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The following citations include references to some of the most important medical and scientific publications about Bloom syndrome. Direct links provided for journal articles and video in the public domain and to abstracts for fee-based publications. Links to print sources and publisher websites also provided.

See, also, General Publications.

Note: for free, full-text access to many of the fee-based publications listed below, please sign in or... become a member.

Health supervision for people with Bloom syndrome. Cunniff, C., Djavid, A.R., Carrubba, S., Cohen B., Ellis, N.A., Levy, C.F., Jeong, S., Lederman, H.M., Vogiatzi, M., Walsh, M.F., Zauber, A.G. American Journal of Medical Genetics Part A 1-10, 2018.

 Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. , Martin, C.A, Sarlos, K., Logan, C.V., Thakur, R.S., Parry, D.A, Bizard, A.H., Leitch, A., Cleal, L., Ali, N.S., Al-Owain, M.A., Allen, W., Altmuler, J., Aza-Carmona, M., Barakat, B.A.Y., Barraza-Garcıa, J., Begtrup, A., Bogliolo, M., Cho, M.T., Cruz-Rojo, J., Dhahrabi, H.A.M., Elcioglu, N.H., GOSgene, Gorman, G.S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Stabej, P.Q., Malallah, A.J., Nurnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M.J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R.W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F.S., Surralles, J., Iglesais, A., Murayama, K. American Journal of Human Genetics 103, 221–231, 2018.

 Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families. Campbell, M.B., Campbell, W.C., Rogers, J., Rogers, N., Rogers, Z., Hurk A.M., Webb, A., Webb, T., Zaslaw, P. Molecular Case Studies 10.1101/mcs.a002816, 2018.

 Immunodeficiency in Bloom's Syndrome. Schoenaker, M.H.D., Henriet, S.S., Zonderland, J.,van Deuren, M., Pan-Hammarström, Q., Posthumus-van Sluijs, S.J., Pico-Knijnenburg, I.,Weemaes, C.M.R., IJspeer, H. Journal of Clinical Immunology 10.1007/s10875-017-0454-y, 2017.

 Bloom syndrome does not always present with sun-sensitive facial erythema. Bouman, A., van Koningsbruggen, S., Karakullukcu, M.B., Schreuder, W.H., Lakeman, P. European Journal of Medical Genetics pii: S1769-7212 (17)30478-0, 2017.

 Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Walsh, M.F., Chang, V.Y., Kohlmann, W.K., Scott H.S., Cunniff, C., Bourdeaut, F., Molenaar, J.J., Porter, C.C., Sandlund, J.T., Plon, S.E., Wang, L.L. Savage, S.A. Clinical Cancer Research 23(11): e23-31, 2017.

 First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis. Suspitsina, E.N., Sibgatullinaf, F.I., Lyazinac, L.V., Imyanitova, E.N. Molecular Syndromology 8:103–106, 2017.

 Bloom’s Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Cunniff, C., Bassetti, J.A., Ellis, N.A. Molecular Syndromology 8:4-23, 2016.

 Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. Hudson, D.F., Amor, D.J., Boys, A., Butler K., Williams L., Zhang T. Kalitsis, P. PLoS Genetics 12(12): e1006483, 2016.

 James L. German, a pioneer in early human genetic research turned 90. Passarge, E. American Journal of Medical Genetics Part A 170(6):1564-5, 2016.

 Bloom syndrome. Baum, V.C. and O'Flaherty, J.E. Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood, 3rd Edition pp. 60-61, 2015.

 Pyrimidine pool imbalance induced by BLM helicase contributes to genetic instability in Bloom syndrome. Chabosseau, P., Buhagiar-Labarchède, G., Onclercq-Delic, R., Lambert, S., Debatisse, M., Brison, O., and Amor-Guéret M. Nature Communications 2:368, 2011.

 Aberrant chromosome morphology in human cells defective for Holliday junction resolution. Wechsler, T., Newman, S., and West, S.C. Nature 471(7340):642-646, 2011.

 Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases. Ellis, N.A., Sander, M., Harris, C.C., Bohr, V.A. Mechanisms of Ageing and Development 129(11):681-691, 2008.

 Syndrome-causing mutations of BLM in persons in the Bloom's Syndrome Registry. German, J., Sanz, M., Ciocci, S., Ye, T.-Z., and Ellis, N.A. Human Mutation 28:743-753, 2007.

 Evaluation of Short Stature, Carbohydrate Metabolism and Other Endocrinopathies in Bloom's Syndrome. Diaz, A., Vogiatzi, M.G., Sanz, M.M., and German, J. Hormone Research in Paediatrics 66(3):111-117, 2006.

 Genomic Instability and Cancer: Insights from Analysis of Bloom Syndrome. Hickson, Ian D. U.S. National Institute of Health, 2006. [videocast, runtime: 01:04:45]

 Bloom syndrome. German, J. NORD Guide to Rare Disorders, 3rd Edition, pp. 159-160, 2002.

 Bloom syndrome. German, J. and Ellis, N.A. The Genetic Basis of Human Cancer, 2nd Edition (eds. Vogelstein, B. and Kinzler, K.W.), pp. 267-288, 2002.

 Bloom syndrome. German, J. and Ellis, N.A. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition (eds. Schriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D.), pp. 733-752, 2001.

 BLM, the Bloom's syndrome protein varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins. Sanz, M.M., Proytcheva, M., Ellis, N.A., Holloman, W. K., and German, J. Cytogenetics and Cell Genetics 91:217-223, 2000.

 Growth deficiency and malnutrition in Bloom syndrome. Keller, C., Keller, K.R., Shew, S.B., Plon, S.E. The Journal of Pediatrics 134(4):472-479, 1999.

 Bloom's syndrome. XX. The first 100 cancers. German, J. Cancer Genetics and Cytogenetics 93:101-107, 1997.

 Bloom's syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity. German, J., Ellis, N.A., and Proytcheva, M. Clinical Genetics 49:223-231, 1996.

 The Bloom's syndrome gene product is homologous to RecQ helicases. Ellis, N.A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D.J., Ciocci, S., Proytcheva, M., and German, J. Cell 83:655-666, 1995.

 Bloom syndrome. German, J. Dermatologic Clinics 13(1):7-18, 1995.

 Bloom syndrome: a Mendelian prototype of somatic mutational disease. German, J. Medicine 72:393-406, 1993.

 Bloom's syndrome: the German experience. Passarge, E. Annales de Génétique 34:179-197, 1991.

 A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. Chaganti, R.S.K., Schonberg, S., and German, J. Proceedings of the National Academy of Sciences of the United States of America 71:4508-4512, 1974.

 Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. German, J. American Journal of Human Genetics 21:196-227, 1969.

BSA Blog

2016 Bianco Family's Fundraiser

Second annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom syndrome. All proceeds from the 2016 campaign will go to Bloom Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2016 Bianco Family's Fundraiser.

2017 Bianco Family's Fundraiser

Third annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom syndrome. All proceeds from the 2017 campaign will go to Bloom Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2017 Bianco Family's Fundraiser.

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