de Verneuil H - Search Results

1

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C. Fontanellas A, et al. Among authors: de verneuil h. Eur J Hum Genet. 1996;4(5):274-82. doi: 10.1159/000472214. Eur J Hum Genet. 1996. PMID: 8946173

2

Identification of two new mutations in congenital erythropoietic porphyria.

Bensidhoum M, Ged C, Hombrados I, Moreau-Gaudry F, Hift RS, Meissner P, Sturrock ED, de Verneuil H. Bensidhoum M, et al. Among authors: de verneuil h. Eur J Hum Genet. 1995;3(2):102-7. doi: 10.1159/000472283. Eur J Hum Genet. 1995. PMID: 7552139

3

A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.

Tanigawa K, Bensidhoum M, Takamura N, Namba H, Yamashita S, de Verneuil H, Ged C. Tanigawa K, et al. Among authors: de verneuil h. Hum Genet. 1996 May;97(5):557-60. doi: 10.1007/BF02281859. Hum Genet. 1996. PMID: 8655129

4

Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.

Robert-Richard E, Moreau-Gaudry F, Lalanne M, Lamrissi-Garcia I, Cario-André M, Guyonnet-Dupérat V, Taine L, Ged C, de Verneuil H. Robert-Richard E, et al. Among authors: de verneuil h. Am J Hum Genet. 2008 Jan;82(1):113-24. doi: 10.1016/j.ajhg.2007.09.007. Am J Hum Genet. 2008. PMID: 18179890 Free PMC article.

5

Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.

Blouin JM, Bernardo-Seisdedos G, Sasso E, Esteve J, Ged C, Lalanne M, Sanz-Parra A, Urquiza P, de Verneuil H, Millet O, Richard E. Blouin JM, et al. Among authors: de verneuil h. Hum Mol Genet. 2017 Apr 15;26(8):1565-1576. doi: 10.1093/hmg/ddx067. Hum Mol Genet. 2017. PMID: 28334762

6

[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure].

de Verneuil H, Moreau-Gaudry F, Ged C, Bensidhoum M, Hombrados I, Tricoire J, Rolland M. de Verneuil H, et al. Arch Pediatr. 1995 Aug;2(8):755-61. doi: 10.1016/0929-693x(96)81246-2. Arch Pediatr. 1995. PMID: 7550841 French.

7

Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transfer.

Moreau-Gaudry F, Ged C, Barbot C, Mazurier F, Boiron JM, Bensidhoum M, Reiffers J, de Verneuil H. Moreau-Gaudry F, et al. Among authors: de verneuil h. Hum Gene Ther. 1995 Jan;6(1):13-20. doi: 10.1089/hum.1995.6.1-13. Hum Gene Ther. 1995. PMID: 7703283

8

The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse chromosome 7.

Bensidhoum M, Ged CM, Poirier C, Guénet JL, de Verneuil H. Bensidhoum M, et al. Among authors: de verneuil h. Mamm Genome. 1994 Nov;5(11):728-30. doi: 10.1007/BF00426082. Mamm Genome. 1994. PMID: 7873885 No abstract available.

9

Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B-cell lines.

Moreau-Gaudry F, Mazurier F, Bensidhoum M, Ged C, de Verneuil H. Moreau-Gaudry F, et al. Among authors: de verneuil h. Blood. 1995 Mar 15;85(6):1449-53. Blood. 1995. PMID: 7888667 Free article.

10

Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taïeb A, Topi G, D'Alessandro L, de Verneuil H. Moran-Jimenez MJ, et al. Among authors: de verneuil h. Am J Hum Genet. 1996 Apr;58(4):712-21. Am J Hum Genet. 1996. PMID: 8644733 Free PMC article.

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