Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Vision and ABCA4[original query] |
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| The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European journal of human genetics : EJHG 2002 Mar 10 (3): 197-203. Maugeri Alessandra, Flothmann Kris, Hemmrich Nadine, Ingvast Sofie, Jorge Paula, Paloma Eva, Patel Reshma, Rozet Jean-Michel, Tammur Jaana, Testa Francesco, Balcells Susana, Bird Alan C, Brunner Han G, Hoyng Carel B, Metspalu Andres, Simonelli Francesca, Allikmets Rando, Bhattacharya Shomi S, D'Urso Michele, Gonzàlez-Duarte Roser, Kaplan Josseline, te Meerman Gerard J, Santos Rosário, Schwartz Marianne, Van Camp Guy, Wadelius Claes, Weber Bernhard H F, Cremers Frans P |
| N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. Molecular vision 2007 13 1962-9. Rosenberg Thomas, Klie Flemming, Garred Peter, Schwartz Marian |
| Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Investigative ophthalmology & visual science 2012 Jul 53 (8): 4409-15. Testa Francesco, Rossi Settimio, Sodi Andrea, Passerini Ilaria, Di Iorio Valentina, Della Corte Michele, Banfi Sandro, Surace Enrico Maria, Menchini Ugo, Auricchio Alberto, Simonelli Frances |
| Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
| Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. Ophthalmology 2013 Nov 120 (11): 2332-7. Riveiro-Alvarez Rosa, Lopez-Martinez Miguel-Angel, Zernant Jana, Aguirre-Lamban Jana, Cantalapiedra Diego, Avila-Fernandez Almudena, Gimenez Ascension, Lopez-Molina Maria-Isabel, Garcia-Sandoval Blanca, Blanco-Kelly Fiona, Corton Marta, Tatu Sorina, Fernandez-San Jose Patricia, Trujillo-Tiebas Maria-Jose, Ramos Carmen, Allikmets Rando, Ayuso Carm |
| Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. Investigative ophthalmology & visual science 2014 Sep 55 (9): 5510-21. Alapati Akhila, Goetz Kerry, Suk John, Navani Mili, Al-Tarouti Amani, Jayasundera Thiran, Tumminia Santa J, Lee Pauline, Ayyagari Rad |
| Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Apr 17 (4): 262-70. Zaneveld Jacques, Siddiqui Sorath, Li Huajin, Wang Xia, Wang Hui, Wang Keqing, Li Hui, Ren Huanan, Lopez Irma, Dorfman Allison, Khan Ayesha, Wang Feng, Salvo Jason, Gelowani Violet, Li Yumei, Sui Ruifang, Koenekoop Robert, Chen R |
| Early-onset stargardt disease: phenotypic and genotypic characteristics. Ophthalmology 2015 Feb 122 (2): 335-44. Lambertus Stanley, van Huet Ramon A C, Bax Nathalie M, Hoefsloot Lies H, Cremers Frans P M, Boon Camiel J F, Klevering B Jeroen, Hoyng Carel |
| Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet journal of rare diseases 2015 10 (1): 85. Boulanger-Scemama Elise, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Souied Eric, Mohand-Saïd Saddek, Sahel José-Alain, Zeitz Christina, Audo Isabel |
| Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Investigative ophthalmology & visual science 2016 Sep 57 (11): 4668-78. Fakin Ana, Robson Anthony G, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Pei-Wen Chiang John, E Holder Graham, Webster Andrew |
| CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
| Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic genetics 2017 Sep 1-7. Villanueva Adda, Biswas Pooja, Kishaba Kameron, Suk John, Tadimeti Keerti, Raghavendra Pongali B, Nadeau Karine, Lamontagne Bruno, Busque Lambert, Geoffroy Steve, Mongrain Ian, Asselin Géraldine, Provost Sylvie, Dubé Marie-Pierre, Nudleman Eric, Ayyagari Rad |
| Exome sequencing study of 20 patients with high myopia. PeerJ 2018 9 6 e5552. Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi |
| Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. International journal of molecular sciences 2018 8 19 (8): . Nassisi Marco, Mohand-Saïd Saddek, Dhaenens Claire-Marie, Boyard Fiona, Démontant Vanessa, Andrieu Camille, Antonio Aline, Condroyer Christel, Foussard Marine, Méjécase Cécile, Eandi Chiara Maria, Sahel José-Alain, Zeitz Christina, Audo Isabel |
| Retinal dystrophies with bull's-eye maculopathy along with negative ERGs. Documenta ophthalmologica. Advances in ophthalmology 2019 4 139 (1): 45-57. Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner |
| Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans. Molecular vision 2019 12 25 679-690. Joo Kwangsic, Seong Moon-Woo, Park Kyu Hyung, Park Sung Sup, Woo Se Jo |
| The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa. Molecular vision 2020 9 26 613-622. Midgley Nicole, Roberts Lisa, Rebello George, Ramesar R |
| Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease. Bioscience reports 2021 5 41 (6): . Qu Ling-Hui, Jin Xin, Zeng Chao, Zhou Nian-Gou, Liu Yan-Hong, Lin |
| Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy. JAMA ophthalmology 2021 Oct . de Breuk Anita, Heesterbeek Thomas J, Bakker Bjorn, Verzijden Timo, Lechanteur Yara T E, Klaver Caroline C W, den Hollander Anneke I, Hoyng Carel |
| Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. Scientific reports 2022 12 12 (1): 20815. Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand |
| A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. Molecular vision 2022 11 28 300-316. Kjellström Ulrika, Andréasson St |
| Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases. Human mutation 2022 Oct . Hitti-Malin Rebekkah J, Dhaenens Claire-Marie, Panneman Daan M, Corradi Zelia, Khan Mubeen, Hollander Anneke I den, Farrar G Jane, Gilissen Christian, Hoischen Alexander, van de Vorst Maartje, Bults Femke, Boonen Erica G M, Saunders Patrick, Roosing Susanne, Cremers Frans P |
| Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry. Molecular vision 2023 6 29 1-12. Tamar Ben Yosef, Eyal Banin, Elana Chervinsky, Stavit A Shalev, Rina Leibu, Eedy Mezer, Ygal Rotenstreich, Nitza Goldenberg-Cohen, Shirel Weiss, Muhammad Imran Khan, Daan M Panneman, Rebekkah J Hitti-Malin, Chen Weiner, Susanne Roosing, Frans P M Cremers, Eran Pras, Dinah Zur, Hadas Newman, Iris Deitch, Dror Sharon, Miriam Ehrenbe |
| Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data. Human molecular genetics 2023 11 . Erin R Burnight, Beau J Fenner, Ian C Han, Adam P DeLuca, S Scott Whitmore, Laura R Bohrer, Jeaneen L Andorf, Elliott H Sohn, Robert F Mullins, Budd A Tucker, Edwin M Sto |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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