Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Syndrome and CEP290[original query] |
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| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
| Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis. Molecular cytogenetics 2014 7 (1): 6. Kooper Angelique Ja, Faas Brigitte Hw, Feenstra Ilse, de Leeuw Nicole, Smeets Dominique F |
| Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi |
| Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. Molecular vision 2017 10 23 649-659. Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong R |
| Genetic tests aid in counseling of fetuses with cerebellar vermis defects. Prenatal diagnosis 2020 5 40 (10): 1228-1238. Li Lushan, Fu Fang, Li Ru, Xiao Weiqiang, Yu Qiuxia, Wang Dan, Jing Xiangyi, Zhang Yongning, Yang Xin, Pan Min, Liu Zequn, Liao C |
| Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
| Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. Molecular vision 2020 3 26 26-35. Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji |
| Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome. Scientific reports 2020 Oct 10 (1): 18051. Trevino Cristina E, Holleman Aaron M, Corbitt Holly, Maslen Cheryl L, Rosser Tracie C, Cutler David J, Johnston H Richard, Rambo-Martin Benjamin L, Oberoi Jai, Dooley Kenneth J, Capone George T, Reeves Roger H, Cordell Heather J, Keavney Bernard D, Agopian A J, Goldmuntz Elizabeth, Gruber Peter J, O'Brien James E, Bittel Douglas C, Wadhwa Lalita, Cua Clifford L, Moskowitz Ivan P, Mulle Jennifer G, Epstein Michael P, Sherman Stephanie L, Zwick Michael |
| Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. American journal of ophthalmology 2022 12 248 96-106. Zhu Tian, Shen Yue, Sun Zixi, Han Xiaoxu, Wei Xing, Li Wuyi, Lu Chao, Cheng Tingting, Zou Xuan, Li Hui, Cao Zongfu, Gao Huafang, Ma Xu, Luo Minna, Sui Ruifa |
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