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389 results

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Page 1
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.
Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J. Callén E, et al. Among authors: de winter j. Blood. 2005 Mar 1;105(5):1946-9. doi: 10.1182/blood-2004-07-2588. Epub 2004 Nov 2. Blood. 2005. PMID: 15522956 Free article.
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.
Levitus M, Rooimans MA, Steltenpool J, Cool NF, Oostra AB, Mathew CG, Hoatlin ME, Waisfisz Q, Arwert F, de Winter JP, Joenje H. Levitus M, et al. Among authors: de winter jp. Blood. 2004 Apr 1;103(7):2498-503. doi: 10.1182/blood-2003-08-2915. Epub 2003 Nov 20. Blood. 2004. PMID: 14630800 Free article.
The Fanconi anemia pathway of genomic maintenance.
Levitus M, Joenje H, de Winter JP. Levitus M, et al. Cell Oncol. 2006;28(1-2):3-29. doi: 10.1155/2006/974975. Cell Oncol. 2006. PMID: 16675878 Free PMC article. Review.
Evidence for subcomplexes in the Fanconi anemia pathway.
Medhurst AL, Laghmani el H, Steltenpool J, Ferrer M, Fontaine C, de Groot J, Rooimans MA, Scheper RJ, Meetei AR, Wang W, Joenje H, de Winter JP. Medhurst AL, et al. Among authors: de groot j, de winter jp. Blood. 2006 Sep 15;108(6):2072-80. doi: 10.1182/blood-2005-11-008151. Epub 2006 May 23. Blood. 2006. PMID: 16720839 Free PMC article.
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: de winter jp. 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.
The genetic and molecular basis of Fanconi anemia.
de Winter JP, Joenje H. de Winter JP, et al. Mutat Res. 2009 Jul 31;668(1-2):11-9. doi: 10.1016/j.mrfmmm.2008.11.004. Epub 2008 Nov 14. Mutat Res. 2009. PMID: 19061902 Review.
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J. Bogliolo M, et al. Among authors: de winter jp. Am J Hum Genet. 2013 May 2;92(5):800-6. doi: 10.1016/j.ajhg.2013.04.002. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623386 Free PMC article.
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG. Faivre L, et al. Among authors: de winter j, de ravel t. Blood. 2000 Dec 15;96(13):4064-70. Blood. 2000. PMID: 11110674 Free article.
Identification of the Fanconi anemia complementation group I gene, FANCI.
Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H. Dorsman JC, et al. Among authors: de winter jp. Cell Oncol. 2007;29(3):211-8. doi: 10.1155/2007/151968. Cell Oncol. 2007. PMID: 17452773 Free PMC article.
389 results