mice | sense organs
Book
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3. Full Text Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
by Bocquet, Beatrice and Lacroux, Annie and Surget, Marie-Odile and Baudoin, Corinne and Marquette, Virginie and Manes, Gael and Hebrard, Maxime and Sénéchal, Audrey and Delettre, Cecile and Roux, Anne-Francoise and Claustres, Mireille and Dhaenens, Claire-Marie and Rozet, Jean-Michel and Perrault, Isabelle and Bonnefont, Jean-Paul and Kaplan, Josseline and Dollfus, Helene and Amati-Bonneau, Patrizia and Bonneau, Dominique and Reynier, Pascal and Audo, Isabelle and Zeitz, Christina and Sahel, José Alain and Paquis-Flucklinger, Veronique and Calvas, Patrick and Arveiler, Benoit and Kohl, Suzanne and Wissinger, Bernd and Blanchet, Catherine and Meunier, Isabelle and Hamel, Christian P
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
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4. Full Text Genome-Wide Association Study Identifies Variants Associated With Progression of Liver Fibrosis From HCV Infection
by Patin, Etienne and Kutalik, Zoltán and Guergnon, Julien and Bibert, Stéphanie and Nalpas, Bertrand and Jouanguy, Emmanuelle and Munteanu, Mona and Bousquet, Laurence and Argiro, Laurent and Halfon, Philippe and Boland, Anne and Müllhaupt, Beat and Semela, David and Dufour, Jean–François and Heim, Markus H and Moradpour, Darius and Cerny, Andreas and Malinverni, Raffaele and Hirsch, Hans and Martinetti, Gladys and Suppiah, Vijayaprakash and Stewart, Graeme and Booth, David R and George, Jacob and Casanova, Jean–Laurent and Bréchot, Christian and Rice, Charles M and Talal, Andrew H and Jacobson, Ira M and Bourlière, Marc and Theodorou, Ioannis and Poynard, Thierry and Negro, Francesco and Pol, Stanislas and Bochud, Pierre–Yves and Abel, Laurent and French ANRS HC EP 26 Genoscan Study Group and Swiss Hepatitis C Cohort Study Group, International Hepatitis C Genetics Consortium and Hepatitis C Cohort Study Grp and Int Hepatitis C Genetics Conso and French Anrs HC EP 26 Genoscan Stud
Gastroenterology (New York, N.Y. 1943), ISSN 0016-5085, 2012, Volume 143, Issue 5, pp. 1244 - 1252.e12
Gastroenterology and Hepatology | Cirrhosis | Genetic Analysis | Liver Disease | Risk Factors | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Humans | Hepatitis C, Chronic - virology | Apoptosis - genetics | Male | Hepatitis C, Chronic - complications | Young Adult | c-Mer Tyrosine Kinase | Adult | Female | Eye Proteins - genetics | Liver Cirrhosis - genetics | Genome-Wide Association Study | Membrane Proteins - genetics | Proportional Hazards Models | Genotype | Logistic Models | Proto-Oncogene Proteins - genetics | Disease Progression | Phenotype | Liver Cirrhosis - virology | Receptor Protein-Tyrosine Kinases - genetics | Polymorphism, Single Nucleotide | Ubiquitin-Protein Ligases - genetics | Hepacivirus | Lipase - genetics | Antiviral agents | Medical research | Medical colleges | Liver | Genomics | Immunodeficiency | Development and progression | Genomes | HIV (Viruses) | Risk factors | Analysis | Fibrosis | Medical genetics | Medicine, Experimental | Hepatitis C virus | Hepatitis C | Health aspects | Liver diseases | Genetic research | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Genetics | Hépatology and Gastroenterology | Infectious diseases | Human genetics | risk factors | genetic analysis | liver disease | cirrhosis
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5. Full Text Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms
by Zeitz, Christina and Robson, Anthony G and Audo, Isabelle
Progress in retinal and eye research, ISSN 1350-9462, 03/2015, Volume 45, pp. 58 - 110
Animal models | Prevalence | Fundus albipunctatus | Oguchi disease | Molecular genetics | Diagnostics | Pathophysiology | Protein function | Schubert-Bornschein | Congenital stationary night blindness (CSNB) | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Eye Diseases, Hereditary - diagnosis | Myopia - diagnosis | Genetic Diseases, X-Linked - genetics | Myopia - therapy | Eye Proteins - genetics | Night Blindness - genetics | Night Blindness - therapy | Genetic Diseases, X-Linked - physiopathology | Disease Models, Animal | Electroretinography | Eye Diseases, Hereditary - physiopathology | Genetic Association Studies | Night Blindness - diagnosis | Genotype | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Myopia - genetics | Phenotype | Animals | Myopia - physiopathology | Night Blindness - physiopathology | Eye Diseases, Hereditary - therapy | Mutation | Genetic Diseases, X-Linked - therapy | Genetic Therapy - methods | Proteins | Genetic research | Genetic aspects | Genetic disorders | Analysis | Prevalence studies (Epidemiology) | Index Medicus
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6. Full Text Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
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
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