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Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cécille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C. Jeanpierre C, et al. Among authors: niaudet p. Am J Hum Genet. 1998 Apr;62(4):824-33. doi: 10.1086/301806. Am J Hum Genet. 1998. PMID: 9529364 Free PMC article.
WT1 and glomerular diseases.
Niaudet P, Gubler MC. Niaudet P, et al. Pediatr Nephrol. 2006 Nov;21(11):1653-60. doi: 10.1007/s00467-006-0208-1. Epub 2006 Aug 23. Pediatr Nephrol. 2006. PMID: 16927106 Review.
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K. Barbaux S, et al. Among authors: niaudet p. Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467. Nat Genet. 1997. PMID: 9398852
WT1, renal development, and glomerulopathies.
Gubler MC, Yang Y, Jeanpierre C, Barbaux S, Niaudet P. Gubler MC, et al. Among authors: niaudet p. Adv Nephrol Necker Hosp. 1999;29:299-315. Adv Nephrol Necker Hosp. 1999. PMID: 10561752 Review. No abstract available.
Genetics of the nephrotic syndrome.
Salomon R, Gubler MC, Niaudet P. Salomon R, et al. Among authors: niaudet p. Curr Opin Pediatr. 2000 Apr;12(2):129-34. doi: 10.1097/00008480-200004000-00008. Curr Opin Pediatr. 2000. PMID: 10763762 Review.
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C. Machuca E, et al. Among authors: niaudet p. J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27. J Am Soc Nephrol. 2010. PMID: 20507940 Free PMC article.
341 results