Benessy F - Search Results

1

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C. Saunier S, et al. Among authors: benessy f. Am J Hum Genet. 2000 Mar;66(3):778-89. doi: 10.1086/302819. Am J Hum Genet. 2000. PMID: 10712196 Free PMC article.

2

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.

Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C. Medhioub M, et al. Among authors: benessy f. Genomics. 1994 Jul 15;22(2):296-301. doi: 10.1006/geno.1994.1387. Genomics. 1994. PMID: 7806215

3

A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q.

Konrad M, Saunier S, Silbermann F, Benessy F, Le Paslier D, Weissenbach J, Broyer M, Gubler MC, Antignac C. Konrad M, et al. Among authors: benessy f. Genomics. 1995 Dec 10;30(3):514-20. doi: 10.1006/geno.1995.1272. Genomics. 1995. PMID: 8825638

4

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: benessy f. Hum Mol Genet. 1996 Mar;5(3):367-71. doi: 10.1093/hmg/5.3.367. Hum Mol Genet. 1996. PMID: 8852662

5

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: benessy f. Hum Mol Genet. 1997 Dec;6(13):2317-23. doi: 10.1093/hmg/6.13.2317. Hum Mol Genet. 1997. PMID: 9361039

6

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

Knebelmann B, Forestier L, Drouot L, Quinones S, Chuet C, Benessy F, Saus J, Antignac C. Knebelmann B, et al. Among authors: benessy f. Hum Mol Genet. 1995 Apr;4(4):675-9. doi: 10.1093/hmg/4.4.675. Hum Mol Genet. 1995. PMID: 7633417

7

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Among authors: benessy f. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755

8

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: benessy f. Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166. Nat Genet. 2000. PMID: 10742096

9

Podocin localizes in the kidney to the slit diaphragm area.

Roselli S, Gribouval O, Boute N, Sich M, Benessy F, Attié T, Gubler MC, Antignac C. Roselli S, et al. Among authors: benessy f. Am J Pathol. 2002 Jan;160(1):131-9. doi: 10.1016/S0002-9440(10)64357-X. Am J Pathol. 2002. PMID: 11786407 Free PMC article.

10

[Nephronophtisis in Senegal: first 3 cases].

Diouf B, Niang A, Ka MM, Ka EF, Diouf ML, Ba A, Droz D, Benessy F, Antignac C, Moreira Diop T, Bao O. Diouf B, et al. Among authors: benessy f. Nephrologie. 1997;18(7):299-302. Nephrologie. 1997. PMID: 9496571 French.

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