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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.
[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.
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
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.
290 results