Saunier S - Search Results

1

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. Delous M, et al. Among authors: saunier s. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558409

2

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

3

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

4

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

5

Familial juvenile nephronophthisis.

Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C. Konrad M, et al. Among authors: saunier s. J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. J Mol Med (Berl). 1998. PMID: 9587065 Review.

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. 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: saunier s. 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: saunier s. 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

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.

le Maire A, Weber T, Saunier S, Broutin I, Antignac C, Ducruix A, Dardel F. le Maire A, et al. Among authors: saunier s. Proteins. 2005 May 1;59(2):347-55. doi: 10.1002/prot.20344. Proteins. 2005. PMID: 15723349

10

Nephronophthisis.

Saunier S, Salomon R, Antignac C. Saunier S, et al. Curr Opin Genet Dev. 2005 Jun;15(3):324-31. doi: 10.1016/j.gde.2005.04.012. Curr Opin Genet Dev. 2005. PMID: 15917209 Review.

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