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2004 2
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Page 1
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: guerra d. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-022-01013-2. Nat Genet. 2022. PMID: 35064218 Free article. No abstract available.
The De Barsy syndrome.
Guerra D, Fornieri C, Bacchelli B, Lugli L, Torelli P, Balli F, Ferrari P. Guerra D, et al. J Cutan Pathol. 2004 Oct;31(9):616-24. doi: 10.1111/j.0303-6987.2004.00241.x. J Cutan Pathol. 2004. PMID: 15330994
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: guerra d. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Nat Genet. 2009. PMID: 19648921
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E. Gardeitchik T, et al. Among authors: guerra d. Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963297 Free PMC article.
Parameters of oxidative stress are present in the circulation of PXE patients.
Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I. Garcia-Fernandez MI, et al. Among authors: guerra d. Biochim Biophys Acta. 2008 Jul-Aug;1782(7-8):474-81. doi: 10.1016/j.bbadis.2008.05.001. Epub 2008 May 10. Biochim Biophys Acta. 2008. PMID: 18513494 Free article.
15 results