Rosipal R - 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. 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

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: rosipal r. 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

3

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. Scand J Clin Lab Invest. 1997 May;57(3):217-24. doi: 10.3109/00365519709060030. Scand J Clin Lab Invest. 1997. PMID: 9238757

4

Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.

Lamoril J, Puy H, Gouya L, Rosipal R, Da Silva V, Grandchamp B, Foint T, Bader-Meunier B, Dommergues JP, Deybach JC, Nordmann Y. Lamoril J, et al. Among authors: rosipal r. Blood. 1998 Feb 15;91(4):1453-7. Blood. 1998. PMID: 9454777 Free article.

5

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: rosipal r. Clin Chim Acta. 1999 Jan;279(1-2):133-43. doi: 10.1016/s0009-8981(98)00056-4. Clin Chim Acta. 1999. PMID: 10064125

6

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.

Puy H, Robréau AM, Rosipal R, Nordmann Y, Deybach JC. Puy H, et al. Among authors: rosipal r. Biochem Biophys Res Commun. 1996 Sep 4;226(1):226-30. doi: 10.1006/bbrc.1996.1337. Biochem Biophys Res Commun. 1996. PMID: 8806618

7

[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. Cas Lek Cesk. 2001 Aug 2;140(15):473-6. Cas Lek Cesk. 2001. PMID: 11569169 Czech.

8

[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia].

Honzík T, Malonová E, Hansíková H, Rosipal R, Poupĕtová H, Martásek P, Zeman J. Honzík T, et al. Among authors: rosipal r. Cas Lek Cesk. 2003;142(5):276-9. Cas Lek Cesk. 2003. PMID: 12920791 Czech.

9

Tensor decomposition of human narrowband oscillatory brain activity in frequency, space and time.

Rosipal R, Rošťáková Z, Trejo LJ. Rosipal R, et al. Biol Psychol. 2022 Mar;169:108287. doi: 10.1016/j.biopsycho.2022.108287. Epub 2022 Feb 7. Biol Psychol. 2022. PMID: 35143920

10

Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations.

De Grandi A, Franzini M, Rosipal Š, Rosipal R, Debreova M, Corti A, Ruetzler-Dichtl E, Scholl-Bürgi S, Paolicchi A, Pompella A, Emdin M, Zampa G, Witt H, Zoller H, Tilg H, Mayatepek E, Herebian D, Pramstaller PP, Müller T, Janecke AR. De Grandi A, et al. Among authors: rosipal r. Hepatology. 2020 Mar;71(3):1124-1127. doi: 10.1002/hep.30944. Epub 2019 Oct 28. Hepatology. 2020. PMID: 31520399 Free PMC article. No abstract available.

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