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Page 1
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: gubler mc. 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, renal development, and glomerulopathies.
Gubler MC, Yang Y, Jeanpierre C, Barbaux S, Niaudet P. Gubler MC, et al. Adv Nephrol Necker Hosp. 1999;29:299-315. Adv Nephrol Necker Hosp. 1999. PMID: 10561752 Review. No abstract available.
Twin-to-twin transfusion syndrome. Role of the fetal renin-angiotensin system.
Mahieu-Caputo D, Dommergues M, Delezoide AL, Lacoste M, Cai Y, Narcy F, Jolly D, Gonzales M, Dumez Y, Gubler MC. Mahieu-Caputo D, et al. Among authors: gubler mc. Am J Pathol. 2000 Feb;156(2):629-36. doi: 10.1016/S0002-9440(10)64767-0. Am J Pathol. 2000. PMID: 10666392 Free PMC article.
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: gubler mc. Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467. Nat Genet. 1997. PMID: 9398852
[Genetics and nephrotic syndrome].
Niaudet P, Broyer M, Gubler MC, Jeanpierre C, Barbaux S, Antignac C. Niaudet P, et al. Among authors: gubler mc. Arch Pediatr. 1998;5 Suppl 2:152s-155s. Arch Pediatr. 1998. PMID: 9759244 Review. French. No abstract available.
Genetics of the nephrotic syndrome.
Salomon R, Gubler MC, Niaudet P. Salomon R, et al. Among authors: gubler mc. Curr Opin Pediatr. 2000 Apr;12(2):129-34. doi: 10.1097/00008480-200004000-00008. Curr Opin Pediatr. 2000. PMID: 10763762 Review.
PAX2 mutations in oligomeganephronia.
Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M. Salomon R, et al. Among authors: gubler mc. Kidney Int. 2001 Feb;59(2):457-62. doi: 10.1046/j.1523-1755.2001.059002457.x. Kidney Int. 2001. PMID: 11168927 Free article.
290 results