Rüfenacht UB - Search Results

1

Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients.

Rüfenacht UB, Schneider-Yin X, Schäfer BW, Taketani S, Deybach JC, Minder EI. Rüfenacht UB, et al. Clin Chem Lab Med. 1998 Oct;36(10):763-5. doi: 10.1515/CCLM.1998.135. Clin Chem Lab Med. 1998. PMID: 9853802

2

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

Schneider-Yin X, Gouya L, Dorsey M, Rüfenacht U, Deybach JC, Ferreira GC. Schneider-Yin X, et al. Blood. 2000 Aug 15;96(4):1545-9. Blood. 2000. PMID: 10942404 Free article.

3

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Rüfenacht UB, Gouya L, Schneider-Yin X, Puy H, Schäfer BW, Aquaron R, Nordmann Y, Minder EI, Deybach JC. Rüfenacht UB, et al. Am J Hum Genet. 1998 Jun;62(6):1341-52. doi: 10.1086/301870. Am J Hum Genet. 1998. PMID: 9585598 Free PMC article.

4

Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.

Schneider-Yin X, Bogard C, Rüfenacht UB, Puy H, Nordmann Y, Minder EI, Deybach J. Schneider-Yin X, et al. Among authors: rufenacht ub. Hum Hered. 2000 Jul-Aug;50(4):247-50. doi: 10.1159/000022924. Hum Hered. 2000. PMID: 10782018

5

New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.

Rüfenacht UB, Gregor A, Gouya L, Tarczynska-Nosal S, Schneider-Yin X, Deybach JC. Rüfenacht UB, et al. Clin Chem. 2001 Jun;47(6):1112-3. Clin Chem. 2001. PMID: 11375302 No abstract available.

6

Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.

Schneider-Yin X, Rüfenacht UB, Hergersberg M, Schnyder C, Deybach JC, Minder EI. Schneider-Yin X, et al. Among authors: rufenacht ub. J Invest Dermatol. 2001 Dec;117(6):1521-5. doi: 10.1046/j.0022-202x.2001.01604.x. J Invest Dermatol. 2001. PMID: 11886517 Free article.

7

Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.

Schneider-Yin X, Hergersberg M, Goldgar DE, Rüfenacht UB, Schuurmans MM, Puy H, Deybach JC, Minder EI. Schneider-Yin X, et al. Among authors: rufenacht ub. Hum Hered. 2002;54(2):69-81. doi: 10.1159/000067665. Hum Hered. 2002. PMID: 12566739

8

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

Gouya L, Schneider-Yin X, Rüfenacht U, Herrero C, Lecha M, Mascaro JM, Puy H, Deybach JC, Minder EI. Gouya L, et al. J Invest Dermatol. 1998 Sep;111(3):406-9. doi: 10.1046/j.1523-1747.1998.00327.x. J Invest Dermatol. 1998. PMID: 9740232 Free article.

9

Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.

Schuurmans MM, Schneider-Yin X, Rüfenacht UB, Schnyder C, Minder CE, Puy H, Deybach JC, Minder EI. Schuurmans MM, et al. Among authors: rufenacht ub. Mol Med. 2001 Aug;7(8):535-42. Mol Med. 2001. PMID: 11591889 Free PMC article.

10

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

Gregor A, Schneider-Yin X, Szlendak U, Wettstein A, Lipniacka A, Rüfenacht UB, Minder EI. Gregor A, et al. Among authors: rufenacht ub. Hum Mutat. 2002 Mar;19(3):310. doi: 10.1002/humu.9020. Hum Mutat. 2002. PMID: 11857754

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