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Items: 10

Select item 76110241.

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations

Fucheng Li, Zhihui Yue, Tingting Xu, Minghui Chen, Liangying Zhong, Ting Liu, Xiangyi Jing, Jia Deng, Bin Hu, Yuling Liu, Haiyan Wang, Kar N. Lai, Liangzhong Sun, Jinsong Liu, Patrick H. Maxwell, Yiming Wang

J Pediatr. Author manuscript; available in PMC 2021 Jun 21.

Published in final edited form as: J Pediatr. 2016 Jul 1; 174: 204–210.e1. Published online 2016 May 9. doi: 10.1016/j.jpeds.2016.04.007

PMCID:: PMC7611024

Abstract Article PDF–836K

Select item 51420662.

Glomerular Pathology in Dent Disease and Its Association with Kidney Function

Xiangling Wang, Franca Anglani, Lada Beara-Lasic, Anila J. Mehta, Lisa E. Vaughan, Loren Herrera Hernandez, Andrea Cogal, Steven J. Scheinman, Gema Ariceta, Robert Isom, Lawrence Copelovitch, Felicity T. Enders, Dorella Del Prete, Giuseppe Vezzoli, Fabio Paglialonga, Peter C. Harris, John C. Lieske

Clin J Am Soc Nephrol. 2016 Dec 7; 11(12): 2168–2176. Published online 2016 Oct 3. doi: 10.2215/CJN.03710416

PMCID:: PMC5142066

Abstract Article

Select item 41380593.

Hereditary Causes of Kidney Stones and Chronic Kidney Disease

Vidar O. Edvardsson, David S. Goldfarb, John C. Lieske, Lada Beara-Lasic, Franca Anglani, Dawn S. Milliner, Runolfur Palsson

Pediatr Nephrol. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Pediatr Nephrol. 2013 Oct; 28(10): 1923–1942. Published online 2013 Jan 20. doi: 10.1007/s00467-012-2329-z

PMCID:: PMC4138059

Abstract Article PDF–496K

Select item 38179074.

A Patient with Nephrotic-Range Proteinuria and Focal Global Glomerulosclerosis

Fernando C. Fervenza

Clin J Am Soc Nephrol. 2013 Nov 7; 8(11): 1979–1987. Published online 2013 Jul 25. doi: 10.2215/CJN.03400313

PMCID:: PMC3817907

Abstract Article

Select item 29646175.

Dent's disease

Olivier Devuyst, Rajesh V Thakker

Orphanet J Rare Dis. 2010; 5: 28. Published online 2010 Oct 14. doi: 10.1186/1750-1172-5-28

PMCID:: PMC2964617

Abstract Article PDF–591K

Select item 28917286.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci, Lihadh Al-Gazali, R Sean Hill, Dian Donnai, Graeme C M Black, Eric Bieth, Nicolas Chassaing, Didier Lacombe, Koen Devriendt, Ahmad Teebi, Maria Loscertales, Caroline Robson, Tianming Liu, David T MacLaughlin, Kristin M Noonan, Meaghan K Russell, Christopher A Walsh, Patricia K Donahoe, Barbara R Pober

Nat Genet. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Nat Genet. 2007 Aug; 39(8): 957–959. Published online 2007 Jul 15. doi: 10.1038/ng2063

PMCID:: PMC2891728

Abstract Article PDF–624K

Select item 28822347.

A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis

Barbara R. Pober, Mauro Longoni, Kristin M. Noonan

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2010 Jun 8.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2009 Jan; 85(1): 76–81. doi: 10.1002/bdra.20534

PMCID:: PMC2882234

Abstract Article PDF–58K

Select item 26438618.

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure

Andrew J. Smith, Anita A. C. Reed, Nellie Y. Loh, Rajesh V. Thakker, Jonathan D. Lippiat

Am J Physiol Renal Physiol. 2009 Feb; 296(2): F390–F397. Published online 2008 Nov 19. doi: 10.1152/ajprenal.90526.2008

PMCID:: PMC2643861

Abstract Article

Select item 11822899.

Lowe Syndrome Protein OCRL1 Interacts with Clathrin and Regulates Protein Trafficking between Endosomes and the Trans-Golgi Network

Rawshan Choudhury, Aipo Diao, Fang Zhang, Evan Eisenberg, Agnes Saint-Pol, Catrin Williams, Athanasios Konstantakopoulos, John Lucocq, Ludger Johannes, Catherine Rabouille, Lois E. Greene, Martin Lowe

Mol Biol Cell. 2005 Aug; 16(8): 3467–3479. doi: 10.1091/mbc.E05-02-0120