Gubler MC - Search Results

1

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

2

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C. Fuchshuber A, et al. Among authors: gubler mc. Hum Mol Genet. 1995 Nov;4(11):2155-8. doi: 10.1093/hmg/4.11.2155. Hum Mol Genet. 1995. PMID: 8589695

3

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.

Fuchshuber A, Niaudet P, Gribouval O, Jean G, Gubler MC, Broyer M, Antignac C. Fuchshuber A, et al. Among authors: gubler mc. Pediatr Nephrol. 1996 Apr;10(2):135-8. doi: 10.1007/BF00862052. Pediatr Nephrol. 1996. PMID: 8703694

4

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.

5

Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.

Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C. Gubler MC, et al. Kidney Int. 1995 Apr;47(4):1142-7. doi: 10.1038/ki.1995.163. Kidney Int. 1995. PMID: 7783412 Free article.

6

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ, et al. Mochizuki T, et al. Among authors: gubler mc. Nat Genet. 1994 Sep;8(1):77-81. doi: 10.1038/ng0994-77. Nat Genet. 1994. PMID: 7987396

7

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C. Konrad M, et al. Among authors: gubler mc. Hum Mol Genet. 1996 Mar;5(3):367-71. doi: 10.1093/hmg/5.3.367. Hum Mol Genet. 1996. PMID: 8852662

8

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C. Knebelmann B, et al. Among authors: gubler mc. Am J Hum Genet. 1996 Dec;59(6):1221-32. Am J Hum Genet. 1996. PMID: 8940267 Free PMC article.

9

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C. Saunier S, et al. Among authors: gubler mc. Hum Mol Genet. 1997 Dec;6(13):2317-23. doi: 10.1093/hmg/6.13.2317. Hum Mol Genet. 1997. PMID: 9361039

10

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

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