HuGE Literature Finder
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Records 1-18
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High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
Scientific reports 2017 Jan 7 39652. Ezquerra-Inchausti Maitane, Barandika Olatz, Anasagasti Ander, Irigoyen Cristina, López de Munain Adolfo, Ruiz-Ederra Javi |
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Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
Acta ophthalmologica 2015 Feb 93 (1): e38-44. Fernandez-San Jose Patricia, Blanco-Kelly Fiona, Corton Marta, Trujillo-Tiebas Maria-Jose, Gimenez Ascension, Avila-Fernandez Almudena, Garcia-Sandoval Blanca, Lopez-Molina Maria-Isabel, Hernan Inma, Carballo Miguel, Riveiro-Alvarez Rosa, Ayuso Carm |
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104. Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo |
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Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.
Molecular vision 2014 20 1132-6. Yang Guoxing, Xie Shipeng, Feng Na, Yuan Zhifeng, Zhang Minglian, Zhao Jialia |
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Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Genetics and molecular research : GMR 2014 13 (4): 8815-33. Pierrottet C O, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti L M, Cecchin S, Orzalesi N, Bertelli |
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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 |
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Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Molecular vision 2013 19 654-64. de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu |
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Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
Molecular vision 2012 18 2398-410. Kim Cinoo, Kim Kwang Joong, Bok Jeong, Lee Eun-Ju, Kim Dong-Joon, Oh Ji Hee, Park Sung Pyo, Shin Joo Young, Lee Jong-Young, Yu Hyeong G |
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Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.
Molecular vision 2011 17 844-53. Kim Kwang Joong, Kim Cinoo, Bok Jeong, Kim Kyung-Seon, Lee Eun-Ju, Park Sung Pyo, Chung Hum, Han Bok-Ghee, Kim Hyung-Lae, Kimm Kuchan, Yu Hyeong Gon, Lee Jong-You |
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Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Ophthalmology 2010 Nov 117 (11): 2169-77.e3. Clark Graeme Richard, Crowe Paul, Muszynska Dorota, O'Prey Dominic, O'Neill Justin, Alexander Sharon, Willoughby Colin Eric, McKay Gareth John, Silvestri Giuliana, Simpson David Arth |
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Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Investigative ophthalmology & visual science 2010 Jul 51 (7): 3687-700. Audo Isabelle, Manes Gaël, Mohand-Saïd Saddek, Friedrich Anne, Lancelot Marie-Elise, Antonio Aline, Moskova-Doumanova Veselina, Poch Oliver, Zanlonghi Xavier, Hamel Christian P, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christi |
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Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.
Archives of ophthalmology (Chicago, Ill. : 1960) 2009 Jun 127 (6): 784-90. Lim King Poo, Yip Shea Ping, Cheung Suk Chun, Leung Kam Wah, Lam Stephen T S, To Chi |
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Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.
Molecular vision 2009 15 . Hartong DT, McGee TL, Sandberg MA, Berson EL, Asselbergs FW, van der Harst P, De Vivo I, Dryja TP |
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Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
Molecular vision 2008 14 1105-13. Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K |
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Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
Investigative ophthalmology & visual science 2007 Mar 48 (3): 1298-304. Sandberg Michael A, Rosner Bernard, Weigel-DiFranco Carol, Dryja Thaddeus P, Berson Eliot |
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Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
Molecular vision 2007 13 1038-44. Ando Yuichiro, Ohmori Masayuki, Ohtake Hideki, Ohtoko Kuniyo, Toyama Shigeru, Usami Ron, O'hira Aya, Hata Hiromi, Yanashima Kenji, Kato Seis |
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Utility of molecular testing for related retinal dystrophies.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2006 Apr 41 (2): 190-6. Mezer Eedy, Sutherland Joanne, Goei Stephanie L, Héon Elise, Levin Alex |
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[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].
Zhonghua yi xue za zhi 2005 Jun 85 (23): 1613-7. Wang Dan-yi, Fan Bao-jian, Chan Wai-man, Tam Oi-sin, Chiang Wai-yee, Lam Shun-chiu, Pang Chi-p |
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- Page last updated:Dec 12, 2019
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