Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. AMA Am J Dis Child. 1954 Dec. 88(6):754-8. [Medline].
Straughen J, Ciocci S, Ye TZ, et al. Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. Genomics. 1996 Jul 1. 35(1):118-28. [Medline].
Park CJ, Ko J, Ryu KS, Choi BS. Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. J Biomol NMR. 2014 Feb. 58(2):141-7. [Medline].
Kim SY, Hakoshima T, Kitano K. Structure of the RecQ C-terminal domain of human Bloom syndrome protein. Sci Rep. 2013 Nov 21. 3:3294. [Medline].
Salah GB, Salem IH, Masmoudi A, Rhouma BB, Turki H, Fakhfakh F, et al. Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. J Eur Acad Dermatol Venereol. 2014 Oct. 28(10):1318-23. [Medline].
Payne M, Hickson ID. Genomic instability and cancer: lessons from analysis of Bloom's syndrome. Biochem Soc Trans. 2009 Jun. 37:553-9. [Medline].
Seki M, Nakagawa T, Seki T, et al. Bloom helicase and DNA topoisomerase IIIalpha are involved in the dissolution of sister chromatids. Mol Cell Biol. 2006 Aug. 26(16):6299-307. [Medline].
LaRocque JR, Stark JM, Oh J, Bojilova E, Yusa K, Horie K, et al. Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. Proc Natl Acad Sci U S A. 2011 Jul 19. 108(29):11971-6. [Medline]. [Full Text].
Aguilera A, Gómez-González B. Genome instability: a mechanistic view of its causes and consequences. Nat Rev Genet. 2008 Mar. 9 (3):204-17. [Medline].
Risch N, Tang H, Katzenstein H, Ekstein J. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet. 2003 Apr. 72(4):812-22. [Medline]. [Full Text].
Nicotera TM, Notaro J, Notaro S, Schumer J, Sandberg AA. Elevated superoxide dismutase in Bloom's syndrome: a genetic condition of oxidative stress. Cancer Res. 1989 Oct 1. 49(19):5239-43. [Medline].
Deans AJ, West SC. FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. Mol Cell. 2009 Dec 25. 36(6):943-53. [Medline].
Guo R, Xu D, Wang W. Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome. Methods. 2009 May. 48(1):72-9. [Medline]. [Full Text].
Bugreev DV, Mazina OM, Mazin AV. Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. J Biol Chem. 2009 Sep 25. 284(39):26349-59. [Medline]. [Full Text].
Zbinden I, Cerutti P. Near-ultraviolet sensitivity of skin fibroblasts of patients with Bloom's syndrome. Biochem Biophys Res Commun. 1981 Feb 12. 98(3):579-87. [Medline].
Lehmann AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PH, de Weerd-Kastelein EA, et al. Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci U S A. 1975 Jan. 72(1):219-23. [Medline]. [Full Text].
Hütteroth TH, Litwin SD, German J. Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. J Clin Invest. 1975 Jul. 56(1):1-7. [Medline]. [Full Text].
Garcia AM, Salomon RN, Witsell A, Liepkalns J, Calder RB, Lee M, et al. Loss of the Bloom Syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. Genome Biol. 2011 Dec 19. 12(12):R121. [Medline].
Li L, Eng C, Desnick RJ, German J, Ellis NA. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab. 1998 Aug. 64(4):286-90. [Medline].
Weill Cornell Medical College, Bloom’s Syndrome Registry. A Concise Clinical Description of Bloom’s Syndrome. Available at http://weill.cornell.edu/bsr/clinical_description/. 2009; Accessed: February 16, 2017.
Kaneko H, Inoue R, Fukao T, Kasahara K, Tashita H, Teramoto T, et al. Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma. Leuk Lymphoma. 1997 Nov. 27(5-6):539-42. [Medline].
Keller C, Keller KR, Shew SB, Plon SE. Growth deficiency and malnutrition in Bloom syndrome. J Pediatr. 1999 Apr. 134 (4):472-9. [Medline].
Passarge E. Bloom’s syndrome. German J, ed. Chromosome Mutation and Neoplasia. New York, NY: Alan R. Liss; 1983. 11–21.
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 (3):111-7. [Medline].
Chavez-Alvarez S, Villarreal-Martinez A, Velasco-Campos MDR, Moreno-Vega I, Martinez-de-Villarreal LE, Herz-Ruelas M, et al. Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge. Indian J Dermatol Venereol Leprol. 2019 Jan-Feb. 85 (1):130. [Medline].
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, et al. Bloom syndrome. Int J Dermatol. 2014 Jul. 53 (7):798-802. [Medline].
Jian-Bing W, Cheng-Rang L, Yi-Ping M, Nan S, Hui L, Lin L. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. Cutis. 2016 Feb. 97 (2):E10-3. [Medline].
Vojtková J, Čiljaková M, Jeseňák M, Mišovicová N, Bánovčin P. Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. Int J Dermatol. 2015 Sep 4. [Medline].
Vojtková J, Čiljaková M, Jeseňák M, Mišovicová N, Bánovčin P. Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. Int J Dermatol. 2016 Jun. 55 (6):687-690. [Medline].
Masmoudi A, Marrakchi S, Kamoun H, Chaaben H, Ben Salah G, Ben Salah R, et al. Clinical and laboratory findings in 8 patients with Bloom's syndrome. J Dermatol Case Rep. 2012 Mar 27. 6 (1):29-33. [Medline].
Sanz MM, German J, Cunniff C. Pagon RA, Adam MP, Ardinger HH, et al. GeneReviews® [Internet]. Seattle, Wash: University of Washington; April 7, 2016.
Ozawa T, Kondo N, Motoyoshi F, Kasahara K, Orii T. DNA mutation induced in the sequence upstream of the secreted MYU C-terminal coding sequence by ultraviolet irradiation in the cell line of Bloom's syndrome. Eur J Immunogenet. 1995 Apr. 22 (2):163-9. [Medline].
Draznin M, Robles DT, Nguyen V, Berg D. An unusual case of Bloom syndrome presenting with basal cell carcinoma. Dermatol Surg. 2009 Jan. 35 (1):131-4. [Medline].
Bhisitkul RB, Rizen M. Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. Br J Ophthalmol. 2004 Mar. 88(3):354-7. [Medline]. [Full Text].
Aljarad S, Alhamid A, Rahmeh AR, Alibraheem A, Wafa A, Alachkar W, et al. Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria. Oxf Med Case Reports. 2018 Dec. 2018 (12):omy096. [Medline].
Sultan SJ, Sultan ST. Bloom syndrome in two siblings. Pediatr Dermatol. 2010 Mar-Apr. 27(2):174-7. [Medline].
German J. The immunodeficiency of Bloom syndrome. Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York, NY: Oxford University Press; 1999. 335.
Cunniff C, Bassetti JA, Ellis NA. Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Mol Syndromol. 2017 Jan. 8 (1):4-23. [Medline].
Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006 May 8. 236(1):1-12. [Medline].
German J. Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet. 1997 Jan. 93 (1):100-6. [Medline].
Gruber SB, Ellis NA, Scott KK, Almog R, Kolachana P, Bonner JD, et al. BLM heterozygosity and the risk of colorectal cancer. Science. 2002 Sep 20. 297 (5589):2013. [Medline].
Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, et al. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Breast Cancer Res Treat. 2013 Jan. 137 (2):533-9. [Medline].
Relhan V, Sinha S, Bhatnagar T, Garg VK, Kochhar A. Bloom syndrome with extensive pulmonary involvement in a child. Indian J Dermatol. 2015 Mar-Apr. 60 (2):217. [Medline].
Nair G, Lobo I, Jayalaksmi TK, Uppe A, Jindal S, Chandra A, et al. Bloom syndrome with lung involvement. Lung India. 2009 Jul. 26 (3):92-4. [Medline].
Jian-Bing W, Cheng-Rang L, Yi-Ping M, Nan S, Hui L, Lin L. A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. Cutis. 2016 Feb. 97 (2):E10-3. [Medline].
McGowan J, Maize J, Cook J. Lupus-Like Histopathology in Bloom Syndrome: Reexamining the Clinical and Histologic Implications of Photosensitivity. Am J Dermatopathol. 2009 Oct 8. [Medline].
Sanz MM, German J, Cunniff C. Bloom's Syndrome. Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® [Internet]. University of Washington, Seattle; 2006 Mar 22 [Updated 2019].
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, et al. Bloom syndrome. Int J Dermatol. 2014 Jul. 53(7):798-802. [Medline].
Cunniff C, Djavid AR, Carrubba S, Cohen B, Ellis NA, Levy CF, et al. Health supervision for people with Bloom syndrome. Am J Med Genet A. 2018 Sep. 176 (9):1872-1881. [Medline].
Thomas ER, Shanley S, Walker L, Eeles R. Surveillance and treatment of malignancy in Bloom syndrome. Clin Oncol (R Coll Radiol). 2008 Jun. 20(5):375-9. [Medline].
Karalis A, Tischkowitz M, Millington GW. Dermatological manifestations of inherited cancer syndromes in children. Br J Dermatol. 2011 Feb. 164 (2):245-56. [Medline].
Oto S, Miyamoto S, Kudoh F, Horie H, Kinugawa N, Okimoto Y. Treatment for B-cell-type lymphoma in a girl associated with Bloom's syndrome. Clin Genet. 1992 Jan. 41 (1):46-50. [Medline].
Jastaniah W. Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. Pediatr Blood Cancer. 2016 Dec 14. [Medline].
Chisholm CA, Bray MJ, Karns LB. Successful pregnancy in a woman with Bloom syndrome. Am J Med Genet. 2001 Aug 1. 102(2):136-8. [Medline].