Nordmann Y - Search Results

1

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.

Tchernitchko D, Lamoril J, Puy H, Robreau AM, Bogard C, Rosipal R, Gouya L, Deybach JC, Nordmann Y. Tchernitchko D, et al. Among authors: nordmann y. Clin Chim Acta. 1999 Jan;279(1-2):133-43. doi: 10.1016/s0009-8981(98)00056-4. Clin Chim Acta. 1999. PMID: 10064125

2

Human hereditary hepatic porphyrias.

Nordmann Y, Puy H. Nordmann Y, et al. Clin Chim Acta. 2002 Nov;325(1-2):17-37. doi: 10.1016/s0009-8981(02)00276-0. Clin Chim Acta. 2002. PMID: 12367763 Review.

3

Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.

Bourgeois F, Gu XF, Deybach JC, Te Velde MP, de Rooij F, Nordmann Y, Grandchamp B. Bourgeois F, et al. Among authors: nordmann y. Clin Chem. 1992 Jan;38(1):93-5. Clin Chem. 1992. PMID: 1733614

4

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.

Da Silva V, Simonin S, Deybach JC, Puy H, Nordmann Y. Da Silva V, et al. Among authors: nordmann y. Clin Chim Acta. 1995 Jul 14;238(2):163-8. doi: 10.1016/0009-8981(95)06085-r. Clin Chim Acta. 1995. PMID: 7586575 Clinical Trial.

5

Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.

Puy H, Deybach JC, Baudry P, Callebert J, Touitou Y, Nordmann Y. Puy H, et al. Among authors: nordmann y. Life Sci. 1993;53(8):621-7. doi: 10.1016/0024-3205(93)90271-4. Life Sci. 1993. PMID: 8350677

6

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Nordmann Y. Puy H, et al. Among authors: nordmann y. Hum Hered. 1996 May-Jun;46(3):177-80. doi: 10.1159/000154349. Hum Hered. 1996. PMID: 8860014

7

Review: molecular pathogenesis of hepatic acute porphyrias.

Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y. Grandchamp B, et al. Among authors: nordmann y. J Gastroenterol Hepatol. 1996 Nov;11(11):1046-52. doi: 10.1111/j.1440-1746.1996.tb00035.x. J Gastroenterol Hepatol. 1996. PMID: 8985829 Review.

8

Acute intermittent porphyria: rapid molecular diagnosis.

Puy H, Aquaron R, Lamoril J, Robréau AM, Nordmann Y, Deybach JC. Puy H, et al. Among authors: nordmann y. Cell Mol Biol (Noisy-le-grand). 1997 Feb;43(1):37-45. Cell Mol Biol (Noisy-le-grand). 1997. PMID: 9074787

9

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y. Puy H, et al. Among authors: nordmann y. Am J Hum Genet. 1997 Jun;60(6):1373-83. doi: 10.1086/515455. Am J Hum Genet. 1997. PMID: 9199558 Free PMC article.

10

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.

Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau AM, Bonaiti C, Phung LN, Deybach JC. Nordmann Y, et al. J Intern Med. 1997 Sep;242(3):213-7. doi: 10.1046/j.1365-2796.1997.00189.x. J Intern Med. 1997. PMID: 9350165 Free article.

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