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REFERENCES Kamenisch Y, Berneburg M. Progeroid syndromes and UV-induced oxidative DNA damage. J Investig Dermatol Symp Proc 2009; 14:8. Bloom Syndrome Registry. file://weill.cornell.edu/bsr/ (Accessed on February 26, 2012). Shahrabani-Gargir L, Shomrat R, Yaron Y, et al. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. Genet Test 1998; 2:293. Li L, Eng C, Desnick RJ, et al. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 1998; 64:286. Roa BB, Savino CV, Richards CS. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test 1999; 3:219. German J, Sanz MM, Ciocci S, et al. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat 2007; 28:743. German J. Bloom syndrome: a mendelian prototype of somatic mutational disease. Medicine (Baltimore) 1993; 72:393. Ellis NA, German J. Molecular genetics of Bloom's syndrome. Hum Mol Genet 1996; 5 Spec No:1457. Amor-Guéret M, Dubois-d'Enghien C, Laugé A, et al. Three new BLM gene mutations associated with Bloom syndrome. Genet Test 2008; 12:257. Ellis NA, Groden J, Ye TZ, et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995; 83:655. Killen MW, Stults DM, Adachi N, et al. Loss of Bloom syndrome protein destabilizes human gene cluster architecture. Hum Mol Genet 2009; 18:3417. Chan KL, Palmai-Pallag T, Ying S, Hickson ID. Replication stress induces sister-chromatid bridging at fragile site loci in mitosis. Nat Cell Biol 2009; 11:753. Naim V, Rosselli F. The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities. Nat Cell Biol 2009; 11:761. Payne M, Hickson ID. Genomic instability and cancer: lessons from analysis of Bloom's syndrome. Biochem Soc Trans 2009; 37:553. Bachrati CZ, Hickson ID. Dissolution of double Holliday junctions by the concerted action of BLM and topoisomerase IIIalpha. Methods Mol Biol 2009; 582:91. Wechsler T, Newman S, West SC. Aberrant chromosome morphology in human cells defective for Holliday junction resolution. Nature 2011; 471:642. Tikoo S, Sengupta S. Time to bloom. Genome Integr 2010; 1:14. Russell B, Bhattacharyya S, Keirsey J, et al. Chromosome breakage is regulated by the interaction of the BLM helicase and topoisomerase IIalpha. Cancer Res 2011; 71:561.

Wechsler T, Newman S, West SC. Aberrant chromosome morphology in human cells defective for Holliday junction resolution. Nature 2011; 471:642. Tikoo S, Sengupta S. Time to bloom. Genome Integr 2010; 1:14. Russell B, Bhattacharyya S, Keirsey J, et al. Chromosome breakage is regulated by the interaction of the BLM helicase and topoisomerase IIalpha. Cancer Res 2011; 71:561. Wang Y, Smith K, Waldman BC, Waldman AS. Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. DNA Repair (Amst) 2011; 10:416. GeneReviews: Bloom's syndrome. file://www.ncbi.nlm.nih.gov/books/NBK1398/ (Accessed on October 14, 2011). Karalis A, Tischkowitz M, Millington GW. Dermatological manifestations of inherited cancer syndromes in children. Br J Dermatol 2011; 164:245. Diaz A, Vogiatzi MG, Sanz MM, German J. Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome. Horm Res 2006; 66:111. McGowan J, Maize J, Cook J. Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. Am J Dermatopathol 2009; 31:786. German J. The immunodeficiency of Bloom syndrome. In: Primary immunodeficiency diseases: A molecular and genetic approach, Ochs HD, Smith CIE, Puck JM (Eds), Oxford University Press, New York 1999. p.335. German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 1997; 93:100. Baris HN, Kedar I, Halpern GJ, et al. Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. Isr Med Assoc J 2007; 9:847. Martin RH, Rademaker A, German J. Chromosomal breakage in human spermatozoa, a heterozygous effect of the Bloom syndrome mutation. Am J Hum Genet 1994; 55:1242. Taniguchi N, Mukai M, Nagaoki T, et al. Impaired B-cell differentiation and T-cell regulatory function in four patients with Bloom's syndrome. Clin Immunol Immunopathol 1982; 22:247. Van Kerckhove CW, Ceuppens JL, Vanderschueren-Lodeweyckx M, et al. Bloom's syndrome. Clinical features and immunologic abnormalities of four patients. Am J Dis Child 1988; 142:1089. Gene Test. www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/2709?db=genetests (Accessed on April 05, 2010). Thomas ER, Shanley S, Walker L, Eeles R. Surveillance and treatment of malignancy in Bloom syndrome. Clin Oncol (R Coll Radiol) 2008; 20:375.

Van Kerckhove CW, Ceuppens JL, Vanderschueren-Lodeweyckx M, et al. Bloom's syndrome. Clinical features and immunologic abnormalities of four patients. Am J Dis Child 1988; 142:1089. Gene Test. www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/2709?db=genetests (Accessed on April 05, 2010). Thomas ER, Shanley S, Walker L, Eeles R. Surveillance and treatment of malignancy in Bloom syndrome. Clin Oncol (R Coll Radiol) 2008; 20:375. Topic 3959 Version 4.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.4 - C21.36 Licensed to: Southeast Alabama Med Ctr | Support Tag: [0604-61.234.146.186-617C8121F3-S244013.14]