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21 results
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Clinical management of breast cancer heterogeneity.
Zardavas D, Irrthum A, Swanton C, Piccart M. Zardavas D, et al. Among authors: irrthum a. Nat Rev Clin Oncol. 2015 Jul;12(7):381-94. doi: 10.1038/nrclinonc.2015.73. Epub 2015 Apr 21. Nat Rev Clin Oncol. 2015. PMID: 25895611 Review.
The AURORA pilot study for molecular screening of patients with advanced breast cancer-a study of the breast international group.
Maetens M, Brown D, Irrthum A, Aftimos P, Viale G, Loibl S, Laes JF, Campbell PJ, Thompson A, Cortes J, Seiler S, Vinnicombe S, Oliveira M, Rothé F, Bareche Y, Fumagalli D, Zardavas D, Desmedt C, Piccart M, Loi S, Sotiriou C. Maetens M, et al. Among authors: irrthum a. NPJ Breast Cancer. 2017 Jun 29;3:23. doi: 10.1038/s41523-017-0026-6. eCollection 2017. NPJ Breast Cancer. 2017. PMID: 28685159 Free PMC article.
The AURORA initiative for metastatic breast cancer.
Zardavas D, Maetens M, Irrthum A, Goulioti T, Engelen K, Fumagalli D, Salgado R, Aftimos P, Saini KS, Sotiriou C, Campbell P, Dinh P, von Minckwitz G, Gelber RD, Dowsett M, Di Leo A, Cameron D, Baselga J, Gnant M, Goldhirsch A, Norton L, Piccart M. Zardavas D, et al. Among authors: irrthum a. Br J Cancer. 2014 Nov 11;111(10):1881-7. doi: 10.1038/bjc.2014.341. Epub 2014 Sep 16. Br J Cancer. 2014. PMID: 25225904 Free PMC article. Review.
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: irrthum a. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: irrthum a. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M. Wouters V, et al. Among authors: irrthum a. Eur J Hum Genet. 2010 Apr;18(4):414-20. doi: 10.1038/ejhg.2009.193. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888299 Free PMC article.
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.
Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, Cole TR, Fitzpatrick D, Gillerot Y, Hughes HE, Pilz D, Raymond FL, Temple IK, Irrthum A, Schouten JP, Rahman N. Douglas J, et al. Among authors: irrthum a. J Med Genet. 2005 Sep;42(9):e56. doi: 10.1136/jmg.2005.031930. J Med Genet. 2005. PMID: 16140999 Free PMC article.
21 results