Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 164 Records) |
Query Trace: 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 |
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes. Genes 2021 Nov 12 (11): . Villanueva-Mendoza Cristina, Tuson Miquel, Apam-Garduño David, de Castro-Miró Marta, Tonda Raul, Trotta Jean Remi, Marfany Gemma, Valero Rebeca, Cortés-González Vianney, Gonzàlez-Duarte Ros |
Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population. International journal of environmental research and public health 2021 10 18 (21): . Zawi?lak Alicja, Wo?niak Krzysztof, Agirre Xabier, Gupta Satish, Kawala Beata, Znamirowska-Bajowska Anna, Grocholewicz Katarzyna, Lubi?ski Jan, Prosper Felipe, Jakubowska An |
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 |
Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations. Investigative ophthalmology & visual science 2022 6 63 (6): 5. Tian Lu, Chen Chunjie, Song Yuning, Zhang Xiaohui, Xu Ke, Xie Yue, Jin Zi-Bing, Li Ya |
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 |
A general framework for identifying oligogenic combinations of rare variants in complex disorders. Genome research 2022 3 32 (5): 904-915. Pounraja Vijay Kumar, Girirajan Santho |
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 |
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 |
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 |
Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis. Scientific reports 2022 1 12 (1): 1214. Slavec Lara, Karas Kuželi?ki Nataša, Locatelli Igor, Geršak Kseni |
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 |
Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort. Gene 2023 9 147832. Lu Tian, Chun-Jie Chen, Yu-Ning Song, Ke Xu, Ni-En Li, Xiao-Hui Zhang, Yue Xie, Zi-Bing Jin, Yang |
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 |
Genetic Factors and Characteristics on Spectral-Domain Optical Coherence Tomography Are Associated to Choroidal Thickness in ABCA4-Related Retinopathy Factors of Choroidal Thickness in ABCA4 Retinopathy. Retina (Philadelphia, Pa.) 2023 9 . Yimin Wang, Jieqiong Chen, Min Zhang, Suqin Yu, Yuanyuan Gong, Feng Lin, Yidong Wu, Wenjia Liu, Junran Sun, Tong Li, Xiaodong Sun, |
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 |
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, |
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- Page last updated:Apr 22, 2024
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