HuGE Literature Finder
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| Combination of panel-based next-generation sequencing and clinical findings in congenital ectopia lentis diagnosed in Chinese patients. American journal of ophthalmology 2021 Nov . Chen Tian-Hui, Chen Ze-Xu, Zhang Min, Chen Jia-Hui, Deng Michael, Zheng Jia-Lei, Lan Li-Na, Jiang Yong-Xia |
| An Exome Sequencing Study of 10 Families with IgA Nephropathy. Nephron 2019 Dec 1-12. Stapleton Caragh P, Kennedy Claire, Fennelly Neil K, Murray Susan L, Connaughton Dervla M, Dorman Anthony M, Doyle Brendan, Cavalleri Gianpiero L, Conlon Peter |
| [Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Sep 57 (9): 674-679. Liu J W, Wang P, Huang J, Nie X J, Zhao F, Chen L Z, Li Z, Yu Z |
| Exome-Based Rare-Variant Analyses in CKD. Journal of the American Society of Nephrology : JASN 2019 May . Cameron-Christie Sophia, Wolock Charles J, Groopman Emily, Petrovski Slavé, Kamalakaran Sitharthan, Povysil Gundula, Vitsios Dimitrios, Zhang Mengqi, Fleckner Jan, March Ruth E, Gelfman Sahar, Marasa Maddalena, Li Yifu, Sanna-Cherchi Simone, Kiryluk Krzysztof, Allen Andrew S, Fellström Bengt C, Haefliger Carolina, Platt Adam, Goldstein David B, Gharavi Ali |
| [Clinical and genetic features of X-linked Alport syndrome in men positive for the collagen ? a5 chain in epidermal basement membrane]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2016 Jan 54 (1): 61-4. Zhang Y Q, Ding J, Wang F, Zhang H W, Xiao H J, Yao Y, Zhong X H, Guan N, Liu X Y, Yu L X, Liu J C, Yang J |
| Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2016 Jan . Weber Stefanie, Strasser Katja, Rath Sabine, Kittke Achim, Beicht Sonja, Alberer Martin, Lange-Sperandio Bärbel, Hoyer Peter F, Benz Marcus R, Ponsel Sabine, Weber Lutz T, Klein Hanns-Georg, Hoefele Jul |
| Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015 Sep . Gast Christine, Pengelly Reuben J, Lyon Matthew, Bunyan David J, Seaby Eleanor G, Graham Nikki, Venkat-Raman Gopalakrishnan, Ennis Sar |
| Improving mutation screening in familial hematuric nephropathies through next generation sequencing. Journal of the American Society of Nephrology : JASN 2014 Dec 25 (12): 2740-51. Morinière Vincent, Dahan Karin, Hilbert Pascale, Lison Marieline, Lebbah Said, Topa Alexandra, Bole-Feysot Christine, Pruvost Solenn, Nitschke Patrick, Plaisier Emmanuelle, Knebelmann Bertrand, Macher Marie-Alice, Noel Laure-Hélène, Gubler Marie-Claire, Antignac Corinne, Heidet Lauren |
| Epistatic role of the MYH9/APOL1 region on familial hematuria genes. PloS one 2013 8 (3): e57925. Voskarides Konstantinos, Demosthenous Panayiota, Papazachariou Louiza, Arsali Maria, Athanasiou Yiannis, Zavros Michalis, Stylianou Kostas, Xydakis Dimitris, Daphnis Eugenios, Gale Daniel P, Maxwell Patrick H, Elia Avraam, Pattaro Cristian, Pierides Alkis, Deltas Constantin |
| Genotype-phenotype correlation in X-linked Alport syndrome. Journal of the American Society of Nephrology : JASN 2010 Apr . Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW |
| The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms. The British journal of ophthalmology 2009 Mar 93 (3): 379-82. Liu J, Colville D, Wang Y Y, Baird P N, Guymer R H, Savige |
| Phenotypic and genotypic features of Alport syndrome in Chinese children. Pediatric nephrology (Berlin, Germany) 2002 Dec 17 (12): 1013-20. Wang Fang, Ding Jie, Guo Shunhua, Yang Jiy |
| Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002 Jul 17 (7): 1218-27. Gross Oliver, Netzer Kai-Olaf, Lambrecht Romy, Seibold Stefan, Weber Manfr |
| The use of frailty models in genetic studies: application to the relationship between end-stage renal failure and mutation type in Alport syndrome. European Community Alport Syndrome Concerted Action Group (ECASCA). Journal of epidemiology and biostatistics 2000 5 (3): 169-75. Albert I, Jais J |
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- Page last updated:Jun 28, 2022
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