HuGE Literature Finder
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| 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 |
Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen.
Journal of the American Society of Nephrology : JASN 2019 Sep . Salem Rany M, Todd Jennifer N, Sandholm Niina, Cole Joanne B, Chen Wei-Min, Andrews Darrell, Pezzolesi Marcus G, McKeigue Paul M, Hiraki Linda T, Qiu Chengxiang, Nair Viji, Di Liao Chen, Cao Jing Jing, Valo Erkka, Onengut-Gumuscu Suna, Smiles Adam M, McGurnaghan Stuart J, Haukka Jani K, Harjutsalo Valma, Brennan Eoin P, van Zuydam Natalie, Ahlqvist Emma, Doyle Ross, Ahluwalia Tarunveer S, Lajer Maria, Hughes Maria F, Park Jihwan, Skupien Jan, Spiliopoulou Athina, Liu Andrew, Menon Rajasree, Boustany-Kari Carine M, Kang Hyun M, Nelson Robert G, Klein Ronald, Klein Barbara E, Lee Kristine E, Gao Xiaoyu, Mauer Michael, Maestroni Silvia, Caramori Maria Luiza, de Boer Ian H, Miller Rachel G, Guo Jingchuan, Boright Andrew P, Tregouet David, Gyorgy Beata, Snell-Bergeon Janet K, Maahs David M, Bull Shelley B, Canty Angelo J, Palmer Colin N A, Stechemesser Lars, Paulweber Bernhard, Weitgasser Raimund, Sokolovska Jelizaveta, Rovite Vita, Pirags Valdis, Prakapiene Edita, Radzeviciene Lina, Verkauskiene Rasa, Panduru Nicolae Mircea, Groop Leif C, McCarthy Mark I, Gu Harvest F, Möllsten Anna, Falhammar Henrik, Brismar Kerstin, Martin Finian, Rossing Peter, Costacou Tina, Zerbini Gianpaolo, Marre Michel, Hadjadj Samy, McKnight Amy J, Forsblom Carol, McKay Gareth, Godson Catherine, Maxwell A Peter, Kretzler Matthias, Susztak Katalin, Colhoun Helen M, Krolewski Andrzej, Paterson Andrew D, Groop Per-Henrik, Rich Stephen S, Hirschhorn Joel N, Florez Jose C, |
| 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 |
| 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 |
| Steroid Pathway Genes and Neonatal Respiratory Distress After Betamethasone Use in Anticipated Preterm Birth. Reproductive sciences (Thousand Oaks, Calif.) 2015 Oct . Haas David M, Lai Dongbing, Sharma Sunita, Then Jenny, Kho Alvin, Flockhart David A, Tantisira Kelan, Foroud Tatia |
| 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 |
| Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. European journal of human genetics : EJHG 2015 Sep 23 (9): 1192-9. Bullich Gemma, Trujillano Daniel, Santín Sheila, Ossowski Stephan, Mendizábal Santiago, Fraga Gloria, Madrid Álvaro, Ariceta Gema, Ballarín José, Torra Roser, Estivill Xavier, Ars Elisab |
| COL4A3 mutations cause focal segmental glomerulosclerosis. Journal of molecular cell biology 2014 Dec 6 (6): 498-505. Xie Jingyuan, Wu Xiaoxi, Ren Hong, Wang Weiming, Wang Zhaohui, Pan Xiaoxia, Hao Xu, Tong Jun, Ma Jun, Ye Zhibin, Meng Guoyu, Zhu Yufei, Kiryluk Krzysztof, Kong Xiangyin, Hu Landian, Chen N |
| 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 |
| Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy. The Indian journal of medical research 2009 May 129 (5): 525-33. Baek Jeong-In, Choi Su-Jin, Park Sun-Hee, Choi Ji-Young, Kim Chan-Duck, Kim Yong-Lim, Kim Un-Kyu |
| The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. Pediatric nephrology (Berlin, Germany) 2008 Dec 23 (12): 2201-7. Tonna Stephen, Wang Yan Yan, Wilson Diane, Rigby Lin, Tabone Tania, Cotton Richard, Savige Ju |
| Mutations in the COL4A4 gene in thin basement membrane disease. Kidney international 2003 Feb 63 (2): 447-53. Buzza Mark, Dagher Hayat, Wang Yan Yan, Wilson Diane, Babon Jeffrey J, Cotton Richard G, Savige Ju |
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- Page last updated:Jun 22, 2022
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