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Page 1
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).
Renkema KY, Winyard PJ, Skovorodkin IN, Levtchenko E, Hindryckx A, Jeanpierre C, Weber S, Salomon R, Antignac C, Vainio S, Schedl A, Schaefer F, Knoers NV, Bongers EM; EUCAKUT consortium. Renkema KY, et al. Among authors: antignac c. Nephrol Dial Transplant. 2011 Dec;26(12):3843-51. doi: 10.1093/ndt/gfr655. Nephrol Dial Transplant. 2011. PMID: 22121240 Review.
Nephronophthisis.
Saunier S, Salomon R, Antignac C. Saunier S, et al. Among authors: antignac c. Curr Opin Genet Dev. 2005 Jun;15(3):324-31. doi: 10.1016/j.gde.2005.04.012. Curr Opin Genet Dev. 2005. PMID: 15917209 Review.
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
Schönfelder EM, Knüppel T, Tasic V, Miljkovic P, Konrad M, Wühl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group. Schönfelder EM, et al. Among authors: antignac c. Am J Kidney Dis. 2006 Jun;47(6):1004-12. doi: 10.1053/j.ajkd.2006.02.177. Am J Kidney Dis. 2006. PMID: 16731295
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Weber S, et al. Among authors: antignac c. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. doi: 10.1681/ASN.2006030277. Epub 2006 Sep 13. J Am Soc Nephrol. 2006. PMID: 16971658
SIX2 and BMP4 mutations associate with anomalous kidney development.
Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine RD. Weber S, et al. Among authors: antignac c. J Am Soc Nephrol. 2008 May;19(5):891-903. doi: 10.1681/ASN.2006111282. Epub 2008 Feb 27. J Am Soc Nephrol. 2008. PMID: 18305125 Free PMC article.
EUNEFRON, the European Network for the Study of Orphan Nephropathies.
Devuyst O, Meij I, Jeunemaitre X, Ronco P, Antignac C, Christensen EI, Knoers NV, Levtchenko EN, Deen PM, Müller D, Wagner CA, Rampoldi L, van't Hoff WG; EUNEFRON consortium. Devuyst O, et al. Among authors: antignac c. Nephrol Dial Transplant. 2009 Jul;24(7):2011-5. doi: 10.1093/ndt/gfp095. Epub 2009 Mar 4. Nephrol Dial Transplant. 2009. PMID: 19264741 Free article. No abstract available.
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.
Tabatabaeifar M, Schlingmann KP, Litwin M, Emre S, Bakkaloglu A, Mehls O, Antignac C, Schaefer F, Weber S; ESCAPE Trial Group. Tabatabaeifar M, et al. Among authors: antignac c. Pediatr Nephrol. 2009 Dec;24(12):2361-8. doi: 10.1007/s00467-009-1287-6. Epub 2009 Aug 14. Pediatr Nephrol. 2009. PMID: 19685083
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, Nitschke P, Tores F, Heidet L, Antignac C, Salomon R; Société Française de Foetopathologie. Jeanpierre C, et al. Among authors: antignac c. J Med Genet. 2011 Jul;48(7):497-504. doi: 10.1136/jmg.2010.088526. Epub 2011 Apr 13. J Med Genet. 2011. PMID: 21490379 Free article.
318 results