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Items: 7

1.
Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria
Hongbo Xiao, Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2023 Mar 28.
Published in final edited form as: Pediatr Nephrol. 2022 Jul; 37(7): 1567–1574. Published online 2021 Nov 11. doi: 10.1007/s00467-021-05312-4
PMCID:
PMC10043783
AbstractArticlePDF–345K
2.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
David Schapiro, Ankana Daga, Jennifer A Lawson, Amar J Majmundar, Svjetlana Lovric, Weizhen Tan, Jillian K Warejko, Inés Fessi, Jia Rao, Merlin Airik, Heon Yung Gee, Ronen Schneider, Eugen Widmeier, Tobias Hermle, Shazia Ashraf, Tilman Jobst-Schwan, Amelie T van der Ven, Makiko Nakayama, Shirlee Shril, Daniela A Braun, Friedhelm Hildebrandt
Nephrol Dial Transplant. 2019 Mar; 34(3): 474–485. Published online 2018 Mar 21. doi: 10.1093/ndt/gfy050
PMCID:
PMC6399484
AbstractArticlePDF–289K
3.
Complement Dysregulation and Disease: Insights from Contemporary Genetics
M. Kathryn Liszewski, Anuja Java, Elizabeth C. Schramm, John P. Atkinson
Annu Rev Pathol. Author manuscript; available in PMC 2018 Jun 27.
Published in final edited form as: Annu Rev Pathol. 2017 Jan 24; 12: 25–52. Published online 2016 Dec 5. doi: 10.1146/annurev-pathol-012615-044145
PMCID:
PMC6020056
AbstractArticlePDF–782K
4.
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
Medicine (Baltimore) 2017 Oct; 96(43): e8284. Published online 2017 Oct 27. doi: 10.1097/MD.0000000000008284
PMCID:
PMC5671830
AbstractArticlePDF–799K
5.
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland
Vicky Brocklebank, Sally Johnson, Thomas P. Sheerin, Stephen D. Marks, Rodney D. Gilbert, Kay Tyerman, Meredith Kinoshita, Atif Awan, Amrit Kaur, Nicholas Webb, Shivaram Hegde, Eric Finlay, Maggie Fitzpatrick, Patrick R. Walsh, Edwin K.S. Wong, Caroline Booth, Larissa Kerecuk, Alan D. Salama, Mike Almond, Carol Inward, Timothy H. Goodship, Neil S. Sheerin, Kevin J. Marchbank, David Kavanagh
Kidney Int. 2017 Nov; 92(5): 1261–1271. doi: 10.1016/j.kint.2017.04.028
PMCID:
PMC5652378
AbstractArticlePDF–475K
6.
Genetics and Outcome of Atypical Hemolytic Uremic Syndrome: A Nationwide French Series Comparing Children and Adults
Véronique Fremeaux-Bacchi, Fadi Fakhouri, Arnaud Garnier, Frank Bienaimé, Marie-Agnès Dragon-Durey, Stéphanie Ngo, Bruno Moulin, Aude Servais, François Provot, Lionel Rostaing, Stéphane Burtey, Patrick Niaudet, Georges Deschênes, Yvon Lebranchu, Julien Zuber, Chantal Loirat
Clin J Am Soc Nephrol. 2013 Apr 5; 8(4): 554–562. Published online 2013 Jan 10. doi: 10.2215/CJN.04760512
PMCID:
PMC3613948
AbstractArticle
7.
Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype
Marina Noris, Jessica Caprioli, Elena Bresin, Chiara Mossali, Gaia Pianetti, Sara Gamba, Erica Daina, Chiara Fenili, Federica Castelletti, Annalisa Sorosina, Rossella Piras, Roberta Donadelli, Ramona Maranta, Irene van der Meer, Edward M. Conway, Peter F. Zipfel, Timothy H. Goodship, Giuseppe Remuzzi
Clin J Am Soc Nephrol. 2010 Oct; 5(10): 1844–1859. doi: 10.2215/CJN.02210310
PMCID:
PMC2974386
AbstractArticle

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