Silbermann F - Search Results

1

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

2

The renal inflammatory network of nephronophthisis.

Quatredeniers M, Bienaimé F, Ferri G, Isnard P, Porée E, Billot K, Birgy E, Mazloum M, Ceccarelli S, Silbermann F, Braeg S, Nguyen-Khoa T, Salomon R, Gubler MC, Kuehn EW, Saunier S, Viau A. Quatredeniers M, et al. Among authors: silbermann f. Hum Mol Genet. 2022 Jul 7;31(13):2121-2136. doi: 10.1093/hmg/ddac014. Hum Mol Genet. 2022. PMID: 35043953 Free article.

3

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: silbermann f. Genomics. 1994 Jul 15;22(2):296-301. doi: 10.1006/geno.1994.1387. Genomics. 1994. PMID: 7806215

4

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: silbermann f. Genomics. 1995 Dec 10;30(3):514-20. doi: 10.1006/geno.1995.1272. Genomics. 1995. PMID: 8825638

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

6

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: silbermann 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.

7

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. Mollet G, et al. Among authors: silbermann f. Nat Genet. 2002 Oct;32(2):300-5. doi: 10.1038/ng996. Epub 2002 Sep 9. Nat Genet. 2002. PMID: 12244321

8

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.

Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S. Mollet G, et al. Among authors: silbermann f. Hum Mol Genet. 2005 Mar 1;14(5):645-56. doi: 10.1093/hmg/ddi061. Epub 2005 Jan 20. Hum Mol Genet. 2005. PMID: 15661758

9

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.

Delous M, Hellman NE, Gaudé HM, Silbermann F, Le Bivic A, Salomon R, Antignac C, Saunier S. Delous M, et al. Among authors: silbermann f. Hum Mol Genet. 2009 Dec 15;18(24):4711-23. doi: 10.1093/hmg/ddp434. Epub 2009 Sep 14. Hum Mol Genet. 2009. PMID: 19755384 Free PMC article.

10

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.

Burcklé C, Gaudé HM, Vesque C, Silbermann F, Salomon R, Jeanpierre C, Antignac C, Saunier S, Schneider-Maunoury S. Burcklé C, et al. Among authors: silbermann f. Hum Mol Genet. 2011 Jul 1;20(13):2611-27. doi: 10.1093/hmg/ddr164. Epub 2011 Apr 15. Hum Mol Genet. 2011. PMID: 21498478

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