HuGE Literature Finder
Records 1-15
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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, Krawczynski Maciej Robe |
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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, Mulle Jennifer G, Epstein Michael P, Sherman Stephanie L, Zwick Michael |
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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 |
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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 |
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Screening for susceptibility genes in hereditary non-polyposis colorectal cancer.
Oncology letters 2018 Jun 15 (6): 9413-9419. Yu Li, Yin Bo, Qu Kaiying, Li Jingjing, Jin Qiao, Liu Ling, Liu Chunlan, Zhu Yuxing, Wang Qi, Peng Xiaowei, Zhou Jianda, Cao Peiguo, Cao |
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Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2016 Nov 254 (11): 2227-2238. Wang Shiyuan, Zhang Qi, Zhang Xiang, Wang Zhaoyang, Zhao Peiqu |
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Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.
Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
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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 |
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Mutation analysis of Leber congenital amaurosis?associated genes in patients with retinitis pigmentosa.
Molecular medicine reports 2015 Mar 11 (3): 1827-32. Shen Tao, Guan Liping, Li Shiqiang, Zhang Jianguo, Xiao Xueshan, Jiang Hui, Yang Jianhua, Guo Xiangming, Wang Jun, Zhang Qingjio |
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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 |
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High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Journal of medical genetics 2012 Dec 49 (12): 756-67. Halbritter Jan, Diaz Katrina, Chaki Moumita, Porath Jonathan D, Tarrier Brendan, Fu Clementine, Innis Jamie L, Allen Susan J, Lyons Robert H, Stefanidis Constantinos J, Omran Heymut, Soliman Neveen A, Otto Edgar |
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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, |
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Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
PloS one 2011 6 (8): e23021. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
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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 |
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Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Molecular vision 2007 13 2160-2. Vallespin Elena, Lopez-Martinez Miguel-Angel, Cantalapiedra Diego, Riveiro-Alvarez Rosa, Aguirre-Lamban Jana, Avila-Fernandez Almudena, Villaverde Cristina, Trujillo-Tiebas Maria-Jose, Ayuso Carm |
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- Page last updated:Apr 15, 2021
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