Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 127 Records) |
| Query Trace: Disease and ABCA4[original query] |
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| Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry. Acta ophthalmologica 2021 8 100 (4): 395-402. Runhart Esmee H, Dhooge Patty, Meester-Smoor Magda, Pas Jeroen, Pott Jan Willem R, van Leeuwen Redmer, Kroes Hester Y, Bergen Arthur A, de Jong-Hesse Yvonne, Thiadens Alberta A, van Schooneveld Mary J, van Genderen Maria, Boon Camiel, Klaver Caroline, van den Born L Ingeborg, Cremers Frans P M, Hoyng Carel |
| Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes 2021 6 12 (6): . Buhler Virginie M M, Berger Lieselotte, Schaller André, Zinkernagel Martin S, Wolf Sebastian, Escher Pasc |
| 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 |
A genomewide association study on individuals with occludable angles identifies potential risk loci for intraocular pressure.
Journal of genetics 2021 10 100 . Chakraborty Sudipta, Sharma Anshul, Bagchi Indranil, Pal Soumen, Bhattacharyya Chandrika, Gupta Viney, Maitra Arindam, Bhattacharjee Samsiddhi, Sharma Arundhati, Sihota Ramanjit, Acharya Moulina |
| Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in genetics 2022 7 13 914345. Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar |
| Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion. Acta neuropathologica communications 2022 4 10 (1): 43. Bossaerts Liene, Hendrickx Van de Craen Elisabeth, Cacace Rita, Asselbergh Bob, Van Broeckhoven Christi |
| Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. PLoS genetics 2022 3 18 (3): e1010129. Zernant Jana, Lee Winston, Wang Jun, Goetz Kerry, Ullah Ehsan, Nagasaki Takayuki, Su Pei-Yin, Fishman Gerald A, Tsang Stephen H, Tumminia Santa J, Brooks Brian P, Hufnagel Robert B, Chen Rui, Allikmets Ran |
| Association of genetic polymorphisms of VAX1, MAFB, and NTN1 with nonsyndromic cleft lip with or without cleft palate in Chinese population. Molecular genetics and genomics : MGG 2022 Feb . Peng Li, Niu Zhenmin, Chen Jiapei, Wan Teng, Wu Dandan, Yang Yusheng, Wang Guomin, Yang Lin, Huang Wei, Chen Zhen |
| Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients. Journal of ophthalmic & vision research 2022 2 17 (1): 51-58. Darbari Ensieh, Ahmadieh Hamid, Daftarian Narsis, Rezaei Kanavi Mozhgan, Suri Fatemeh, Sabbaghi Hamideh, Elahi Ela |
| Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease. International journal of molecular sciences 2022 12 23 (24): . Sajovic Jana, Megli? Andrej, Hawlina Marko, Fakin A |
| 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 |
| Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI insight 2022 1 7 (2): . Pfau Maximilian, Cukras Catherine A, Huryn Laryssa A, Zein Wadih M, Ullah Ehsan, Boyle Marisa P, Turriff Amy, Chen Michelle A, Hinduja Aarti S, Siebel Hermann Ea, Hufnagel Robert B, Jeffrey Brett G, Brooks Brian |
| 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 |
| ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage. Investigative ophthalmology & visual science 2023 9 64 (12): 33. Jana Sajovic, Andrej Meglic, Zelia Corradi, Mubeen Khan, Aleš Maver, Martina Jarc Vidmar, Marko Hawlina, Frans P M Cremers, Ana Fak |
| Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy. JAMA ophthalmology 2023 7 . Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Maria Pia Manitto, Elisabetta Martina, Emanuela Aragona, Francesco Bandello, Maurizio Battaglia Paro |
| 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 |
| Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
| De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
| 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 |
| Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population. International journal of molecular sciences 2023 11 24 (22): . Vitaly V Kadyshev, Ekaterina A Alekseeva, Vladimir V Strelnikov, Anna A Stepanova, Alexander V Polyakov, Andrey V Marakhonov, Sergey I Kutsev, Rena A Zinchen |
| Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
| Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants. European journal of human genetics : EJHG 2024 9 . Gaby Schobers, Maartje Pennings, Juliette de Vries, Michael Kwint, Jeroen van Reeuwijk, Jordi Corominas Galbany, Ronald van Beek, Eveline Kamping, Raoul Timmermans, Erik-Jan Kamsteeg, Lonneke Haer-Wigman, Frans P M Cremers, Susanne Roosing, Christian Gilissen, Hannie Kremer, Han G Brunner, Helger G Yntema, Lisenka E L M Visse |
| Censoring the Floor Effect in Long-Term Stargardt Disease Microperimetry Data Produces a Faster Rate of Decline. Ophthalmology science 2024 9 4 (6): 100581. Jason Charng, Jennifer A Thompson, Rachael C Heath Jeffery, Amy Kalantary, Tina M Lamey, Terri L McLaren, Fred K Ch |
| Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants. Molecular genetics and genomics : MGG 2024 8 299 (1): 79. Oscar F Chacon-Camacho, Nancy Xilotl-de Jesús, Ernesto Calderón-Martínez, Vianey Ordoñez-Labastida, M Isabel Neria-Gonzalez, Rocío Villafuerte-de la Cruz, Augusto Martinez-Rojas, Juan Carlos Zente |
| Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (London, England) 2024 8 . Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch |
| Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies. Investigative ophthalmology & visual science 2024 5 65 (5): 9. Amit V Mishra, Sandra Vermeirsch, Siying Lin, Maria P Martin-Gutierrez, Mark Simcoe, Nikolas Pontikos, Elena Schiff, Thales A C de Guimarães, Pirro G Hysi, Michel Michaelides, Gavin Arno, Andrew R Webster, Omar A Mahr |
| Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis. JAMA ophthalmology 2024 4 . Stéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, Olivier Grunewald, Siying Lin, Zelia Corradi, Mubeen Khan, Rebekkah J Hitti-Malin, Laura Whelan, G Jane Farrar, Dror Sharon, L Ingeborgh van den Born, Gavin Arno, Mark Simcoe, Michel Michaelides, Andrew R Webster, Susanne Roosing, Omar A Mahroo, Claire-Marie Dhaenens, Frans P M Cremers, |
| Choroidal Hyperreflective Foci as Biomarkers of Severity in Stargardt Disease. Retina (Philadelphia, Pa.) 2024 12 . Seo Yoon Lee, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung L |
| Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease. medRxiv : the preprint server for health sciences 2024 11 . Aiden Zee, Winston Lee, Pei-Yin Su, Jana Zernant, Stephen H Tsang, Rando Allikme |
| Distinguishing ABCA4 from PRPH2-related disease: qualitative analysis of examination and imaging features. Ophthalmic genetics 2024 11 1-7. Kenneth C Fan, Calvin W Wong, Braden A Nichols, Roa Sadat, Troy C Becker, David M Brown, Charles C Wyko |
- Page last reviewed:Feb 1, 2024
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