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Page 1
Nijmegen breakage syndrome.
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. van der Burgt I, et al. J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. J Med Genet. 1996. PMID: 8929954 Free PMC article. Review.
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A. Varon R, et al. Among authors: weemaes cm. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.
Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.
Wijmenga C, van den Heuvel LP, Strengman E, Luyten JA, van der Burgt IJ, de Groot R, Smeets DF, Draaisma JM, van Dongen JJ, De Abreu RA, Pearson PL, Sandkuijl LA, Weemaes CM. Wijmenga C, et al. Among authors: weemaes cm. Am J Hum Genet. 1998 Sep;63(3):803-9. doi: 10.1086/302021. Am J Hum Genet. 1998. PMID: 9718351 Free PMC article.
Ataxia-telangiectasia: linkage evidence for genetic heterogeneity.
Sobel E, Lange E, Jaspers NG, Chessa L, Sanal O, Shiloh Y, Taylor AM, Weemaes CM, Lange K, Gatti RA. Sobel E, et al. Among authors: weemaes cm. Am J Hum Genet. 1992 Jun;50(6):1343-8. Am J Hum Genet. 1992. PMID: 1598915 Free PMC article. No abstract available.
Nijmegen Breakage syndrome: a progress report.
Weemaes CM, Smeets DF, van der Burgt CJ. Weemaes CM, et al. Int J Radiat Biol. 1994 Dec;66(6 Suppl):S185-8. Int J Radiat Biol. 1994. PMID: 7836846 Review.
ICF syndrome: a new case and review of the literature.
Smeets DF, Moog U, Weemaes CM, Vaes-Peeters G, Merkx GF, Niehof JP, Hamers G. Smeets DF, et al. Among authors: weemaes cm. Hum Genet. 1994 Sep;94(3):240-6. doi: 10.1007/BF00208277. Hum Genet. 1994. PMID: 8076938 Review.
Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
Hiel JA, Weemaes CM, van Engelen BG, Smeets D, Ligtenberg M, van Der Burgt I, van Den Heuvel LP, Cerosaletti KM, Gabreëls FJ, Concannon P. Hiel JA, et al. Among authors: weemaes cm. J Med Genet. 2001 Jun;38(6):E19. doi: 10.1136/jmg.38.6.e19. J Med Genet. 2001. PMID: 11389166 Free PMC article. No abstract available.
156 results