Cerosaletti KM - Search Results

1

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P. O'Driscoll M, et al. Among authors: cerosaletti km. Mol Cell. 2001 Dec;8(6):1175-85. doi: 10.1016/s1097-2765(01)00408-7. Mol Cell. 2001. PMID: 11779494 Free article.

2

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: cerosaletti km. Cell. 1998 May 1;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. Cell. 1998. PMID: 9590180 Free article.

3

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.

Cerosaletti KM, Lange E, Stringham HM, Weemaes CM, Smeets D, Sölder B, Belohradsky BH, Taylor AM, Karnes P, Elliott A, Komatsu K, Gatti RA, Boehnke M, Concannon P. Cerosaletti KM, et al. Am J Hum Genet. 1998 Jul;63(1):125-34. doi: 10.1086/301927. Am J Hum Genet. 1998. PMID: 9634525 Free PMC article.

4

Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation.

Cerosaletti KM, Desai-Mehta A, Yeo TC, Kraakman-Van Der Zwet M, Zdzienicka MZ, Concannon P. Cerosaletti KM, et al. Mutagenesis. 2000 May;15(3):281-6. doi: 10.1093/mutage/15.3.281. Mutagenesis. 2000. PMID: 10792024

5

ATM-dependent phosphorylation of nibrin in response to radiation exposure.

Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K. Gatei M, et al. Among authors: cerosaletti km. Nat Genet. 2000 May;25(1):115-9. doi: 10.1038/75508. Nat Genet. 2000. PMID: 10802669

6

Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.

Desai-Mehta A, Cerosaletti KM, Concannon P. Desai-Mehta A, et al. Among authors: cerosaletti km. Mol Cell Biol. 2001 Mar;21(6):2184-91. doi: 10.1128/MCB.21.6.2184-2191.2001. Mol Cell Biol. 2001. PMID: 11238951 Free PMC article.

7

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: cerosaletti km. 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.

8

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.

Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina I, Evgrafov O, Tverskaya S, Cerosaletti KM, Gatti RA, Concannon P. Resnick IB, et al. Among authors: cerosaletti km. J Pediatr. 2002 Mar;140(3):355-61. doi: 10.1067/mpd.2002.122724. J Pediatr. 2002. PMID: 11953735

9

Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.

Cerosaletti KM, Morrison VA, Sabath DE, Willerford DM, Concannon P. Cerosaletti KM, et al. Genes Chromosomes Cancer. 2002 Nov;35(3):282-6. doi: 10.1002/gcc.10114. Genes Chromosomes Cancer. 2002. PMID: 12353271

10

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.

Bakhshi S, Cerosaletti KM, Concannon P, Bawle EV, Fontanesi J, Gatti RA, Bhambhani K. Bakhshi S, et al. Among authors: cerosaletti km. J Pediatr Hematol Oncol. 2003 Mar;25(3):248-51. doi: 10.1097/00043426-200303000-00013. J Pediatr Hematol Oncol. 2003. PMID: 12621246

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