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32 results for Vincent,+Ajoy

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Select record 21
ArticlesPeer ReviewedFull Text
Achromatopsia mutations target sequential steps of ATF6 activation
Author / Creator:Chiang, Wei-Chieh ; Chan, Priscilla ; Wissinger, Bernd ; Vincent, Ajoy ; Skorczyk-Werner, Anna ; Krawczyński, Maciej R. ; Kaufman, Randal J. ; Tsang, Stephen H. ; Héon, Elise ; Kohl, Susanne ; Lin, Jonathan H.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-01, Vol.114 (2), p.400-405
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Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage
Author / Creator:Orsini, Alessandro ; Ferrari, Daniele ; Riva, Antonella ; Santangelo, Andrea ; Macrì, Angelo ; Freri, Elena ; Canafoglia, Laura ; D’Aniello, Alfredo ; Di Gennaro, Giancarlo ; Massimetti, Gabriele ; Minetti, Carlo ; Zara, Federico ; Michelucci, Roberto ; Tumber, Anupreet ; Vincent, Ajoy ; Minassian, Berge Arakel ; Striano, Pasquale
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2022-07, Vol.269 (7), p.3597-3604
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Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Author / Creator:Stingl, Katarina ; Baumann, Britta ; De Angeli, Pietro ; Vincent, Ajoy ; Héon, Elise ; Cordonnier, Monique ; De Baere, Elfriede ; Raskin, Salmo ; Sato, Mario Teruo ; Shiokawa, Naoye ; Kohl, Susanne ; Wissinger, Bernd
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-06, Vol.23 (12), p.6868
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Retinal Phenotyping of a Murine Model of Lafora Disease
Author / Creator:Vincent, Ajoy ; Ahmed, Kashif ; Hussein, Rowaida ; Berberovic, Zorana ; Tumber, Anupreet ; Zhao, Xiaochu ; Minassian, Berge A.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-03, Vol.14 (4), p.854
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Unique retinal signaling defect in GNB5-related disease
Author / Creator:Shao, Zhuo ; Tumber, Anupreet ; Maynes, Jason ; Tavares, Erika ; Kannu, Peter ; Heon, Elise ; Vincent, Ajoy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2020-06, Vol.140 (3), p.273-277
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Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data
Author / Creator:Liu, Henry ; Ji, Xiang ; Dhaliwal, Sabrina ; Rahman, Syeda Naima ; McFarlane, Michelle ; Tumber, Anupreet ; Locke, Jeff ; Wright, Tom ; Vincent, Ajoy ; Westall, Carol
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2018-12, Vol.137 (3), p.169-181
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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
Author / Creator:Igelman, Austin D ; White, Elizabeth ; Tayyib, Alaa ; Everett, Lesley ; Vincent, Ajoy ; Heon, Elise ; Zeitz, Christina ; Michaelides, Michel ; Mahroo, Omar A ; Katta, Mohamed ; Webster, Andrew ; Preising, Markus ; Lorenz, Birgit ; Khateb, Samer ; Banin, Eyal ; Dror, Sharon ; Luski, Shahar ; Filip Van Den Broeck ; Bart Peter Leroy ; Elfride De Baere ; Walraedt, Sophie ; Stingl, Katarina ; Kuehlewein, Laura ; Kohl, Susanne ; Reith, Milda ; Fulton, Anne ; Raghuram, Aparna ; Meunier, Isabelle ; Dollfus, Hélène ; Aleman, Tomas S ; Bedoukian, Emma C ; O'Neil, Erin C ; Krauss, Emily ; Vincent, Andrea ; Jordan, Charlotte ; Iannaccone, Alessandro ; Sen, Parveen ; Sundaramurthy, Srilekha ; Nagasamy, Soumittra ; Balikova, Irina ; Casteels, Ingele ; Borooah, Shyamanga ; Yassin, Shaden ; Nagiel, Aaron ; Schwartz, Hillary ; Zanlonghi, Xavier ; Gottlob, Irene ; McLean, Rebecca J ; Munier, Francis L ; Stephenson, Andrew ; Sisk, Robert ; Koenekoop, Robert ; Wilson, Lorri B ; Fredrick, Douglas ; Choi, Dongseok ; Yang, Paul ; Pennesi, Mark Edward
Publisher:London: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2025-02, p.bjo-2023-323747
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KCNV2-associated retinopathy: genotype–phenotype correlations – KCNV2 study group report 3
Author / Creator:de Guimaraes, Thales A C ; Georgiou, Michalis ; Robson, Anthony G ; Fujinami, Kaoru ; Vincent, Ajoy ; Nasser, Fadi ; Khateb, Samer ; Mahroo, Omar A ; Pontikos, Nikolas ; Vargas, Maurício E ; Thiadens, Alberta A H J ; Carvalho, Emanuel R de ; Nguyen, Xuan-Than-An ; Arno, Gavin ; Fujinami-Yokokawa, Yu ; Liu, Xiao ; Tsunoda, Kazushige ; Hayashi, Takaaki ; Jiménez-Rolando, Belén ; Martin-Merida, Maria Inmaculada ; Avila-Fernandez, Almudena ; Salas, Ester Carreño ; Garcia-Sandoval, Blanca ; Ayuso, Carmen ; Sharon, Dror ; Kohl, Susanne ; Huckfeldt, Rachel M ; Banin, Eyal ; Pennesi, Mark E ; Khan, Arif O ; Wissinger, Bernd ; Webster, Andrew R ; Heon, Elise ; Boon, Camiel J F ; Zrenner, Eberhard ; Michaelides, Michel
Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
Journal title:British journal of ophthalmology, 2024-08, Vol.108 (8), p.1137-1144
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COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage
Author / Creator:Tabbarah Sami ; Tavares, Erika ; Charish Jason ; Vincent, Ajoy ; Paterson, Andrew ; Di Scipio Matteo ; Yin, Yue ; Mendoza-Londono, Roberto ; Maynes, Jason ; Heon Elise ; Monnier, Philippe P
Publisher:London: Nature Publishing Group
Journal title:Scientific reports, 2020-12, Vol.10 (1)
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The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease
Author / Creator:Selvan, Kavin ; Abalem, Maria F. ; Lacy, Gabrielle D. ; Vincent, Ajoy ; Héon, Elise
Publisher:Cheshire: Springer Healthcare
Journal title:Ophthalmology and therapy, 2022-06, Vol.11 (3), p.1031-1046
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Select record 31
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Rod bipolar cell dysfunction in POLG retinopathy
Author / Creator:Sanderson, Kit Green ; Millar, Eoghan ; Tumber, Anupreet ; Klatt, Regan ; Sondheimer, Neal ; Vincent, Ajoy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2021-02, Vol.142 (1), p.111-118
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Select record 32
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Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series
Author / Creator:Bourgault, Serge ; Baril, Catherine ; Vincent, Ajoy ; Héon, Elise ; Ali, Asim ; MacDonald, Ian ; Lueder, Gregg T ; Colleaux, Kevin M ; Laliberté, Isabelle
Publisher:England: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2015-11, Vol.99 (11), p.1536-1542
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Select record 33
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OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium
Author / Creator:Vincent, Ajoy ; Forster, Nicole ; Maynes, Jason T ; Paton, Tara A ; Billingsley, Gail ; Roslin, Nicole M ; Ali, Arfan ; Sutherland, Joanne ; Wright, Tom ; Westall, Carol A ; Paterson, Andrew D ; Marshall, Christian R ; Héon, Elise
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-12, Vol.51 (12), p.797-805
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Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes
Author / Creator:Shao, Zhuo ; Masuho, Ikuo ; Tumber, Anupreet ; Maynes, Jason T. ; Tavares, Erika ; Ali, Asim ; Hewson, Stacy ; Schulze, Andreas ; Kannu, Peter ; Martemyanov, Kirill A. ; Vincent, Ajoy
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-08, Vol.12 (9), p.1352
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Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome
Author / Creator:Tavares, Erika ; Tang, Chen Yu ; Vig, Anjali ; Li, Shuning ; Billingsley, Gail ; Sung, Wilson ; Vincent, Ajoy ; Thiruvahindrapuram, Bhooma ; Héon, Elise
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-02, Vol.7 (2), p.e00521-n/a
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Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Author / Creator:Schmidt, Ryan E. ; Pohodich, Amy E. ; Birch, David ; Jones, Kaylie ; Lam, Byron L. ; Jung, Emily H. ; Jain, Nieraj ; Georgiou, Michalis ; Mahroo, Omar A. ; Webster, Andrew R. ; Michaelides, Michel ; Bakall, Benjamin ; Iannaccone, Alessandro ; Vincent, Ajoy ; Parameswarappa, Deepika C. ; Heon, Elise ; Scholl, Hendrik P. N. ; Janeschitz-Kriegl, Lucas ; Traboulsi, Elias I. ; Zein, Wadih ; Brooks, Brian P. ; Cukras, Catherine ; Hufnagel, Robert ; Aleman, Tomas S. ; Sylla, Mohamed M. ; Tsang, Stephen H. ; Alabek, Michelle ; Sahel, Jose ; Gorin, Michael B. ; van Genderen, Maria M. ; Stingl, Katarina ; Reith, Milda ; Kohl, Susanne ; Amaral, Rebeca Azevedo Souza ; Sallum, Juliana Maria Ferraz ; Vincent, Andrea L. ; Hull, Sarah ; Duncan, Jacque L. ; Hanson, James V. M. ; Tedeus, Matthias ; Maggi, Jordi ; Graf, Urs ; Koller, Samuel ; Berger, Wolfgang ; Gerth-Kahlert, Christina ; Marra, Molly ; Everett, Lesley A. ; Yang, Paul ; Pennesi, Mark E.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2025-04, Vol.10 (1), p.32-11, Article 32
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Electrophysiological and structural assessment of the central retina following intravitreal injection of bevacizumab for treatment of macular edema
Author / Creator:Shetty, Rohit ; Pai, Sivakami A. ; Vincent, Ajoy ; Shetty, Nitin ; Narayana, Kannan M. ; Sinha, Babi ; Shetty, Bhujang K.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Documenta ophthalmologica, 2008-03, Vol.116 (2), p.129-135
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Prospective, cross-sectional study, demonstrating efficacy of blue fixation target while recording Pattern Visual Evoked Potential in optic neuropathy
Author / Creator:Vincent, Ajoy ; Shetty, Rohit ; Kurian, Mathew ; Shetty, Bhujang K.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Documenta ophthalmologica, 2009-10, Vol.119 (2), p.89-99
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Electrophysiological and structural assessment of the central retina following intravitreal injection of bevacizumab for treatment of macular edema: Retinal Imaging and Electrophysiology in the Assess...
Author / Creator:SHETTY, Rohit ; PAI, Sivakami A ; VINCENT, Ajoy ; SHETTY, Nitin ; NARAYANA, Kannan M ; SINHA, Babi ; SHETTY, Bhujang K
Publisher:Dordrecht: Springer
Journal title:Documenta ophthalmologica, 2008, Vol.116 (2), p.129-135
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Knowing when to refer a young patient to an ocular genetics program: Ophthalmologists need background information when treating young patients
Author / Creator:Vincent, Ajoy
Publisher:Intellisphere, LLC
Journal title:Ophthalmology times, 2022-07, Vol.47 (7), p.17
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Achromatopsia mutations target sequential steps of ATF6 activation

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Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage

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Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

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Retinal Phenotyping of a Murine Model of Lafora Disease

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Unique retinal signaling defect in GNB5-related disease

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Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data

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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

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KCNV2-associated retinopathy: genotype–phenotype correlations – KCNV2 study group report 3

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COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage

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The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease

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Rod bipolar cell dysfunction in POLG retinopathy

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Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

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OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

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Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes

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Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

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Variants in CFAP410 cause a range of retinal and skeletal phenotypes

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Electrophysiological and structural assessment of the central retina following intravitreal injection of bevacizumab for treatment of macular edema

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Prospective, cross-sectional study, demonstrating efficacy of blue fixation target while recording Pattern Visual Evoked Potential in optic neuropathy

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Electrophysiological and structural assessment of the central retina following intravitreal injection of bevacizumab for treatment of macular edema: Retinal Imaging and Electrophysiology in the Assess...

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Knowing when to refer a young patient to an ocular genetics program: Ophthalmologists need background information when treating young patients

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