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Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Schärer K, Seyberth HW, Konrad M. Weber S, et al. Among authors: bonzel ke. J Am Soc Nephrol. 2001 Sep;12(9):1872-1881. doi: 10.1681/ASN.V1291872. J Am Soc Nephrol. 2001. PMID: 11518780
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M. Weber S, et al. Among authors: bonzel ke. Eur J Hum Genet. 2000 Jun;8(6):414-22. doi: 10.1038/sj.ejhg.5200475. Eur J Hum Genet. 2000. PMID: 10878661
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children.
Azukaitis K, Ju W, Kirchner M, Nair V, Smith M, Fang Z, Thurn-Valsassina D, Bayazit A, Niemirska A, Canpolat N, Bulut IK, Yalcinkaya F, Paripovic D, Harambat J, Cakar N, Alpay H, Lugani F, Mencarelli F, Civilibal M, Erdogan H, Gellermann J, Vidal E, Tabel Y, Gimpel C, Ertan P, Yavascan O, Melk A, Querfeld U, Wühl E, Kretzler M, Schaefer F; 4C Study; ESCAPE Trial Group. Azukaitis K, et al. Kidney Int. 2019 Jul;96(1):214-221. doi: 10.1016/j.kint.2019.01.035. Epub 2019 Mar 20. Kidney Int. 2019. PMID: 31005273 Free article.
Estimating Time to ESRD in Children With CKD.
Furth SL, Pierce C, Hui WF, White CA, Wong CS, Schaefer F, Wühl E, Abraham AG, Warady BA; Chronic Kidney Disease in Children (CKiD); Effect of Strict Blood Pressure Control and ACE Inhibition on the Progression of CRF in Pediatric Patients (ESCAPE) Study Investigators. Furth SL, et al. Am J Kidney Dis. 2018 Jun;71(6):783-792. doi: 10.1053/j.ajkd.2017.12.011. Epub 2018 Apr 10. Am J Kidney Dis. 2018. PMID: 29653769 Free PMC article.
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