Human Genome Epidemiology Literature Finder
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Records 1 - 25 (of 25 Records) |
| Query Trace: Retinal Dystrophies and ABCA4[original query] |
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| The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European journal of human genetics : EJHG 2002 Mar 10 (3): 197-203. Maugeri Alessandra, Flothmann Kris, Hemmrich Nadine, Ingvast Sofie, Jorge Paula, Paloma Eva, Patel Reshma, Rozet Jean-Michel, Tammur Jaana, Testa Francesco, Balcells Susana, Bird Alan C, Brunner Han G, Hoyng Carel B, Metspalu Andres, Simonelli Francesca, Allikmets Rando, Bhattacharya Shomi S, D'Urso Michele, Gonzàlez-Duarte Roser, Kaplan Josseline, te Meerman Gerard J, Santos Rosário, Schwartz Marianne, Van Camp Guy, Wadelius Claes, Weber Bernhard H F, Cremers Frans P |
| ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Archives of ophthalmology (Chicago, Ill. : 1960) 2003 Jun 121 (6): 851-5. Fishman Gerald A, Stone Edwin M, Eliason David A, Taylor Chris M, Lindeman Martin, Derlacki Deborah |
| 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 |
| Host genetic and epigenetic factors in toxoplasmosis. Memórias do Instituto Oswaldo Cruz 2009 Mar 104 (2): 162-9. Jamieson Sarra E, Cordell Heather, Petersen Eskild, McLeod Rima, Gilbert Ruth E, Blackwell Jenefer |
| 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 |
| 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 |
| 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 |
| Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. Experimental eye research 2015 Nov . ?cie?y?ska Aneta, Ozi?b?o Dominika, Ambroziak Anna M, Korwin Magdalena, Szulborski Kamil, Krawczy?ski Maciej, Stawi?ski Piotr, Szaflik Jerzy, Szaflik Jacek P, P?oski Rafa?, O?dak Moni |
| 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 |
| CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
| Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. Journal of medical genetics 2017 Apr . Zernant Jana, Lee Winston, Collison Frederick T, Fishman Gerald A, Sergeev Yuri V, Schuerch Kaspar, Sparrow Janet R, Tsang Stephen H, Allikmets Ran |
| A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. Acta ophthalmologica 2017 10 96 (2): 183-191. Avela Kristiina, Sankila Eeva-Marja, Seitsonen Sanna, Kuuluvainen Liina, Barton Stephanie, Gillies Stuart, Aittomäki Kristii |
| Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing. Scientific reports 2018 Sep 8 (1): 13312. González-Del Pozo María, Martín-Sánchez Marta, Bravo-Gil Nereida, Méndez-Vidal Cristina, Chimenea Ángel, Rodríguez-de la Rúa Enrique, Borrego Salud, Antiñolo Guiller |
| 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 |
| A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2019 3 21 (10): 2336-2344. Wolock Charles J, Stong Nicholas, Ma Chu Jian, Nagasaki Takayuki, Lee Winston, Tsang Stephen H, Kamalakaran Sitharthan, Goldstein David B, Allikmets Ran |
| 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 |
| Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. Molecular genetics & genomic medicine 2019 11 8 (1): . Zenteno Juan C, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, Ronquillo Josué, Rodas-Serrano Agustín, Aguilar-Castul Luis, Matsui Rodrigo, Vencedor-Meraz Carlos I, Arce-González Rocío, Graue-Wiechers Federico, Gutiérrez-Paz Mario, Urrea-Victoria Tatiana, de Dios Cuadras Ulises, Chacón-Camacho Oscar |
| 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 |
| The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes. Genes 2021 Nov 12 (11): . Villanueva-Mendoza Cristina, Tuson Miquel, Apam-Garduño David, de Castro-Miró Marta, Tonda Raul, Trotta Jean Remi, Marfany Gemma, Valero Rebeca, Cortés-González Vianney, Gonzàlez-Duarte Ros |
| A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. Molecular vision 2022 11 28 300-316. Kjellström Ulrika, Andréasson St |
| Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population. International journal of molecular sciences 2023 11 24 (22): . Vitaly V Kadyshev, Ekaterina A Alekseeva, Vladimir V Strelnikov, Anna A Stepanova, Alexander V Polyakov, Andrey V Marakhonov, Sergey I Kutsev, Rena A Zinchen |
| Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland. Biomedicines 2024 6 12 (6): . Ewa Matczy?ska, Marta Be?-Gajowniczek, Larysa Sivitskaya, El?bieta Gregorczyk, Przemys?aw ?yszkiewicz, Robert Szyma?czak, Maria J?drzejowska, Edward Wyl?ga?a, Maciej R Krawczy?ski, S?awomir Teper, Anna Boguszewska-Chachuls |
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