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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. Levran O, et al. Among authors: neveling k. Nat Genet. 2005 Sep;37(9):931-3. doi: 10.1038/ng1624. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116424
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.
Heinrich T, Prowald C, Friedl R, Gottwald B, Kalb R, Neveling K, Herterich S, Hoehn H, Schindler D. Heinrich T, et al. Among authors: neveling k. Eur J Pediatr. 2006 Apr;165(4):250-7. doi: 10.1007/s00431-005-0037-4. Epub 2006 Jan 13. Eur J Pediatr. 2006. PMID: 16411093
Fanconi anaemia - response to Manoharan.
Hanenberg H, Huck K, Gudowius S, Göbel U, Kobbe G, Haas R, Kalb R, Neveling K, Schindler D. Hanenberg H, et al. Among authors: neveling k. Br J Haematol. 2006 Oct;135(1):139-40. doi: 10.1111/j.1365-2141.2006.06263.x. Epub 2006 Aug 22. Br J Haematol. 2006. PMID: 16925571 Free article. No abstract available.
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.
Antonio Casado J, Callén E, Jacome A, Río P, Castella M, Lobitz S, Ferro T, Muñoz A, Sevilla J, Cantalejo A, Cela E, Cervera J, Sánchez-Calero J, Badell I, Estella J, Dasí A, Olivé T, José Ortega J, Rodriguez-Villa A, Tapia M, Molinés A, Madero L, Segovia JC, Neveling K, Kalb R, Schindler D, Hanenberg H, Surrallés J, Bueren JA. Antonio Casado J, et al. Among authors: neveling k. J Med Genet. 2007 Apr;44(4):241-9. doi: 10.1136/jmg.2006.044719. Epub 2006 Nov 14. J Med Genet. 2007. PMID: 17105750 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: neveling k. 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.
84 results