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Select item 67674081.

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically

Aya Imafuku, Kandai Nozu, Naoki Sawa, Eiko Hasegawa, Rikako Hiramatsu, Masahiro Kawada, Junichi Hoshino, Kiho Tanaka, Yasuo Ishii, Kenmei Takaichi, Takeshi Fujii, Kenichi Ohashi, Kazumoto Iijima, Yoshifumi Ubara

Nephrology (Carlton) 2018 Oct; 23(10): 940–947. Published online 2018 Sep 24. doi: 10.1111/nep.13115

PMCID:: PMC6767408

Abstract Article PDF–3.0M

Select item 21162232.

Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere

J Cell Biol. 1990 Oct 1; 111(4): 1685–1699. doi: 10.1083/jcb.111.4.1685

PMCID:: PMC2116223

Summary PDF–4.8M

Select item 69653893.

Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5

Rong Xiang, Jing-Jing Li, Ji-Shi Liu, Liang-Liang Fan, Lin Li, Kun Xia, Hao Zhang

Int J Clin Exp Pathol. 2017; 10(8): 8709–8714. Published online 2017 Aug 1.

PMCID:: PMC6965389

Abstract Article PDF–423K

Select item 69498184.

A novel mutation in a Chinese family with autosomal recessive Alport syndrome: a case report

Huili Sun, Xuewen Yu, Shunmin Li, Hua Xu, Jun Yang, Tiegang Yi, Pengxun Han, Mumin Shao

Int J Clin Exp Pathol. 2019; 12(9): 3565–3569. Published online 2019 Sep 1.

PMCID:: PMC6949818

Abstract Article PDF–763K

Select item 66253655.

Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome

Shunlai Shang, Fei Peng, Tao Wang, Xiaoyuan Wu, Ping Li, Qinggang Li, Xiang M. Chen

Mol Genet Genomic Med. 2019 Jul; 7(7): e00741. Published online 2019 May 29. doi: 10.1002/mgg3.741

PMCID:: PMC6625365

Abstract Article PDF–1.1M

Select item 63918206.

Non-collagen genes role in digenic Alport syndrome

S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri, A. M. Pinto

BMC Nephrol. 2019; 20: 70. Published online 2019 Feb 26. doi: 10.1186/s12882-019-1258-5

PMCID:: PMC6391820

Abstract Article PDF–712K

Select item 63601587.

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS)

Feng Zhu, Wencheng Li, Zhenqiong Li, Hongyan Zhu, Jing Xiong

Front Genet. 2018; 9: 748. Published online 2019 Jan 28. doi: 10.3389/fgene.2018.00748

PMCID:: PMC6360158

Abstract Article PDF–3.6M

Select item 59478528.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study

Sneh Lata, Maddalena Marasa, Yifu Li, David A. Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M. Slater, Vivette D’Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A. Newton, Maya K. Rao, Jai Radhakrishan, Wooin Ahn, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Corinne Antignac, Glen S. Markowitz, Christine K. Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G. Gharavi

Ann Intern Med. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: Ann Intern Med. 2018 Jan 16; 168(2): 100–109. Published online 2017 Dec 5. doi: 10.7326/M17-1319

Correction in:: Ann Intern Med. 2018 Feb 20; 168(4): 308.

PMCID:: PMC5947852

Abstract Article PDF–364K

Select item 57405579.

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem

J Med Genet. 2017 Dec; 54(12): 795–804. Published online 2017 Aug 5. doi: 10.1136/jmedgenet-2017-104811

PMCID:: PMC5740557

Abstract Article PDF–810K

Select item 566457910.

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene

C. Cervera-Acedo, A. Coloma, E. Huarte-Loza, M. Sierra-Carpio, E. Domínguez-Garrido

BMC Nephrol. 2017; 18: 325. Published online 2017 Oct 31. doi: 10.1186/s12882-017-0735-y

PMCID:: PMC5664579

Abstract Article PDF–825K

Select item 529787011.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970

PMCID:: PMC5297870

Abstract Article PDF–172K

Select item 501832412.

Role of MSX1 in Osteogenic Differentiation of Human Dental Pulp Stem Cells

Noriko Goto, Katsumi Fujimoto, Sakiko Fujii, Hiroko Ida-Yonemochi, Hayato Ohshima, Takeshi Kawamoto, Mitsuhide Noshiro, Chisa Shukunami, Katsuyuki Kozai, Yukio Kato

Stem Cells Int. 2016; 2016: 8035759. Published online 2016 Aug 28. doi: 10.1155/2016/8035759

PMCID:: PMC5018324

Abstract Article PDF–1.7M

Select item 467628113.

Kaposi’s Sarcoma-Associated Herpesvirus Interleukin-6 Modulates Endothelial Cell Movement by Upregulating Cellular Genes Involved in Migration

Louise Giffin, John A. West, Blossom Damania

mBio. 2015 Nov-Dec; 6(6): e01499-15. Published online 2015 Dec 8. doi: 10.1128/mBio.01499-15

PMCID:: PMC4676281

Abstract Article PDF–2.3M

Select item 442759914.

Electrospun nanofibrous SF/P(LLA-CL) membrane: a potential substratum for endothelial keratoplasty

Junzhao Chen, Chenxi Yan, Mengyu Zhu, Qinke Yao, Chunyi Shao, Wenjuan Lu, Jing Wang, Xiumei Mo, Ping Gu, Yao Fu, Xianqun Fan

Int J Nanomedicine. 2015; 10: 3337–3350. Published online 2015 May 5. doi: 10.2147/IJN.S77706

PMCID:: PMC4427599

Abstract Article PDF–6.9M

Select item 424334315.

Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Said Lebbah, Alexandra Topa, Christine Bole-Feysot, Solenn Pruvost, Patrick Nitschke, Emmanuelle Plaisier, Bertrand Knebelmann, Marie-Alice Macher, Laure-Hélène Noel, Marie-Claire Gubler, Corinne Antignac, Laurence Heidet

J Am Soc Nephrol. 2014 Dec; 25(12): 2740–2751. Published online 2014 May 22. doi: 10.1681/ASN.2013080912

PMCID:: PMC4243343

Abstract Article

Select item 323452116.

Advances in Alport syndrome diagnosis using next-generation sequencing

Rosangela Artuso, Chiara Fallerini, Laura Dosa, Francesca Scionti, Maurizio Clementi, Guido Garosi, Laura Massella, Maria Carmela Epistolato, Roberta Mancini, Francesca Mari, Ilaria Longo, Francesca Ariani, Alessandra Renieri, Mirella Bruttini

Eur J Hum Genet. 2012 Jan; 20(1): 50–57. Published online 2011 Sep 7. doi: 10.1038/ejhg.2011.164

PMCID:: PMC3234521

Abstract Article PDF–637K

Select item 321019417.

Gene expression profiling in the Cynomolgus macaque Macaca fascicularis shows variation within the normal birth range

Bright Starling Emerald, Keefe Chng, Shinya Masuda, Deborah M Sloboda, Mark H Vickers, Ravi Kambadur, Peter D Gluckman

BMC Genomics. 2011; 12: 509. Published online 2011 Oct 16. doi: 10.1186/1471-2164-12-509

PMCID:: PMC3210194

Abstract Article PDF–986K

Select item 271070718.

Screening for Mutations in Kidney-Related Genes Using SURVEYOR Nuclease for Cleavage at Heteroduplex Mismatches

Konstantinos Voskarides, Constantinos Deltas

J Mol Diagn. 2009 Jul; 11(4): 311–318. doi: 10.2353/jmoldx.2009.080144

PMCID:: PMC2710707

Abstract Article PDF–582K

Select item 266271619.

A Human Breast Cell Model of Preinvasive to Invasive Transition

Aylin Rizki, Valerie M. Weaver, Sun-Young Lee, Gabriela I. Rozenberg, Koei Chin, Connie A. Myers, Jamie L. Bascom, Joni D. Mott, Jeremy R. Semeiks, Leslie R. Grate, I. Saira Mian, Alexander D. Borowsky, Roy A. Jensen, Michael O. Idowu, Fanqing Chen, David J. Chen, Ole W. Petersen, Joe W. Gray, Mina J. Bissell

Cancer Res. Author manuscript; available in PMC 2009 Mar 30.

Published in final edited form as: Cancer Res. 2008 Mar 1; 68(5): 1378–1387. doi: 10.1158/0008-5472.CAN-07-2225

PMCID:: PMC2662716

Abstract Article PDF–1.7M

Select item 186054320.

Expression profiling and prediction of distant metastases in head and neck squamous cell carcinoma

B J M Braakhuis, A Senft, R de Bree, J de Vries, B Ylstra, J Cloos, D J Kuik, C R Leemans, R H Brakenhoff

J Clin Pathol. 2006 Dec; 59(12): 1254–1260. Published online 2006 May 5. doi: 10.1136/jcp.2005.035451

PMCID:: PMC1860543

Abstract Article PDF–731K

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