Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: RP2[original query] |
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Interleukin 4, interleukin 6 and interleukin 10 polymorphisms in children with acute and chronic immune thrombocytopenic purpura. British journal of haematology 2005 Mar 128 (6): 849-52. Wu Kang-Hsi, Peng Ching-Tien, Li Tsai-Chung, Wan Lei, Tsai Chang-Hai, Lan Shou-Jen, Chang Ming-Cheng, Tsai Fuu-J |
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 |
Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma. Fertility and sterility 2007 Apr 87 (4): 886-95. Hsieh Yao-Yuan, Chang Chi-Chen, Tsai Chang-Hai, Lin Cheng-Chieh, Tsai Fuu-J |
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 |
Effect of anti-inflammatory (IL-4, IL-10) cytokine genes in relation to risk of cervical carcinoma. American journal of clinical oncology 2012 Dec 35 (6): 514-9. Shekari Mohammad, Kordi-Tamandani Dor Mohammad, MalekZadeh Kianoosh, Sobti Ranbir Chander, Karimi Samieh, Suri Vani |
Distribution of polymorphisms IL4-590 C/T and IL4 RP2 in the human populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissau. International journal of molecular epidemiology and genetics 2012 3 (2): 179-83. Berenguer Anabela G, Câmara Rita A, Brehm António D, Oliveira Susana, Fernandes Ana |
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 |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PloS one 2014 9 (8): e104281. Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man |
Expression of IL4 (VNTR intron 3) and IL10 (-627) genes polymorphisms in childhood immune thrombocytopenic purpura. Laboratory medicine 2014 45 (3): 211-9. Makhlouf Manal Mohamed, Elhamid Samah Mohamed A |
Possible association of IL-4 VNTR polymorphism with susceptibility to preeclampsia. BioMed research international 2014 2014 497031. Salimi Saeedeh, Mohammadoo-Khorasani Milad, Yaghmaei Minoo, Mokhtari Mojgan, Moossavi Mary |
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 |
Association between interleukin-4 gene intron 3 VNTR polymorphism and cancer risk. Cancer cell international 2014 14 (1): 131. Duan Yin, Pan Chi, Shi Jinan, Chen Hailong, Zhang Suzh |
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 |
Interleukin-1ß (IL-1ß) & IL-4 gene polymorphisms in patients with systemic lupus erythematosus (SLE) & their association with susceptibility to SLE. The Indian journal of medical research 2016 May 143 (5): 591-6. Mohammadoo-Khorasani Milad, Salimi Saeedeh, Tabatabai Ehsan, Sandoughi Mahnaz, Zakeri Zahra, Farajian-Mashhadi Farzan |
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 |
Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency. Fertility and sterility 2018 Aug 110 (3): 476-485.e1. Miranda-Furtado Cristiana L, Luchiari Heloise R, Chielli Pedroso Daiana C, Kogure Gislaine S, Caetano Lisandra C, Santana Bárbara A, Santana Viviane P, Benetti-Pinto Cristina L, Reis Fernando M, Maciel Mariella A, Ferriani Rui A, Ramos Ester S, Calado Rodrigo T, Dos Reis Rosana |
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 |
Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole?exome sequencing. Molecular medicine reports 2018 10 18 (6): 5016-5022. Fu Yue-Chuan, Chen Na, Qiu Zi-Long, Liu Lin, Shen J |
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 |
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. International journal of molecular sciences 2019 3 20 (6): . Kurata Kentaro, Hosono Katsuhiro, Hayashi Takaaki, Mizobuchi Kei, Katagiri Satoshi, Miyamichi Daisuke, Nishina Sachiko, Sato Miho, Azuma Noriyuki, Nakano Tadashi, Hotta Yoshihi |
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 |
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Sep . Fujinami Kaoru, Liu Xiao, Ueno Shinji, Mizota Atsushi, Shinoda Kei, Kuniyoshi Kazuki, Fujinami-Yokokawa Yu, Yang Lizhu, Arno Gavin, Pontikos Nikolas, Kameya Shuhei, Kominami Taro, Terasaki Hiroko, Sakuramoto Hiroyuki, Nakamura Natsuko, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Yoshiake Kazutoshi, Iwata Takeshi, Tsunoda Kazushige, |
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717. Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea |
Molecular Profiling for Predictors of Radiosensitivity in Patients with Breast or Head-and-Neck Cancer. Cancers 2020 4 12 (3): . Drobin Kimi, Marczyk Michal, Halle Martin, Danielsson Daniel, Papiez Anna, Sangsuwan Traimate, Bendes Annika, Hong Mun-Gwan, Qundos Ulrika, Harms-Ringdahl Mats, Wersäll Peter, Polanska Joanna, Schwenk Jochen M, Haghdoost Siam |
Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males. Eye (London, England) 2022 1 37 (2): 350-355. Saeed Omar Babar, Traboulsi Elias I, Coussa Razek Georg |
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- Page last updated:Apr 22, 2024
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