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1مؤتمر
المصدر: 2011 Prognostics and System Health Managment Confernece Prognostics and System Health Management Conference (PHM-Shenzhen), 2011. :1-4 May, 2011
Relation: 2011 Prognostics and System Health Management Conference (PHM-2011 Shenzhen)
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المؤلفون: Etienne M. Schönbach, Rupert W. Strauss, Mohamed A. Ibrahim, Jessica L. Janes, David G. Birch, Artur V. Cideciyan, Janet S. Sunness, Beatriz Muñoz, Michael S. Ip, SriniVas R. Sadda, Hendrik P.N. Scholl, Yulia Wolfson, Millena Bittencourt, Syed Mahmood Shah, Mohamed Ahmed, Etienne Schönbach, Kaoru Fujinami, Elias Traboulsi, Justis Ehlers, Meghan Marino, Susan Crowe, Rachael Briggs, Angela Borer, Anne Pinter, Tami Fecko, Nikki Burgnoni, Carol Applegate, Leslie Russell, Michel Michaelides, Simona Degli Esposti, Anthony Moore, Andrew Webster, Sophie Connor, Jade Barnfield, Zaid Salchi, Clara Alfageme, Victoria McCudden, Maria Pefkianaki, Jonathan Aboshiha, Gerald Liew, Graham Holder, Anthony Robson, Alexa King, Daniela Ivanova Cajas Narvaez, Katy Barnard, Catherine Grigg, Hannah Dunbar, Yetunde Obadeyi, Karine Girard-Claudon, Hilary Swann, Avani Rughani, Charles Amoah, Dominic Carrington, Kanom Bibi, Emerson Ting, Mohamed Nafaz Illiyas, Hamida Begum, Andrew Carter, Anne Georgiou, Selma Lewism, Saddaf Shaheen, Harpreet Shinmar, Linda Burton, Paul Bernstein, Kimberley Wegner, Briana Lauren Sawyer, Bonnie Carlstrom, Kellian Farnsworth, Cyrie Fry, Melissa Chandler, Glen Jenkins, Donnel Creel, David Birch, Yi-Zhong Wang, Luis Rodriguez, Kirsten Locke, Martin Klein, Paulina Mejia, Samuel G. Jacobson, Sharon B. Schwartz, Rodrigo Matsui, Michaela Gruzensky, Jason Charng, Alejandro J. Roman, Eberhart Zrenner, Fadi Nasser, Gesa Astrid Hahn, Barbara Wilhelm, Tobias Peters, Benjamin Beier, Tilman Koenig, Susanne Kramer, José-Alain Sahel, Saddek Mohand-Said, Isabelle Audo, Caroline Laurent-Coriat, Ieva Sliesoraityte, Christina Zeitz, Fiona Boyard, Minh Ha Tran, Mathias Chapon, Céline Chaumette, Juliette Amaudruz, Victoria Ganem, Serge Sancho, Aurore Girmens, Robert Wojciechowski, Shazia Khan, David G. Emmert, Dennis Cain, Mark Herring, Jennifer Bassinger, Lisa Liberto, Sheila West, Ann-Margret Ervin, Beatriz Munoz, Xiangrong Kong, Kurt Dreger, Jennifer Jones, Srinivas Sadda, Anamika Jha, Alex Ho, Brendan Kramer, Ngoc Lam, Rita Tawdros, Yong Dong Zhou, Johana Carmona, Akihito Uji, Amirhossein Hariri, Amy Lock, Anthony Elshafei, Anushika Ganegoda, Christine Petrossian, Dennis Jenkins, Edward Strnad, Elmira Baghdasaryan, Eric Ito, Feliz Samson, Gloria Blanquel, Handan Akil, Jhanisus Melendez, Jianqin Lei, Jianyan Huang, Jonathan Chau, Khalil G. Falavarjani, Kristina Espino, Manfred Li, Maria Mendoza, Muneeswar Gupta Nittala, Netali Roded, Nizar Saleh, Ping Huang, Sean Pitetta, Siva Balasubramanian, Sophie Leahy, Sowmya J. Srinivas, Swetha B. Velaga, Teresa Margaryan, Tudor Tepelus, Tyler Brown, Wenying Fan, Yamileth Murillo, Yue Shi, Katherine Aguilar, Cynthia Chan, Lisa Santos, Brian Seo, Christopher Sison, Silvia Perez, Stephanie Chao, Kelly Miyasato, Julia Higgins, Zoila Luna, Anita Menchaca, Norma Gonzalez, Vicky Robledo, Karen Carig, Kirstie Baker, David Ellenbogen, Daniel Bluemel, Theo Sanford, Daisy Linares, Mei Tran, Lorane Nava, Michelle Oberoi, Mark Romero, Vivian Chiguil, Grantley Bynum-Bain, Monica Kim, Carolina Mendiguren, Xiwen Huang, Monika Smith, Natalie Sarreal
المصدر: American Journal of Ophthalmology. 216:219-225
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Visual acuity, Adolescent, genetic structures, Visual Acuity, ABCA4, Sensitivity and Specificity, Retina, Young Adult, Ophthalmology, Humans, Stargardt Disease, Medicine, Prospective Studies, Fluorescein Angiography, Scotoma, Prospective cohort study, medicine.diagnostic_test, biology, business.industry, Blind spot, Middle Aged, Fluorescein angiography, medicine.disease, eye diseases, Clinical trial, Stargardt disease, biology.protein, Visual Field Tests, ATP-Binding Cassette Transporters, Female, Visual Fields, medicine.symptom, business, Microperimetry, Tomography, Optical Coherence
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المؤلفون: Marius Gudauskis, Povilas Daniušis, Andrius Budrionis, Ieva Sliesoraityte, Arunas Zvironas, Darius Plikynas
المصدر: IEEE Instrumentation & Measurement Magazine. 23:22-32
مصطلحات موضوعية: business.industry, Orientation (computer vision), Computer science, media_common.quotation_subject, 020208 electrical & electronic engineering, 02 engineering and technology, Field (computer science), Systematic review, Software, Human–computer interaction, Perception, 0202 electrical engineering, electronic engineering, information engineering, Global Positioning System, Instrumentation (computer programming), Electrical and Electronic Engineering, business, Instrumentation, media_common, Haptic technology
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المؤلفون: Susanne Kohl, Ieva Sliesoraityte, Laura Kühlewein, Mary J. van Schooneveld, Bernd Wissinger, Eberhart Zrenner, Alexandra Sauer, Günther Rudolph, Pablo Llavona, Melanie Kempf, Florian A. Dehmelt, Peggy Reuter, Aristides B. Arrenberg, Nicole Weisschuh
المصدر: Human Molecular Genetics
مصطلحات موضوعية: 0301 basic medicine, Male, AcademicSubjects/SCI01140, genetic structures, Color vision, Locus (genetics), Color Vision Defects, 03 medical and health sciences, 0302 clinical medicine, Cone dystrophy, Gene duplication, Gene cluster, Chromosome Duplication, Genetics, medicine, Animals, Humans, Cone Dystrophy, Molecular Biology, Zebrafish, Genetics (clinical), Genes, Dominant, Family Health, Homeodomain Proteins, Comparative Genomic Hybridization, biology, General Medicine, Sequence Analysis, DNA, medicine.disease, biology.organism_classification, eye diseases, Pedigree, 030104 developmental biology, Gene Expression Regulation, Multigene Family, 030221 ophthalmology & optometry, Female, General Article, Retinal Dystrophies, Chromosomes, Human, Pair 16, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2256018fbbd522bbeac2b99dd0facd4e
https://pubmed.ncbi.nlm.nih.gov/33891002 -
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المؤلفون: Etienne M. Schönbach, Rupert W. Strauss, Xiangrong Kong, Beatriz Muñoz, Mohamed A. Ibrahim, Janet S. Sunness, David G. Birch, Gesa-Astrid Hahn, Fadi Nasser, Eberhart Zrenner, SriniVas R. Sadda, Sheila K. West, Hendrik P.N. Scholl, Yulia Wolfson, Millena Bittencourt, Syed Mahmood Shah, Mohamed Ahmed, Etienne Schönbach, Kaoru Fujinami, Elias Traboulsi, Justis Ehlers, Meghan Marino, Susan Crowe, Rachael Briggs, Angela Borer, Anne Pinter, Tami Fecko, Nikki Burgnoni, Carol Applegate, Leslie Russell, Michel Michaelides, Simona Degli Esposti, Anthony Moore, Andrew Webster, Sophie Connor, Jade Barnfield, Zaid Salchi, Clara Alfageme, Victoria McCudden, Maria Pefkianaki, Jonathan Aboshiha, Gerald Liew, Graham Holder, Anthony Robson, Alexa King, Daniela Ivanova Cajas Narvaez, Katy Barnard, Catherine Grigg, Hannah Dunbar, Yetunde Obadeyi, Karine Girard-Claudon, Hilary Swann, Avani Rughani, Charles Amoah, Dominic Carrington, Kanom Bibi, Emerson Ting Co, Mohamed Nafaz Illiyas, Hamida Begum, Andrew Carter, Anne Georgiou, Selma Lewism, Saddaf Shaheen, Harpreet Shinmar, Linda Burton, Paul Bernstein, Kimberley Wegner, Briana Lauren Sawyer, Bonnie Carlstrom, Kellian Farnsworth, Cyrie Fry, Melissa Chandler, Glen Jenkins, Donnel Creel, David Birch, Yi-Zhong Wang, Luis Rodriguez, Kirsten Locke, Martin Klein, Paulina Mejia, Artur V. Cideciyan, Samuel G. Jacobson, Sharon B. Schwartz, Rodrigo Matsui, Michaela Gruzensky, Jason Charng, Alejandro J. Roman, Gesa Astrid Hahn, Barbara Wilhelm, Tobias Peters, Benjamin Beier, Tilman Koenig, Susanne Kramer, José-Alain Sahel, Saddek Mohand-Said, Isabelle Audo, Caroline Laurent-Coriat, Ieva Sliesoraityte, Christina Zeitz, Fiona Boyard, Minh Ha Tran, Mathias Chapon, Céline Chaumette, Juliette Amaudruz, Victoria Ganem, Serge Sancho, Aurore Girmens, Robert Wojciechowski, Shazia Khan, David G. Emmert, Dennis Cain, Mark Herring, Jennifer Bassinger, Lisa Liberto, Sheila West, Ann-Margret Ervin, Beatriz Munoz, Kurt Dreger, Jennifer Jones, Srinivas Sadda, Michael S. Ip, Anamika Jha, Alex Ho, Brendan Kramer, Ngoc Lam, Rita Tawdros, Yong Dong Zhou, Johana Carmona, Akihito Uji, Amirhossein Hariri, Amy Lock, Anthony Elshafei, Anushika Ganegoda, Christine Petrossian, Dennis Jenkins, Edward Strnad, Elmira Baghdasaryan, Eric Ito, Feliz Samson, Gloria Blanquel, Handan Akil, Jhanisus Melendez, Jianqin Lei, Jianyan Huang, Jonathan Chau, Khalil G. Falavarjani, Kristina Espino, Manfred Li, Maria Mendoza, Muneeswar Gupta Nittala, Netali Roded, Nizar Saleh, Ping Huang, Sean Pitetta, Siva Balasubramanian, Sophie Leahy, Sowmya J. Srinivas, Swetha B. Velaga, Teresa Margaryan, Tudor Tepelus, Tyler Brown, Wenying Fan, Yamileth Murillo, Yue Shi, Katherine Aguilar, Cynthia Chan, Lisa Santos, Brian Seo, Christopher Sison, Silvia Perez, Stephanie Chao, Kelly Miyasato, Julia Higgins, Zoila Luna, Anita Menchaca, Norma Gonzalez, Vicky Robledo, Karen Carig, Kirstie Baker, David Ellenbogen, Daniel Bluemel, Theo Sanford, Daisy Linares, Mei Tran, Lorane Nava, Michelle Oberoi, Mark Romero, Vivian Chiguil, Grantley Bynum-Bain, Monica Kim, Carolina Mendiguren, Xiwen Huang, Monika Smith, Natalie Sarreal
المصدر: American Journal of Ophthalmology. 193:54-61
مصطلحات موضوعية: Adult, Male, Fixation stability, medicine.medical_specialty, Adolescent, Visual Acuity, Fixation, Ocular, Retina, Article, Standard deviation, Macular Degeneration, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, medicine, Humans, Stargardt Disease, Prospective Studies, Young adult, Child, Prospective cohort study, Aged, business.industry, Middle Aged, medicine.disease, Confidence interval, Stargardt disease, Fixation (visual), 030221 ophthalmology & optometry, Visual Field Tests, Female, Visual Fields, business, 030217 neurology & neurosurgery, Natural history study, Follow-Up Studies
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المؤلفون: Ieva Sliesoraityte, Susanne Kohl, Stephanie Hipp, Francesca Simonelli, Ditta Zobor, Saddek Mohand-Said, José-Alain Sahel, Isabelle Audo, Anne Kurtenbach, Christoph Kernstock, Marko Hawlina, Crystel Bonnet, Francesco Testa, Ana Fakin, Katarina Stingl, Christine Petit, Eberhart Zrenner, Gesa Hahn
المساهمون: Institute for Ophthalmic Research [Tübingen, Germany] (Centre for Ophthalmology), University of Tübingen, Center for Ophthalmology, Institute for Ophthalmic research Tuebingen, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ecole Doctorale Complexité du Vivant (ED515), Sorbonne Université (SU), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Institut Arthur Vernes, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Università degli studi della Campania 'Luigi Vanvitelli', Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Kurtenbach, Anne, Hahn, Gesa, Kernstock, Christoph, Hipp, Stephanie, Zobor, Ditta, Stingl, Katarina, Kohl, Susanne, Bonnet, Crystel, Mohand-Saïd, Saddek, Sliesoraityte, Ieva, Sahel, José-Alain, Audo, Isabelle, Fakin, Ana, Hawlina, Marko, Testa, Francesco, Simonelli, Francesca, Petit, Christine, Zrenner, Eberhart
المصدر: Current Eye Research
Current Eye Research, Taylor & Francis, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩
Current Eye Research, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩مصطلحات موضوعية: 0301 basic medicine, Male, Visual acuity, genetic structures, Usher syndrome, [SDV]Life Sciences [q-bio], MESH: Color Perception Tests, Visual Acuity, Color Vision Defects, 030105 genetics & heredity, MESH: Visual Acuity, 0302 clinical medicine, Confusion, MESH: Genetic Association Studies, MESH: Aged, MESH: Middle Aged, Color Perception Tests, medicine.diagnostic_test, Middle Aged, Sensory Systems, MESH: Young Adult, Female, medicine.symptom, Usher Syndromes, Adult, medicine.medical_specialty, Adolescent, Color vision, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, Ophthalmology, medicine, otorhinolaryngologic diseases, Humans, Color perception test, retinal dystrophy, MESH: Usher Syndromes, Genetic Association Studies, Hue, Aged, MESH: Adolescent, MESH: Color Vision Defects, MESH: Humans, business.industry, MESH: Adult, medicine.disease, eye diseases, MESH: Male, color vision, Color loss, 030221 ophthalmology & optometry, business, MESH: Female
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المؤلفون: Christine Petit, Eberhart Zrenner, Shzeena Dad, Martina Jarc-Vidmar, Maria Antonia Claveria, Alberto Auricchio, Ana Fakin, Marko Hawlina, Gaelle M. Lefèvre, Susanne Kohl, Anne Kurtenbach, Aziz El-Amraoui, Loreto Martorell Sampol, Jesus Rodriguez Jorge, Ditta Zobor, Saddek Mohand-Said, Crystel Bonnet, Ieva Sliesoraityte, Charles Marcaillou, Francesco Testa, Saba Battelino, Jaume Mora, Mélanie Letexier, José-Alain Sahel, Francesca Simonelli, Lisbeth Birk Møller, Sandra Chantot-Bastaraud, Jean-Pierre Hardelin, Isabelle Audo, Zied Riahi, Andrej Zupan, Luce Smagghe, Amrit Singh-Estivalet, Damjan Glavač, Souad Gherbi, Sandro Banfi, Sandrine Marlin
المساهمون: Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), IntegraGen SA, Génétique et Physiologie de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), University of Tuebingen, Centre de référence des Surdités Génétiques [CHU Necker, Paris], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Naples Federico II = Università degli studi di Napoli Federico II, Telethon Institute of Genetics and Medicine = Istituto Telethon di Genetica e Medicina (TIGEM), Seconda Università degli Studi di Napoli = Second University of Naples, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), University of Ljubljana, Hospital Sant Joan de Déu [Barcelona], Kennedy Center, Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by the European Union Seventh Framework Programme under the grant agreement HEALTH-F2-2010-242013 (TREATRUSH), ANR-15-RHUS-001 (LIGHT4DEAF), LHW-Stiftung, Fondation Raymonde & Guy Strittmatter, FAUN Stiftung, Conny Maeva Charitable Foundation, Fondation Orange, Fondation BNP Paribas, LABEX Lifesenses [ANR-10-LABX-65], 'the Foundation Fighting Blindness Paris Center Grant', and the Slovenian research agency (ARRS P3-0333)., We are grateful to the patients and their families for their participation in the study. DNA samples included in this study originated from the NeuroSensCol** DNA bank, part of the BioCollections network for research in neuroscience (PI: JA Sahel, co-PI: I Audo, in partnership with the CHNO des Quinze-Vingts, Inserm and the CNRS), and the Tuebingen RetDis biobank (PI: B Wissinger, co-PI S Kohl)., ANR-15-RHUS-0001,LIGHT4DEAF,ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER(2015), ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010), European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), Bonnet, Crystel, ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER - - LIGHT4DEAF2015 - ANR-15-RHUS-0001 - RHUS - VALID, DES SENS POUR TOUTE LA VIE - - LIFESENSES2010 - ANR-10-LABX-0065 - LABX - VALID, Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher) - TREATRUSH - - EC:FP7:HEALTH2010-02-01 - 2014-01-31 - 242013 - VALID, Riahi, Zied, Chantot Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charle, Lefèvre, Gaëlle M, Hardelin, Jean Pierre, El Amraoui, Aziz, Singh Estivalet, Amrit, Mohand Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesu, Hawlina, Marko, Auricchio, Alberto, Sahel, José Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris]-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de référence des Surdités Génétiques, University of Naples Federico II, Seconda Università degli studi di Napoli, Chaire Génétique et physiologie cellulaire
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: 0301 basic medicine, MESH: Extracellular Matrix Proteins, MESH: Sequence Analysis, DNA, Usher syndrome, [SDV]Life Sciences [q-bio], Bioinformatics, 0302 clinical medicine, Exome, Exome sequencing, Genetics (clinical), Genetics, Comparative Genomic Hybridization, Extracellular Matrix Proteins, MESH: Exome, medicine.diagnostic_test, MESH: Genetic Testing, 3. Good health, Europe, [SDV] Life Sciences [q-bio], Medical genetics, MESH: Genes, Modifier, Usher Syndromes, medicine.medical_specialty, MESH: Mutation, Genetic counseling, Biology, Sensitivity and Specificity, Article, 03 medical and health sciences, Molecular genetics, medicine, otorhinolaryngologic diseases, Humans, Genetic Testing, MESH: Usher Syndromes, Alleles, Genetic testing, Genes, Modifier, MESH: Humans, Genetic heterogeneity, MESH: Alleles, Sequence Analysis, DNA, medicine.disease, MESH: Sensitivity and Specificity, MESH: Comparative Genomic Hybridization, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, MESH: Europe
وصف الملف: application/pdf
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المؤلفون: Xiangrong Kong, Rupert W. Strauss, Michel Michaelides, Artur V. Cideciyan, José-Alain Sahel, Beatriz Muñoz, Sheila West, Hendrik P.N. Scholl, Yulia Wolfson, Millena Bittencourt, Syed Mahmood Shah, Mohammed Ahmed, Etienne Schonbach, Kaoru Fujinami, Elias Traboulsi, Justis Ehlers, Meghan Marino, Susan Crowe, Rachael Briggs, Angela Borer, Anne Pinter, Tami Fecko, Nikki Brugnoni, Janet S. Sunness, Carol Applegate, Leslie Russell, Anthony Moore, Andrew Webster, Sophie Connor, Victoria McCudden, Maria Pefkianaki, Jonathan Aboshiha, Gerald Liew, Graham Holder, Anthony Robson, Alexa King, Daniela Ivanova Cajas Narvaez, Katy Barnard, Catherine Grigg, Hannah Dunbar, Yetunde Obadeyi, Karine Girard-Claudon, Hilary Swann, Avani Rughani, Charles Amoah, Dominic Carrington, Kanom Bibi, Emerson Ting Co, Andrew Carter, Anne Georgiou, Selma Lewis, Saddaf Shaheen, Harpreet Shinmar, Linda Burton, Paul Bernstein, Kimberley Wegner, Briana Lauren Sawyer, Bonnie Carlstrom, Kellian Farnsworth, Cyrie Fry, Melissa Chandler, Glen Jenkins, Donnel Creel, David Birch, Yi-Zhong Wang, Luis Rodriguez, Kirsten Locke, Martin Klein, Paulina Mejia, Samuel G. Jacobson, Sharon B. Schwartz, Rodrigo Matsui, Michaela Gruzensky, Alejandro J. Roman, Eberhart Zrenner, Fadi Nasser, Gesa Astrid Hahn, Barbara Wilhelm, Tobias Peters, Benjamin Beier, Tilman Koenig, Susanne Kramer, Saddek Mohand-Said, Isabelle Audo, Caroline Laurent-Coriat, Ieva Sliesoraityte, Christina Zeitz, Fiona Boyard, Minh Ha Tran, Mathias Chapon, Céline Chaumette, Juliette Amaudruz, Victoria Ganem, Serge Sancho, Aurore Girmens, Robert Wojciechowski, Shazia Khan, David G. Emmert, Dennis Cain, Mark Herring, Jennifer Bassinger, Lisa Liberto, Ann-Margret Ervin, Beatriz Munoz, Kurt Dreger, Jennifer Jones, Srinivas Sadda, Anamika Jha, Alex Ho, Brendan Kramer, Amirhossein Hariri, Gloria Rebecca Blanquel, Ngoc Lam, Sean Pitetta, Yue Shi, Rita Tawdros, Christine Petrossian, Dennis Jenkins, Muneeswar Gupta, Yong Dong Zhou, Katherine Aguilar, Cynthia Chan, Lisa Santos, Brian Seo, Christopher Sison, Silvia Perez, Stephanie Chao, Kelly Miyasato, Julia Higgins, Zoila Luna, Anita Menchaca, Norma Gonzalez, Vicky Robledo, Karen Carig, Kirstie Baker, David Ellenbogen, James Russell, Daniel Bluemel, Alex Moreno, Royal Pham, Theo Sanford, Daisy Linares, Mei Tran
المصدر: Ophthalmology. 123(9)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Visual acuity, Adolescent, Cross-sectional study, Vision Disorders, Visual Acuity, 03 medical and health sciences, Macular Degeneration, Young Adult, 0302 clinical medicine, Risk Factors, medicine, Humans, Stargardt Disease, Age of Onset, Prospective cohort study, Child, Generalized estimating equation, Aged, Retrospective Studies, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, United States, Stargardt disease, Europe, Ophthalmology, 030104 developmental biology, Cross-Sectional Studies, 030221 ophthalmology & optometry, Physical therapy, Disease Progression, Linear Models, Age of onset, medicine.symptom, business, Cohort study
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المؤلفون: Tunde Peto, Ieva Sliesoraityte, Saddek Mohand-Said, José-Alain Sahel
المساهمون: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10 (1), pp.157. ⟨10.1186/s13023-015-0372-0⟩
Orphanet Journal of Rare Diseases, 2015, 10 (1), pp.157. ⟨10.1186/s13023-015-0372-0⟩
Sliesoraityte, I, Peto, T, Mohand-Said, S & Sahel, J A 2015, ' Novel grading system for quantification of cystic macular lesions in Usher syndrome ', Orphanet journal of rare diseases, vol. 10, 157 . https://doi.org/10.1186/s13023-015-0372-0مصطلحات موضوعية: Male, Usher syndrome, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, hemic and lymphatic diseases, Genetics(clinical), Pharmacology (medical), Macula Lutea, Prospective Studies, Prospective cohort study, Genetics (clinical), Medicine(all), 0303 health sciences, medicine.diagnostic_test, Cysts, Research Support, Non-U.S. Gov't, General Medicine, Middle Aged, Clinical therapy, Macular Lesion, medicine.anatomical_structure, Phenotype, Grading system, Female, Usher Syndromes, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Genotype, Observational Study, 03 medical and health sciences, Optical coherence tomography, Ophthalmology, Journal Article, medicine, Humans, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Outer nuclear layer, neoplasms, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Research, Retinal, medicine.disease, Cross-Sectional Studies, chemistry, 030221 ophthalmology & optometry, sense organs, Cystic macular lesions, Subretinal fluid, business
وصف الملف: application/pdf
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المؤلفون: H. Enderle, K. U. Bartz-Schmidt, Ieva Sliesoraityte, Eberhart Zrenner, Andreas Schatz, Florian Gekeler, Gabriel Willmann, Andre Messias
المصدر: Journal of Neuroscience Methods. 195:128-134
مصطلحات موضوعية: Time Factors, Materials science, genetic structures, Oscillatory potentials, Correlation coefficient, Contact Lenses, Statistics as Topic, Retina, Optics, Cornea, Electroretinography, medicine, Animals, Scotopic vision, Adaptation, Ocular, business.industry, General Neuroscience, Reproducibility of Results, Repeatability, Rats, Intensity (physics), Contact lens, medicine.anatomical_structure, Electrode, business, Microelectrodes, Biomedical engineering