Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and RP2[original query] |
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| RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. American journal of human genetics 2003 Nov 73 (5): 1131-46. Sharon Dror, Sandberg Michael A, Rabe Vivian W, Stillberger Melissa, Dryja Thaddeus P, Berson Eliot |
| Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Human mutation 2007 Jan 28 (1): 81-91. Pelletier Valérie, Jambou Marguerite, Delphin Nathalie, Zinovieva Elena, Stum Morgane, Gigarel Nadine, Dollfus Hélène, Hamel Christian, Toutain Annick, Dufier Jean-Louis, Roche Olivier, Munnich Arnold, Bonnefont Jean-Paul, Kaplan Josseline, Rozet Jean-Mich |
| Association of interleukin 4 VNTR polymorphism and HIV/AIDS in a north Indian seropositive patients. Molecular biology reports 2012 Mar 39 (3): 3251-7. Sobti Ranbiden Chandera, Berhane Nega, Mahdi Salih Abdul, Takur Hitnder, Wanch Aj |
| Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative ophthalmology & visual science 2012 Nov . Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A |
| Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61. Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen |
| A high IL-4 production diplotype is associated with an increased risk but better prognosis of oral and pharyngeal carcinomas. Archives of oral biology 2014 Jan 59 (1): 35-46. Yang Cheng-Mei, Chen Hung-Chih, Hou Yu-Yi, Lee Ming-Chien, Liou Huei-Han, Huang Sin-Jhih, Yen Liang-Ming, Eng Dong-Mei, Hsieh Yao-Dung, Ger Luo-Pi |
| High risk association of IL-4 VNTR polymorphism with asthma in a North Indian population. Cytokine 2014 Mar 66 (1): 87-94. Birbian Niti, Singh Jagtar, Jindal Surinder Kumar, Sobti Ranbir Chand |
| Genetic polymorphisms and asthma: findings from a case-control study in the Madeira island population. Biological research 2014 Sep 47 (1): 40. Berenguer Anabela, Fernandes Ana, Oliveira Susana, Rodrigues Mariana, Ornelas Pedro, Romeira Diogo, Serrão Tânia, Rosa Alexandra, Câmara Ri |
| Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. Investigative ophthalmology & visual science 2015 Apr 56 (4): 2173-82. Fernandez-San Jose Patricia, Corton Marta, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Lopez-Martinez Miguel Angel, Sanchez-Navarro Iker, Sanchez-Alcudia Rocio, Perez-Carro Raquel, Zurita Olga, Sanchez-Bolivar Noelia, Lopez-Molina Maria Isabel, Garcia-Sandoval Blanca, Riveiro-Alvarez Rosa, Ayuso Carm |
| Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. Acta ophthalmologica 2015 Oct . Widgren Paula, Hurme Anri, Falck Aura, Keski-Filppula Riikka, Remes Anne M, Moilanen Jukka, Majamaa Kari, Kervinen Marko, Uusimaa Johan |
| Association of IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms with risk of mitral valve disease in children with rheumatic heart disease. Cardiology in the young 2015 Oct 1-7. Yousry Sherif M, Sedky Yasser, Sobieh Al |
| Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation. European journal of ophthalmology 2016 Oct 0. Parmeggiani Francesco, Barbaro Vanessa, Migliorati Angelo, Raffa Paolo, Nespeca Patrizia, De Nadai Katia, Del Vecchio Claudia, Palù Giorgio, Parolin Cristina, Di Iorio En |
| Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
| Association between interleukin 4 (IL-4) VNTR, gene polymorphism, and breast cancer susceptibility in Iranian population: experimental and web base analysis. Bratislavske lekarske listy 0 119 (10): 651-654. Ibrahimi M, Jamalzei B, Akbari M E, Ibrahimi R, Alaei M, Moossavi M, Mohammadoo-Khorasani |
| Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
- Page last reviewed:Feb 1, 2024
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