Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Disease and GUCY2D[original query] |
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| Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Investigative ophthalmology & visual science 2007 Sep 48 (9): 4284-90. Simonelli Francesca, Ziviello Carmela, Testa Francesco, Rossi Settimio, Fazzi Elisa, Bianchi Paolo Emilio, Fossarello Maurizio, Signorini Sabrina, Bertone Chiara, Galantuomo Silvana, Brancati Francesco, Valente Enza Maria, Ciccodicola Alfredo, Rinaldi Ernesto, Auricchio Alberto, Banfi Sand |
| Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
| Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PloS one 2013 8 (1): 1. Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM |
| 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 |
| 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 |
| 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 |
| 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 |
| Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
| The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS. PloS one 2020 4 15 (4): e0231115. Feng Xue, Wei Tianying, Sun Junhui, Luo Yuqin, Huo Yanan, Yu Ping, Chen Jiao, Wei Xiaoming, Qi Ming, Ye Yingh |
| 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 |
| Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe |
| Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod- and cone-dominated dystrophies. American journal of ophthalmology 2023 6 . Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Marta Del Pozo-Valero, Irene Perea-Romero, Saoud T Swafiri, Olga Zurita, Cristina Villaverde, Miguel A López, Raquel Romero, Ionut Florin Iancu, Gonzalo Núñez-Moreno, Belén Jiménez-Rolando, María Pilar Martin-Gutierrez, Ester Carreño, Pablo Minguez, Blanca García-Sandoval, Carmen Ayuso, Marta Cort |
| Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5. Genes 2023 10 14 (10): . Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Seong Joon Ahn, Hui Li, Kyu Hyung Park, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujina |
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