Cormier-Daire V - Search Results

1

Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients.

Dupre T, Ogier-Denis E, Moore SE, Cormier-Daire V, Dehoux M, Durand G, Seta N, Codogno P. Dupre T, et al. Biochim Biophys Acta. 1999 Mar 30;1453(3):369-77. doi: 10.1016/s0925-4439(99)00009-5. Biochim Biophys Acta. 1999. PMID: 10101255 Free article.

2

[Carbohydrate-deficient blood glycoprotein syndrome].

de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray JM, Seta N. de Lonlay P, et al. Arch Pediatr. 2000 Feb;7(2):173-84. doi: 10.1016/s0929-693x(00)88089-6. Arch Pediatr. 2000. PMID: 10701064 Review. French.

3

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. 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.

4

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. de Lonlay P, et al. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. J Med Genet. 2001. PMID: 11134235 Free PMC article.

5

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.

Dupre T, Cuer M, Barrot S, Barnier A, Cormier-Daire V, Munnich A, Durand G, Seta N. Dupre T, et al. Clin Chem. 2001 Jan;47(1):132-4. Clin Chem. 2001. PMID: 11148191 No abstract available.

6

Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.

Dupré T, Barnier A, de Lonlay P, Cormier-Daire V, Durand G, Codogno P, Seta N. Dupré T, et al. Glycobiology. 2000 Dec;10(12):1277-81. doi: 10.1093/glycob/10.12.1277. Glycobiology. 2000. PMID: 11159919

7

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N. Cormier-Daire V, et al. J Med Genet. 2000 Nov;37(11):875-7. doi: 10.1136/jmg.37.11.875. J Med Genet. 2000. PMID: 11228641 Free PMC article. Review. No abstract available.

8

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

Drouin-Garraud V, Belgrand M, Grünewald S, Seta N, Dacher JN, Hénocq A, Matthijs G, Cormier-Daire V, Frébourg T, Saugier-Veber P. Drouin-Garraud V, et al. Am J Med Genet. 2001 Jun 1;101(1):46-9. doi: 10.1002/ajmg.1298. Am J Med Genet. 2001. PMID: 11343337

9

Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.

Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, de Lonlay P, Matthijs G, Van Hulle C, Ponsot G, Seta N. Miossec-Chauvet E, et al. Neuropediatrics. 2003 Feb;34(1):1-6. doi: 10.1055/s-2003-38614. Neuropediatrics. 2003. PMID: 12690561

10

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.

Hertz-Pannier L, Déchaux M, Sinico M, Emond S, Cormier-Daire V, Saudubray JM, Brunelle F, Niaudet P, Seta N, de Lonlay P. Hertz-Pannier L, et al. Pediatr Radiol. 2006 Feb;36(2):108-14. doi: 10.1007/s00247-005-0001-5. Epub 2005 Nov 22. Pediatr Radiol. 2006. PMID: 16328327

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