Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 80 Records) |
| Query Trace: Stargardt Disease[original query] |
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| 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 |
| Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. American journal of ophthalmology 2020 7 219 195-204. Del Pozo-Valero Marta, Riveiro-Alvarez Rosa, Blanco-Kelly Fiona, Aguirre-Lamban Jana, Martin-Merida Inmaculada, Iancu Ionut-Florin, Swafiri Saoud, Lorda-Sanchez Isabel, Rodriguez-Pinilla Elvira, Trujillo-Tiebas Maria José, Jimenez-Rolando Belen, Carreño Ester, Mahillo-Fernandez Ignacio, Rivolta Carlo, Corton Marta, Avila-Fernandez Almudena, Garcia-Sandoval Blanca, Ayuso Carm |
| Novel variants associated with Stargardt disease in Chinese patients. Gene 2020 6 754 144890. Hu Fangyuan, Gao Fengjuan, Li Jiankang, Xu Ping, Wang Dandan, Chen Fang, Zhang Shenghai, Wu Jiho |
| Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet journal of rare diseases 2020 2 15 (1): 32. Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen |
| Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Experimental eye research 2020 12 202 108389. Sun Zixi, Yang Lizhu, Li Hui, Zou Xuan, Wang Lei, Wu Shijing, Zhu Tian, Wei Xing, Zhong Yong, Sui Ruifa |
| Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing. Eye and vision (London, England) 2020 1 7 3. Raj Rajendran Kadarkarai, Dhoble Pankaja, Anjanamurthy Rupa, Chermakani Prakash, Kumaran Manojkumar, Devarajan Bharanidharan, Sundaresan Periasa |
| 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 |
| 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 |
| Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease. Human molecular genetics 2021 Apr . Lee Winston, Zernant Jana, Nagasaki Takayuki, Molday Laurie L, Su Pei-Yin, Fishman Gerald A, Tsang Stephen H, Molday Robert S, Allikmets Ran |
| Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients. Eye (London, England) 2021 4 36 (4): 749-759. Ng Tsz Kin, Cao Yingjie, Yuan Xiang-Ling, Chen Shaowan, Xu Yanxuan, Chen Shao-Lang, Zheng Yuqian, Chen Hao |
| Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients. Frontiers in genetics 2021 4 12 646058. Mena Marcela D, Moresco Angélica A, Vidal Sofía H, Aguilar-Cortes Diana, Obregon María G, Fandiño Adriana C, Sendoya Juan M, Llera Andrea S, Podhajcer Osvaldo |
| 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 |
| Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease. European journal of ophthalmology 2022 4 32 (6): 3201-3207. Jimenez-Rolando B, Garcia-Sandoval B, Del Pozo-Valero M, Ayuso C, Garcia-Ferreira M, Abellanas M, Campos-Seco S, Carreño |
| 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 |
| 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 |
| Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence. Ophthalmic genetics 2022 11 43 (6): 834-840. Russell Matthew W, Muste Justin C, Seth Kanika, Kumar Madhukar, Rich Collin A, Singh Rishi P, Traboulsi Elias |
| The QChip1 knowledgebase and microarray for precision medicine in Qatar. NPJ genomic medicine 2022 Jan 7 (1): 3. Rodriguez-Flores Juan L, Messai-Badji Radja, Robay Amal, Temanni Ramzi, Syed Najeeb, Markovic Monika, Al-Khayat Eiman, Qafoud Fatima, Nawaz Zafar, Badii Ramin, Al-Sarraj Yasser, Mbarek Hamdi, Al-Muftah Wadha, Alvi Muhammad, Rostami Mahboubeh R, Cruzado Juan Carlos Martinez, Mezey Jason G, Shakaki Alya Al, Malek Joel A, Greenblatt Matthew B, Fakhro Khalid A, Machaca Khaled, Al-Nabet Ajayeb, Afifi Nahla, Brooks Andrew, Ismail Said I, Althani Asmaa, Crystal Ronald |
| 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 |
| Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study. Genes 2023 7 14 (7): . Jana Sajovic, Andrej Megli?, Ana Fakin, Jelka Brecelj, Maja Šuštar Habjan, Marko Hawlina, Martina Jarc Vidm |
| 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 |
| 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 |
| Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 1 . Gopinath Chitra, Rompicherla Ramya, Mathias Grace Priyaranjini, Patil Rajeshwari, Poornachandra B, Vinekar Anand, Mochi Thirumalesh B, Braganza Sherine, Shetty K Bhujang, Kumaramanickavel Govindasamy, Ghosh Anupri |
| 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 |
| Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases. JAMA network open 2024 5 7 (5): e2414198. Dongheon Surl, Dongju Won, Seung-Tae Lee, Christopher Seungkyu Lee, Junwon Lee, Hyun Taek Lim, Seung Ah Chung, Won Kyung Song, Min Kim, Sung Soo Kim, Saeam Shin, Jong Rak Choi, Riccardo Sangermano, Suk Ho Byeon, Kinga M Bujakowska, Jinu H |
| 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 |
- Page last reviewed:Feb 1, 2024
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