Durand G - Search Results

1

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.

Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N. Bouchet C, et al. Among authors: durand g. Mol Genet Metab. 2007 Jan;90(1):93-6. doi: 10.1016/j.ymgme.2006.09.005. Epub 2006 Oct 31. Mol Genet Metab. 2007. PMID: 17079174

2

A new insight into PMM2 mutations in the French population.

Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupré T, Durand G, Seta N. Le Bizec C, et al. Among authors: durand g. Hum Mutat. 2005 May;25(5):504-5. doi: 10.1002/humu.9336. Hum Mutat. 2005. PMID: 15844218

3

PMM2 intronic branch-site mutations in CDG-Ia.

Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupré T, Durand G, Seta N. Vuillaumier-Barrot S, et al. Among authors: durand g. Mol Genet Metab. 2006 Apr;87(4):337-40. doi: 10.1016/j.ymgme.2005.10.015. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16376131

4

The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.

Vuillaumier-Barrot S, Le Bizec C, Durand G, Seta N. Vuillaumier-Barrot S, et al. Among authors: durand g. J Hum Genet. 2001;46(9):547-8. doi: 10.1007/s100380170038. J Hum Genet. 2001. PMID: 11558905

5

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.

Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Among authors: durand g. J Med Genet. 2000 Aug;37(8):579-80. doi: 10.1136/jmg.37.8.579. J Med Genet. 2000. PMID: 10922383 Free PMC article.

6

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Among authors: durand g. Hum Mutat. 1999 Dec;14(6):543-4. doi: 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S. Hum Mutat. 1999. PMID: 10571956

7

Identification of a IVS4-58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene.

Vuillaumier-Barrot S, Bizec CL, Durand G, Grandchamp B, Seta N. Vuillaumier-Barrot S, et al. Among authors: durand g. Hum Mutat. 2000 May;15(5):486. doi: 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU24>3.0.CO;2-V. Hum Mutat. 2000. PMID: 10790224 No abstract available.

8

Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring.

Durand G, Seta N. Durand G, et al. Clin Chem. 2000 Jun;46(6 Pt 1):795-805. Clin Chem. 2000. PMID: 10839767 Review.

9

[Congenital disorders of glycosylation].

Durand G, Dupré T, Vuillaumier-Barrot S, Seta N. Durand G, et al. Ann Pharm Fr. 2003;61(5):330-9. Ann Pharm Fr. 2003. PMID: 13130291 Review. French.

10

Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia.

Barnier A, Dupré T, Cuer M, Vuillaumier-Barrot S, Durand G, Seta N. Barnier A, et al. Among authors: durand g. Clin Chem. 2002 Jun;48(6 Pt 1):934-6. Clin Chem. 2002. PMID: 12029011 No abstract available.

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