HuGE Literature Finder
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Records 1-17
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Relative frequency of inherited retinal dystrophies in Brazil.
Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
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Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Journal of human genetics 2016 Jul . Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa |
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Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.
Meta gene 2016 Jun 8 37-43. Tsipi Maria, Tzetis Maria, Kosma Konstantina, Moschos Marilita, Braoudaki Maria, Poulou Myrto, Kanavakis Emmanuel, Kitsiou-Tzeli Sof |
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Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.
Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
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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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Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
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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 |
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet journal of rare diseases 2015 10 (1): 85. Boulanger-Scemama Elise, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Souied Eric, Mohand-Saïd Saddek, Sahel José-Alain, Zeitz Christina, Audo Isabel |
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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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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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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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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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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
The British journal of ophthalmology 2009 May 93 (5): 614-21. Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas M J, Ramos C, Ayuso |
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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
European journal of human genetics : EJHG 2008 Jul 16 (7): 812-9. Kitiratschky Veronique B D, Grau Tanja, Bernd Antje, Zrenner Eberhart, Jägle Herbert, Renner Agnes B, Kellner Ulrich, Rudolph Günther, Jacobson Samuel G, Cideciyan Artur V, Schaich Simone, Kohl Susanne, Wissinger Ber |
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Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
Investigative ophthalmology & visual science 2007 Mar 48 (3): 985-90. Valverde Diana, Riveiro-Alvarez Rosa, Aguirre-Lamban Jana, Baiget Montserrat, Carballo Miguel, Antiñolo Guillermo, Millán José Maria, Garcia Sandoval Blanca, Ayuso Carm |
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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 |
- Page last reviewed:Jul 30, 2019
- Page last updated:Oct 10, 2019
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