Varon R - 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: varon r. Mol Cell. 2001 Dec;8(6):1175-85. doi: 10.1016/s1097-2765(01)00408-7. Mol Cell. 2001. PMID: 11779494 Free article.

2

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

Alderton GK, Joenje H, Varon R, Børglum AD, Jeggo PA, O'Driscoll M. Alderton GK, et al. Among authors: varon r. Hum Mol Genet. 2004 Dec 15;13(24):3127-38. doi: 10.1093/hmg/ddh335. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496423

3

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

4

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.

Gruhn B, Seidel J, Zintl F, Varon R, Tönnies H, Neitzel H, Bechtold A, Hoehn H, Schindler D. Gruhn B, et al. Among authors: varon r. Orphanet J Rare Dis. 2007 Jan 15;2:5. doi: 10.1186/1750-1172-2-5. Orphanet J Rare Dis. 2007. PMID: 17224058 Free PMC article.

5

No evidence for deletions of the NBS1 gene in lymphomas.

Stumm M, von Ruskowsky A, Siebert R, Harder S, Varon R, Wieacker P, Schlegelberger B. Stumm M, et al. Among authors: varon r. Cancer Genet Cytogenet. 2001 Apr 1;126(1):60-2. doi: 10.1016/s0165-4608(00)00390-3. Cancer Genet Cytogenet. 2001. PMID: 11343781

6

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Krüger L, Demuth I, Neitzel H, Varon R, Sperling K, Chrzanowska KH, Seemanova E, Digweed M. Krüger L, et al. Among authors: varon r. Carcinogenesis. 2007 Jan;28(1):107-11. doi: 10.1093/carcin/bgl126. Epub 2006 Jul 13. Carcinogenesis. 2007. PMID: 16840438

7

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M. Seemanová E, et al. Among authors: varon r. J Med Genet. 2006 Mar;43(3):218-24. doi: 10.1136/jmg.2005.035287. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033915 Free PMC article.

8

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

Muschke P, Gola H, Varon R, Röpke A, Zumkeller W, Wieacker P, Stumm M. Muschke P, et al. Among authors: varon r. Prenat Diagn. 2004 Feb;24(2):111-3. doi: 10.1002/pd.803. Prenat Diagn. 2004. PMID: 14974117

9

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dörk T. Waltes R, et al. Among authors: varon r. Am J Hum Genet. 2009 May;84(5):605-16. doi: 10.1016/j.ajhg.2009.04.010. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409520 Free PMC article.

10

Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting.

Neubauer S, Arutyunyan R, Stumm M, Dörk T, Bendix R, Bremer M, Varon R, Sauer R, Gebhart E. Neubauer S, et al. Among authors: varon r. Radiat Res. 2002 Mar;157(3):312-21. doi: 10.1667/0033-7587(2002)157[0312:roatan]2.0.co;2. Radiat Res. 2002. PMID: 11839094

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