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Results: 1 to 20 of 44

1.

Biological activities of phosphocitrate: a potential meniscal protective agent.

Sun Y, Roberts A, Mauerhan DR, Sun AR, Norton HJ, Hanley EN Jr.

Biomed Res Int. 2013;2013:726581. doi: 10.1155/2013/726581. Epub 2013 Jul 11.

PMID:
23936839
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC.

J Clin Endocrinol Metab. 2013 Oct;98(10):3932-8. doi: 10.1210/jc.2013-2491. Epub 2013 Aug 8.

PMID:
23928670
[PubMed - indexed for MEDLINE]
3.

Characteristics of children with non-hodgkin lymphoma associated with primary immune deficiency diseases: descriptions of five patients.

Emir S, Vezir E, Azkur D, Demir HA, Metin A.

Pediatr Hematol Oncol. 2013 Sep;30(6):544-53. doi: 10.3109/08880018.2013.792893. Epub 2013 May 7.

PMID:
23647505
[PubMed - indexed for MEDLINE]
4.

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.

Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C, Kabisch S, Engels H, Tierling S, Zivicnjak M, Schacherer F, Haffner D, Weber RG.

Hum Genet. 2013 Jul;132(7):825-41. doi: 10.1007/s00439-013-1296-1. Epub 2013 Apr 4.

PMID:
23552953
[PubMed - indexed for MEDLINE]
5.

Pigmentary lesions in patients with increased DNA damage due to defective DNA repair.

Krieger L, Berneburg M.

Ann Dermatol Venereol. 2012 Dec;139 Suppl 4:S130-4. doi: 10.1016/S0151-9638(12)70124-2. Review.

PMID:
23522627
[PubMed - indexed for MEDLINE]
6.

Proton beam therapy for malignancy in Bloom syndrome.

Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H.

Strahlenther Onkol. 2013 Apr;189(4):335-8. doi: 10.1007/s00066-012-0274-1. Epub 2013 Feb 28.

PMID:
23443610
[PubMed - indexed for MEDLINE]
7.

Recruitment of HRDC domain of WRN and BLM to the sites of DNA damage induced by mitomycin C and methyl methanesulfonate.

Samanta S, Karmakar P.

Cell Biol Int. 2012 Oct 1;36(10):873-81. doi: 10.1042/CBI20110510.

PMID:
22657828
[PubMed - indexed for MEDLINE]
8.

Recruitment and retention dynamics of RECQL5 at DNA double strand break sites.

Popuri V, Ramamoorthy M, Tadokoro T, Singh DK, Karmakar P, Croteau DL, Bohr VA.

DNA Repair (Amst). 2012 Jul 1;11(7):624-35. doi: 10.1016/j.dnarep.2012.05.001. Epub 2012 May 24.

PMID:
22633600
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Trex2 enables spontaneous sister chromatid exchanges without facilitating DNA double-strand break repair.

Dumitrache LC, Hu L, Son MY, Li H, Wesevich A, Scully R, Stark J, Hasty P.

Genetics. 2011 Aug;188(4):787-97. doi: 10.1534/genetics.111.129833. Epub 2011 May 5.

PMID:
21546543
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Bi-directional routing of DNA mismatch repair protein human exonuclease 1 to replication foci and DNA double strand breaks.

Liberti SE, Andersen SD, Wang J, May A, Miron S, Perderiset M, Keijzers G, Nielsen FC, Charbonnier JB, Bohr VA, Rasmussen LJ.

DNA Repair (Amst). 2011 Jan 2;10(1):73-86. doi: 10.1016/j.dnarep.2010.09.023. Epub 2010 Oct 20.

PMID:
20970388
[PubMed - indexed for MEDLINE]
11.

Progeroid syndromes and UV-induced oxidative DNA damage.

Kamenisch Y, Berneburg M.

J Investig Dermatol Symp Proc. 2009 Aug;14(1):8-14. doi: 10.1038/jidsymp.2009.6. Review.

PMID:
19675546
[PubMed - indexed for MEDLINE]
Free Article
12.

Chromosomal instability syndromes are sensitive to poly ADP-ribose polymerase inhibitors.

Gaymes TJ, Shall S, Farzaneh F, Mufti GJ.

Haematologica. 2008 Dec;93(12):1886-9. doi: 10.3324/haematol.13201. Epub 2008 Oct 6.

PMID:
18838476
[PubMed - indexed for MEDLINE]
Free Article
13.

Acquired genomic aberrations associated with methotrexate resistance vary with background genomic instability.

Snijders AM, Hermsen MA, Baughman J, Buffart TE, Huey B, Gajduskova P, Roydasgupta R, Tokuyasu T, Meijer GA, Fridlyand J, Albertson DG.

Genes Chromosomes Cancer. 2008 Jan;47(1):71-83.

PMID:
17943968
[PubMed - indexed for MEDLINE]
14.

Oxidative stress biomarkers in four Bloom syndrome (BS) patients and in their parents suggest in vivo redox abnormalities in BS phenotype.

Zatterale A, Kelly FJ, Degan P, d'Ischia M, Pallardó FV, Calzone R, Dunster C, Lloret A, Manini P, Coğulu O, Kavakli K, Pagano G.

Clin Biochem. 2007 Oct;40(15):1100-3. Epub 2007 Jun 30.

PMID:
17678887
[PubMed - indexed for MEDLINE]
15.

Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome.

Diaz A, Vogiatzi MG, Sanz MM, German J.

Horm Res. 2006;66(3):111-7. Epub 2006 Jun 9.

PMID:
16763388
[PubMed - indexed for MEDLINE]
16.

Enhanced gene targeting efficiency by siRNA that silences the expression of the Bloom syndrome gene in human cells.

So S, Nomura Y, Adachi N, Kobayashi Y, Hori T, Kurihara Y, Koyama H.

Genes Cells. 2006 Apr;11(4):363-71.

PMID:
16611240
[PubMed - indexed for MEDLINE]
17.

Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.

Wirtenberger M, Frank B, Hemminki K, Klaes R, Schmutzler RK, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B.

Carcinogenesis. 2006 Aug;27(8):1655-60. Epub 2006 Feb 25.

PMID:
16501249
[PubMed - indexed for MEDLINE]
Free Article
18.

Dominant negative effect of novel mutations in pyruvate kinase-M2.

Anitha M, Kaur G, Baquer NZ, Bamezai R.

DNA Cell Biol. 2004 Jul;23(7):442-9.

PMID:
15294093
[PubMed - indexed for MEDLINE]
19.

Homologous recombination and cell cycle checkpoints: Rad51 in tumour progression and therapy resistance.

Henning W, Stürzbecher HW.

Toxicology. 2003 Nov 15;193(1-2):91-109. Review.

PMID:
14599770
[PubMed - indexed for MEDLINE]
20.

Combined modality treatment for locally advanced squamous-cell carcinoma of the oropharynx in a woman with Bloom's syndrome: a case report and review of the literature.

Ma B, Corry J, Rischin D, Leong T, Peters LJ.

Ann Oncol. 2001 Jul;12(7):1015-7. Review.

PMID:
11521786
[PubMed - indexed for MEDLINE]
Free Article

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