Martàsek P - Search Results

1

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

Rosipal R, Lamoril J, Puy H, Da Silva V, Gouya L, De Rooij FW, Te Velde K, Nordmann Y, Martàsek P, Deybach JC. Rosipal R, et al. Among authors: martasek p. Hum Mutat. 1999;13(1):44-53. doi: 10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q. Hum Mutat. 1999. PMID: 9888388

2

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

Lamoril J, Martasek P, Deybach JC, Da Silva V, Grandchamp B, Nordmann Y. Lamoril J, et al. Among authors: martasek p. Hum Mol Genet. 1995 Feb;4(2):275-8. doi: 10.1093/hmg/4.2.275. Hum Mol Genet. 1995. PMID: 7757079

3

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P. Zahorakova D, et al. Among authors: martasek p. J Hum Genet. 2007;52(4):342-348. doi: 10.1007/s10038-007-0121-x. Epub 2007 Feb 15. J Hum Genet. 2007. PMID: 17387578

4

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

Martasek P, Nordmann Y, Grandchamp B. Martasek P, et al. Hum Mol Genet. 1994 Mar;3(3):477-80. doi: 10.1093/hmg/3.3.477. Hum Mol Genet. 1994. PMID: 8012360

5

Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.

Rosipal R, Puy H, Lamoril J, Martasek P, Nordmann Y, Deybach JC. Rosipal R, et al. Among authors: martasek p. Scand J Clin Lab Invest. 1997 May;57(3):217-24. doi: 10.3109/00365519709060030. Scand J Clin Lab Invest. 1997. PMID: 9238757

6

Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.

Gross U, Puy H, Kühnel A, Meissauer U, Deybach JC, Jacob K, Martasek P, Nordmann Y, Doss MO. Gross U, et al. Among authors: martasek p. Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):49-55. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 11929047 Review.

7

May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.

Hrdinka M, Puy H, Martasek P. Hrdinka M, et al. Among authors: martasek p. Physiol Res. 2006;55 Suppl 2:S119-136. doi: 10.33549/physiolres.930000.55.S2.119. Physiol Res. 2006. PMID: 17298216 Free article. Review.

8

Molecular characterization of homozygous variegate porphyria.

Roberts AG, Puy H, Dailey TA, Morgan RR, Whatley SD, Dailey HA, Martasek P, Nordmann Y, Deybach JC, Elder GH. Roberts AG, et al. Among authors: martasek p. Hum Mol Genet. 1998 Nov;7(12):1921-5. doi: 10.1093/hmg/7.12.1921. Hum Mol Genet. 1998. PMID: 9811936

9

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ. Chen B, et al. Among authors: martasek p. Genet Med. 2019 Nov;21(11):2605-2613. doi: 10.1038/s41436-019-0537-7. Epub 2019 May 10. Genet Med. 2019. PMID: 31073229 Free PMC article.

10

[Analysis of the most frequent mutations in girls with Rett syndrome].

Rosipal R, Zeman J, Hadac J, Misovicová N, Nevsímalová S, Martásek P. Rosipal R, et al. Among authors: martasek p. Cas Lek Cesk. 2001 Aug 2;140(15):473-6. Cas Lek Cesk. 2001. PMID: 11569169 Czech.

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