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Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1).
Ebo DG, Blaumeiser B, Kooy FR, Beckers S, Van Gasse AL, Saerens M, Spinhoven M, Sabato V, Poirel HA. Ebo DG, et al. Among authors: poirel ha. J Allergy Clin Immunol Pract. 2019 Apr;7(4):1352-1354.e3. doi: 10.1016/j.jaip.2018.10.005. Epub 2018 Oct 16. J Allergy Clin Immunol Pract. 2019. PMID: 30336291 No abstract available.
Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism.
Ebo DG, Van Gasse AL, Sabato V, Bartholomeus E, Reyniers E, Vanbellinghen JF, Poirel HA, Mortier G. Ebo DG, et al. Among authors: poirel ha. J Allergy Clin Immunol Pract. 2018 Jan-Feb;6(1):277-279.e1. doi: 10.1016/j.jaip.2017.07.002. Epub 2017 Sep 6. J Allergy Clin Immunol Pract. 2018. PMID: 28888847 No abstract available.
Non-Hodgkin Lymphoma in Children and Adolescents: Progress Through Effective Collaboration, Current Knowledge, and Challenges Ahead.
Minard-Colin V, Brugières L, Reiter A, Cairo MS, Gross TG, Woessmann W, Burkhardt B, Sandlund JT, Williams D, Pillon M, Horibe K, Auperin A, Le Deley MC, Zimmerman M, Perkins SL, Raphael M, Lamant L, Klapper W, Mussolin L, Poirel HA, Macintyre E, Damm-Welk C, Rosolen A, Patte C. Minard-Colin V, et al. Among authors: poirel ha. J Clin Oncol. 2015 Sep 20;33(27):2963-74. doi: 10.1200/JCO.2014.59.5827. Epub 2015 Aug 24. J Clin Oncol. 2015. PMID: 26304908 Free PMC article. Review.
The mutator pathway is a feature of immunodeficiency-related lymphomas.
Duval A, Raphael M, Brennetot C, Poirel H, Buhard O, Aubry A, Martin A, Krimi A, Leblond V, Gabarre J, Davi F, Charlotte F, Berger F, Gaidano G, Capello D, Canioni D, Bordessoule D, Feuillard J, Gaulard P, Delfau MH, Ferlicot S, Eclache V, Prevot S, Guettier C, Lefevre PC, Adotti F, Hamelin R. Duval A, et al. Proc Natl Acad Sci U S A. 2004 Apr 6;101(14):5002-7. doi: 10.1073/pnas.0400945101. Epub 2004 Mar 26. Proc Natl Acad Sci U S A. 2004. PMID: 15047891 Free PMC article.
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: poirel ha. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
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