Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: Retinitis Pigmentosa and ABCA4[original query] |
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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 |
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 |
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 |
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 |
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 |
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 |
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 |
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PloS one 2014 12 9 (12): e116176. González-del Pozo María, Méndez-Vidal Cristina, Bravo-Gil Nereida, Vela-Boza Alicia, Dopazo Joaquin, Borrego Salud, Antiñolo Guiller |
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 |
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 |
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 |
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 |
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 |
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 |
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans. Molecular vision 2019 12 25 679-690. Joo Kwangsic, Seong Moon-Woo, Park Kyu Hyung, Park Sung Sup, Woo Se Jo |
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes 2019 11 10 (12): . Tracewska Anna M, Kocy?a-Karczmarewicz Beata, Rafalska Agnieszka, Murawska Joanna, Jakubaszko-Jablonska Joanna, Rydzanicz Ma?gorzata, Stawi?ski Piotr, Ciara El?bieta, Khan Muhammad Imran, Henkes Arjen, Hoischen Alexander, Gilissen Christian, van de Vorst Maartje, Cremers Frans P M, P?oski Rafa?, Chrzanowska Krystyna |
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet journal of rare diseases 2020 2 15 (1): 32. Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen |
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Experimental eye research 2020 12 202 108389. Sun Zixi, Yang Lizhu, Li Hui, Zou Xuan, Wang Lei, Wu Shijing, Zhu Tian, Wei Xing, Zhong Yong, Sui Ruifa |
Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients. Eye (London, England) 2021 4 36 (4): 749-759. Ng Tsz Kin, Cao Yingjie, Yuan Xiang-Ling, Chen Shaowan, Xu Yanxuan, Chen Shao-Lang, Zheng Yuqian, Chen Hao |
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in genetics 2022 7 13 914345. Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar |
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry. Molecular vision 2023 6 29 1-12. Tamar Ben Yosef, Eyal Banin, Elana Chervinsky, Stavit A Shalev, Rina Leibu, Eedy Mezer, Ygal Rotenstreich, Nitza Goldenberg-Cohen, Shirel Weiss, Muhammad Imran Khan, Daan M Panneman, Rebekkah J Hitti-Malin, Chen Weiner, Susanne Roosing, Frans P M Cremers, Eran Pras, Dinah Zur, Hadas Newman, Iris Deitch, Dror Sharon, Miriam Ehrenbe |
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
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- Page last updated:Jun 24, 2024
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