HuGE Literature Finder
Records 1-27
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CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
Ophthalmic genetics 2018 Oct 1-7. Sodi Andrea, Passerini Ilaria, Bacherini Daniela, Boni Luca, Palchetti Simona, Murro Vittoria, Caporossi Orsola, Mucciolo Dario Pasquale, Franco Fabrizio, Vannozzi Lorenzo, Torricelli Francesca, Pelo Elisabetta, Rizzo Stanislao, Virgili Gian |
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Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.
Investigative ophthalmology & visual science 2016 Jul 57 (8): 3759-68. Galli-Resta Lucia, Falsini Benedetto, Rossi Giuseppe, Piccardi Marco, Ziccardi Lucia, Fadda Antonello, Minnella Angelo, Marangoni Dario, Placidi Giorgio, Campagna Francesca, Abed Edoardo, Bertelli Matteo, Zuntini Monia, Resta Giovan |
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LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Retina (Philadelphia, Pa.) 2016 Jul . Mathijssen Inge B, Florijn Ralph J, van den Born L Ingeborgh, Zekveld-Vroon Renate C, Ten Brink Jacoline B, Plomp Astrid S, Baas Frank, Meijers-Heijboer Hanne, Bergen Arthur A B, van Schooneveld Mary |
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Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.
Translational vision science & technology 2016 Mar 5 (2): 4. Ogino Ken, Oishi Akio, Oishi Maho, Gotoh Norimoto, Morooka Satoshi, Sugahara Masako, Hasegawa Tomoko, Miyata Manabu, Yoshimura Nagahi |
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Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Investigative ophthalmology & visual science 2016 Jan 57 (1): 145-52. Jiang Feng, Pan Zhe, Xu Ke, Tian Lu, Xie Yue, Zhang Xiaohui, Chen Jieqiong, Dong Bing, Li Ya |
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Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Investigative ophthalmology & visual science 2015 Dec 56 (13): 8297-305. Coussa Razek Georges, Chakarova Christina, Ajlan Radwan, Taha Mohammed, Kavalec Conrad, Gomolin Julius, Khan Ayesha, Lopez Irma, Ren Huanan, Waseem Naushin, Kamenarova Kunka, Bhattacharya Shomi S, Koenekoop Robert |
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GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
Documenta ophthalmologica. Advances in ophthalmology 2015 Oct 131 (2): 105-14. Jiang Feng, Xu Ke, Zhang Xiaohui, Xie Yue, Bai Fengge, Li Ya |
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Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
JAMA ophthalmology 2015 Mar 133 (3): 312-8. Shevach Elia, Ali Manir, Mizrahi-Meissonnier Liliana, McKibbin Martin, El-Asrag Mohammed, Watson Christopher M, Inglehearn Chris F, Ben-Yosef Tamar, Blumenfeld Anat, Jalas Chaim, Banin Eyal, Sharon Dr |
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Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.
JAMA ophthalmology 2015 Feb 133 (2): 157-64. Blanco-Kelly Fiona, Jaijo Teresa, Aller Elena, Avila-Fernandez Almudena, López-Molina María Isabel, Giménez Ascensión, García-Sandoval Blanca, Millán José M, Ayuso Carm |
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Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Journal of ophthalmology 2015 2015 693468. Hosono Katsuhiro, Harada Yuko, Kurata Kentaro, Hikoya Akiko, Sato Miho, Minoshima Shinsei, Hotta Yoshihi |
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Exclusion of influences of ARMS2 polymorphisms on the central visual field in retinitis pigmentosa.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2014 231 (1): 51-7. Masahara Hidetaka, Nakazawa Mitsuru, Kawamura Eiji, Eguchi Shuichi |
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SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Nature communications 2014 5 3517. Jin Zi-Bing, Huang Xiu-Feng, Lv Ji-Neng, Xiang Lue, Li Dong-Qing, Chen Jiangfei, Huang Changjiang, Wu Jinyu, Lu Fan, Qu J |
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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Ophthalmology 2013 Nov 120 (11): 2332-7. Riveiro-Alvarez Rosa, Lopez-Martinez Miguel-Angel, Zernant Jana, Aguirre-Lamban Jana, Cantalapiedra Diego, Avila-Fernandez Almudena, Gimenez Ascension, Lopez-Molina Maria-Isabel, Garcia-Sandoval Blanca, Blanco-Kelly Fiona, Corton Marta, Tatu Sorina, Fernandez-San Jose Patricia, Trujillo-Tiebas Maria-Jose, Ramos Carmen, Allikmets Rando, Ayuso Carm |
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) 2012 Nov 130 (11): 1425-32. Estrada-Cuzcano Alejandro, Koenekoop Robert K, Senechal Audrey, De Baere Elfride B W, de Ravel Thomy, Banfi Sandro, Kohl Susanne, Ayuso Carmen, Sharon Dror, Hoyng Carel B, Hamel Christian P, Leroy Bart P, Ziviello Carmela, Lopez Irma, Bazinet Alexandre, Wissinger Bernd, Sliesoraityte Ieva, Avila-Fernandez Almudena, Littink Karin W, Vingolo Enzo M, Signorini Sabrina, Banin Eyal, Mizrahi-Meissonnier Liliana, Zrenner Eberhard, Kellner Ulrich, Collin Rob W J, den Hollander Anneke I, Cremers Frans P M, Klevering B Jero |
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
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Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Investigative ophthalmology & visual science 2011 Aug 52 (9): 6206-12. Aguirre-Lamban Jana, González-Aguilera Juan José, Riveiro-Alvarez Rosa, Cantalapiedra Diego, Avila-Fernandez Almudena, Villaverde-Montero Cristina, Corton Marta, Blanco-Kelly Fiona, Garcia-Sandoval Blanca, Ayuso Carm |
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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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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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Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Investigative ophthalmology & visual science 2008 Dec 49 (12): 5532-9. Sandberg Michael A, Rosner Bernard, Weigel-DiFranco Carol, McGee Terri L, Dryja Thaddeus P, Berson Eliot |
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A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
American journal of ophthalmology 2008 Nov 146 (5): 780-8. Tsang Stephen H, Tsui Irena, Chou Chai Lin, Zernant Jana, Haamer Eneli, Iranmanesh Reza, Tosi Joaquin, Allikmets Ran |
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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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Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
Investigative ophthalmology & visual science 2005 May 46 (5): 1735-41. Wada Yuko, Sandberg Michael A, McGee Terri L, Stillberger Melissa A, Berson Eliot L, Dryja Thaddeus |
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Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
European journal of human genetics : EJHG 2004 Dec 12 (12): 1024-32. Klevering B Jeroen, Yzer Suzanne, Rohrschneider Klaus, Zonneveld Marijke, Allikmets Rando, van den Born L Ingeborgh, Maugeri Alessandra, Hoyng Carel B, Cremers Frans P |
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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 |
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[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2003 Jan 39 (1): 28-32. Cui Yun, Zhao Kan-xing, Wang Li, Wang Qing, Zhang Wei, Chen Wei-ying, Wang Li-mi |
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- Page last updated:May 30, 2020
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