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Page 1
Fanconi anaemia research: current status and prospects.
Joenje H, Mathew C, Gluckman E. Joenje H, et al. Among authors: gluckman e. Eur J Cancer. 1995;31A(2):268-72. doi: 10.1016/0959-8049(94)00485-n. Eur J Cancer. 1995. PMID: 7718336 Review.
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwert F, Joenje H. Lo Ten Foe JR, et al. Among authors: gluckman e. Eur J Hum Genet. 1997 May-Jun;5(3):137-48. Eur J Hum Genet. 1997. PMID: 9272737
Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway.
Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, Esperou H, Ferry C, Jubert C, Feugeas JP, Henri A, Toubert A, Socié G, Baruchel A, Sigaux F, D'Andrea AD, Gluckman E. Soulier J, et al. Among authors: gluckman e. Blood. 2005 Feb 1;105(3):1329-36. doi: 10.1182/blood-2004-05-1852. Epub 2004 Sep 21. Blood. 2005. PMID: 15383454 Free article.
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Xia B, et al. Among authors: gluckman e. Nat Genet. 2007 Feb;39(2):159-61. doi: 10.1038/ng1942. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200672
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D. Kalb R, et al. Among authors: gluckman e. Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6. Am J Hum Genet. 2007. PMID: 17436244 Free PMC article.
804 results