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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 5, 2023. (Total: 217663Documents)
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Records 1 - 12 (of 12 Records)

Query Trace: Retinal Dystrophies and USH2A[original query]
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
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
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
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
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
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PloS one 2018 12 13 (12): e0207958.
Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet
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
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
Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies.
Ophthalmic surgery, lasers & imaging retina 2020 6 51 (6): 338-345.
McGowan Heather, Madreperla Olivia R, Snyder Alexandra L, Fine Howard
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
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
Frontiers in aging neuroscience 2022 8 14 948279.
Su Bing-Nan, Shen Ren-Juan, Liu Zhuo-Lin, Li Yang, Jin Zi-Bi
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