Saunier S - Search Results

1

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Perrault I, et al. Among authors: saunier s. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. Am J Hum Genet. 2012. PMID: 22503633 Free PMC article.

2

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

3

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

4

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.

5

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.

6

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

7

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

8

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

9

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.

10

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Among authors: saunier s. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

99 results

Search Page

Filters