Forestier L - Search Results

1

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: forestier l. Hum Mol Genet. 1995 Apr;4(4):675-9. doi: 10.1093/hmg/4.4.675. Hum Mol Genet. 1995. PMID: 7633417

2

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: forestier l. Am J Hum Genet. 1996 Dec;59(6):1221-32. Am J Hum Genet. 1996. PMID: 8940267 Free PMC article.

3

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C. Boye E, et al. Among authors: forestier l. Am J Hum Genet. 1998 Nov;63(5):1329-40. doi: 10.1086/302106. Am J Hum Genet. 1998. PMID: 9792860 Free PMC article.

4

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C. Heidet L, et al. Among authors: forestier l. J Am Soc Nephrol. 2001 Jan;12(1):97-106. doi: 10.1681/ASN.V12197. J Am Soc Nephrol. 2001. PMID: 11134255

5

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, Broyer M, Town M, Antignac C. Forestier L, et al. Am J Hum Genet. 1999 Aug;65(2):353-9. doi: 10.1086/302509. Am J Hum Genet. 1999. PMID: 10417278 Free PMC article.

6

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C. Vargas-Poussou R, et al. Among authors: forestier l. J Am Soc Nephrol. 1997 Dec;8(12):1855-62. doi: 10.1681/ASN.V8121855. J Am Soc Nephrol. 1997. PMID: 9402087

7

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.

Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C. Vargas-Poussou R, et al. Among authors: forestier l. Adv Exp Med Biol. 1998;449:387-90. doi: 10.1007/978-1-4615-4871-3_49. Adv Exp Med Biol. 1998. PMID: 10026829 No abstract available.

8

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M. Attard M, et al. Among authors: forestier l. Hum Mol Genet. 1999 Dec;8(13):2507-14. doi: 10.1093/hmg/8.13.2507. Hum Mol Genet. 1999. PMID: 10556299

9

Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.

Cruz-Robles D, García-Torres R, Antignac C, Forestier L, de la Puente SG, Correa-Rotter R, Garcia-López E, Orozco L. Cruz-Robles D, et al. Among authors: forestier l. Clin Genet. 1999 Sep;56(3):242-3. doi: 10.1034/j.1399-0004.1999.560312.x. Clin Genet. 1999. PMID: 10563487 No abstract available.

10

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.

Cherqui S, Kalatzis V, Forestier L, Poras I, Antignac C. Cherqui S, et al. Among authors: forestier l. BMC Genomics. 2000;1:2. doi: 10.1186/1471-2164-1-2. Epub 2000 Dec 6. BMC Genomics. 2000. PMID: 11121245 Free PMC article.

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