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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C. Boute N, et al. Among authors: gubler mc. Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166. Nat Genet. 2000. PMID: 10742096
A missense mutation in podocin leads to early and severe renal disease in mice.
Philippe A, Weber S, Esquivel EL, Houbron C, Hamard G, Ratelade J, Kriz W, Schaefer F, Gubler MC, Antignac C. Philippe A, et al. Among authors: gubler mc. Kidney Int. 2008 May;73(9):1038-47. doi: 10.1038/ki.2008.27. Epub 2008 Feb 20. Kidney Int. 2008. PMID: 18288100
[Prenatal diagnosis of autosomal recessive polycystic kidney disease].
Gagnadoux MF, Attié T, Amiel J, Gigarel N, Bonnefont JP, Munnich A, Gubler MC, Antignac C. Gagnadoux MF, et al. Among authors: gubler mc. Arch Pediatr. 2000 Sep;7(9):942-7. doi: 10.1016/s0929-693x(00)90007-1. Arch Pediatr. 2000. PMID: 11028201 French.
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
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T. Amiel J, et al. Among authors: gubler mc. Eur J Hum Genet. 2000 Nov;8(11):820-6. doi: 10.1038/sj.ejhg.5200539. Eur J Hum Genet. 2000. PMID: 11093271
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.
Denamur E, Bocquet N, Baudouin V, Da Silva F, Veitia R, Peuchmaur M, Elion J, Gubler MC, Fellous M, Niaudet P, Loirat C. Denamur E, et al. Among authors: gubler mc. Kidney Int. 2000 May;57(5):1868-72. doi: 10.1046/j.1523-1755.2000.00036.x. Kidney Int. 2000. PMID: 10792605
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.
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C. Konrad M, et al. Among authors: gubler mc. J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. J Mol Med (Berl). 1998. PMID: 9587065 Review.
[Congenital or childhood nephrotic syndrome with diffuse mesangial sclerosis].
Habib R, Gubler MC, Antignac C, Loirat C, Gangnadoux MF. Habib R, et al. Among authors: gubler mc. Ann Pediatr (Paris). 1990 Feb;37(2):73-7. Ann Pediatr (Paris). 1990. PMID: 2157355 Review. French.
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C. Boye E, et al. Among authors: gubler mc. Am J Hum Genet. 1998 Nov;63(5):1329-40. doi: 10.1086/302106. Am J Hum Genet. 1998. PMID: 9792860 Free PMC article.
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