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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: cooper pr. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.
Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996.
Shows TB, Alders M, Bennett S, Burbee D, Cartwright P, Chandrasekharappa S, Cooper P, Courseaux A, Davies C, Devignes MD, Devilee P, Elliott R, Evans G, Fantes J, Garner H, Gaudray P, Gerhard DS, Gessler M, Higgins M, Hummerich H, James M, Lagercrantz J, Litt M, Little P, Zabel B, et al. Shows TB, et al. Cytogenet Cell Genet. 1996;74(1-2):1-56. doi: 10.1159/000134383. Cytogenet Cell Genet. 1996. PMID: 8893803 No abstract available.
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.
Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, Higgins MJ. Smilinich NJ, et al. Among authors: cooper pr. Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):8064-9. doi: 10.1073/pnas.96.14.8064. Proc Natl Acad Sci U S A. 1999. PMID: 10393948 Free PMC article.
304 results