Bloom syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Bloom syndrome" in English language version.

refsWebsite

Global rank English rank

32nih.gov

4^th place

22doi.org

2^nd place

7semanticscholar.org

11^th place

8^th place

3worldcat.org

5^th place

2harvard.edu

18^th place

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2cornell.edu

332^nd place

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1omim.org

4,380^th place

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1fda.gov

447^th place

338^th place

1rarediseases.org

5,181^st place

3,260^th place

cornell.edu

weill.cornell.edu

"Bloom Syndrome Registry | Pediatrics".
"Data from the Bloom's Syndrome Registry, 2009". Weill Cornell Medical College. Weill Cornell Medical Center. 2009. Retrieved 17 April 2015.

doi.org

Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity". American Journal of Diseases of Children. 88 (6): 754–8. doi:10.1001/archpedi.1954.02050100756008. PMID 13206391.
Keller, C; et al. (Apr 1999). "Growth deficiency and malnutrition in Bloom syndrome". J Pediatr. 134 (4): 472–479. doi:10.1016/s0022-3476(99)70206-4. PMID 10190923.
German, James M.D. (November 1993). "Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease". Medicine. 72 (6): 393–406. doi:10.1097/00005792-199311000-00003. PMID 8231788. S2CID 31448222.
Diaz, A; et al. (Jun 9, 2006). "Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome". Horm Res. 66 (3): 111–117. doi:10.1159/000093826. PMID 16763388. S2CID 27176412.
Ben Salah, G; et al. (Nov 2014). "A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members". Mol Biol Rep. 41 (11): 7373–7380. doi:10.1007/s11033-014-3624-5. PMID 25129257. S2CID 11074294.
Cunniff, Christopher; Bassetti, Jennifer A.; Ellis, Nathan A. (2017). "Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition". Molecular Syndromology. 8 (1): 4–23. doi:10.1159/000452082. ISSN 1661-8769. PMC 5260600. PMID 28232778.
Hudson, Damien F.; et al. (15 December 2016). "Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome". PLOS Genet. 12 (12). e1006483. doi:10.1371/journal.pgen.1006483. PMC 5157948. PMID 27977684.
Martin CA, et al. (2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". Am J Hum Genet. 103 (2): 221–231. doi:10.1016/j.ajhg.2018.07.001. PMC 6080766. PMID 30057030.
Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom syndrome and Fanconi Anemia". Mol. Cell. 36 (6): 943–53. doi:10.1016/j.molcel.2009.12.006. PMID 20064461.
Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J (1995). "The Bloom's syndrome gene product is homologous to RecQ helicases". Cell. 83 (4): 655–666. doi:10.1016/0092-8674(95)90105-1. PMID 7585968. S2CID 13439128.
German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA (2007). "Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry". Human Mutation. 28 (8): 743–753. doi:10.1002/humu.20501. PMID 17407155. S2CID 44382072.
So S, Adachi N, Lieber MR, Koyama H (2004). "Genetic interactions between BLM and DNA ligase IV in human cells". J. Biol. Chem. 279 (53): 55433–42. doi:10.1074/jbc.M409827200. PMID 15509577.
German J (Jan 1995). "Bloom's syndrome". Dermatol Clin. 13 (1): 7–18. doi:10.1016/S0733-8635(18)30101-3. PMID 7712653.
Langlois RG, Bigbee WL, Jensen RH, German J (Jan 1989). "Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome". Proc Natl Acad Sci U S A. 86 (2): 670–4. Bibcode:1989PNAS...86..670L. doi:10.1073/pnas.86.2.670. PMC 286535. PMID 2911598.
Kristian Moss Bendtsen; Martin Borch Jensen; Alfred May; Lene Juel Rasmussen; Ala Trusina; Vilhelm A. Bohr; Mogens H. Jensen (2014). "Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli". European Biophysics Journal. 43 (10–11): 509–16. doi:10.1007/s00249-014-0981-x. PMC 5576897. PMID 25119658.
Bizard, A. H.; Hickson, I. D. (1 July 2014). "The Dissolution of Double Holliday Junctions". Cold Spring Harbor Perspectives in Biology. 6 (7): a016477. doi:10.1101/cshperspect.a016477. PMC 4067992. PMID 24984776.
Hodson, Charlotte; Low, Jason K. K.; van Twest, Sylvie; Jones, Samuel E.; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K. (2022-02-08). "Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability". Proceedings of the National Academy of Sciences of the United States of America. 119 (6): e2109093119. Bibcode:2022PNAS..11909093H. doi:10.1073/pnas.2109093119. ISSN 1091-6490. PMC 8832983. PMID 35115399.
Martin, Carol-Anne; et al. (August 2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". The American Journal of Human Genetics. 103 (2): 221–231. doi:10.1016/j.ajhg.2018.07.001. PMC 6080766. PMID 30057030.
German J (Jan 1997). "Bloom's syndrome. XX. The first 100 cancers". Cancer Genet Cytogenet. 93 (1): 100–6. doi:10.1016/s0165-4608(96)00336-6. PMID 9062585.
Bythell-Douglas, Rohan; Deans, Andrew J. (2021-02-04). "A Structural Guide to the Bloom Syndrome Complex". Structure. 29 (2): 99–113. doi:10.1016/j.str.2020.11.020. ISSN 1878-4186. PMID 33357470. S2CID 229689882.
Li L, Eng C, Desnick B, German J, Ellis NA (1998). "Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population". Mol Genet Metab. 64 (4): 286–290. doi:10.1006/mgme.1998.2733. PMID 9758720.
German, James; Bloom, David; Passarge, Eberhard (23 April 2008). "Bloom's syndrome. V. Surveillance for cancer in affected families". Clinical Genetics. 12 (3): 162–168. doi:10.1111/j.1399-0004.1977.tb00919.x. PMID 908169. S2CID 40914579.

fda.gov

"FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome". U.S. Food and Drug Administration. Retrieved 19 May 2015.

harvard.edu

ui.adsabs.harvard.edu

Langlois RG, Bigbee WL, Jensen RH, German J (Jan 1989). "Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome". Proc Natl Acad Sci U S A. 86 (2): 670–4. Bibcode:1989PNAS...86..670L. doi:10.1073/pnas.86.2.670. PMC 286535. PMID 2911598.
Hodson, Charlotte; Low, Jason K. K.; van Twest, Sylvie; Jones, Samuel E.; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K. (2022-02-08). "Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability". Proceedings of the National Academy of Sciences of the United States of America. 119 (6): e2109093119. Bibcode:2022PNAS..11909093H. doi:10.1073/pnas.2109093119. ISSN 1091-6490. PMC 8832983. PMID 35115399.

nih.gov

pubmed.ncbi.nlm.nih.gov

Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity". American Journal of Diseases of Children. 88 (6): 754–8. doi:10.1001/archpedi.1954.02050100756008. PMID 13206391.
Keller, C; et al. (Apr 1999). "Growth deficiency and malnutrition in Bloom syndrome". J Pediatr. 134 (4): 472–479. doi:10.1016/s0022-3476(99)70206-4. PMID 10190923.
German, James M.D. (November 1993). "Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease". Medicine. 72 (6): 393–406. doi:10.1097/00005792-199311000-00003. PMID 8231788. S2CID 31448222.
Diaz, A; et al. (Jun 9, 2006). "Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome". Horm Res. 66 (3): 111–117. doi:10.1159/000093826. PMID 16763388. S2CID 27176412.
Ben Salah, G; et al. (Nov 2014). "A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members". Mol Biol Rep. 41 (11): 7373–7380. doi:10.1007/s11033-014-3624-5. PMID 25129257. S2CID 11074294.
Flanagan & Cunniff (2019). Flanagan M, Cunniff CM (February 14, 2019) [March 22, 2006]. Adam MP, Ardinger HH, Pagon RA, et al. (eds.). "Bloom syndrome". GeneReviews. Seattle (WA): University of Washington. PMID 20301572. Retrieved July 14, 2019.
Cunniff, Christopher; Bassetti, Jennifer A.; Ellis, Nathan A. (2017). "Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition". Molecular Syndromology. 8 (1): 4–23. doi:10.1159/000452082. ISSN 1661-8769. PMC 5260600. PMID 28232778.
Hudson, Damien F.; et al. (15 December 2016). "Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome". PLOS Genet. 12 (12). e1006483. doi:10.1371/journal.pgen.1006483. PMC 5157948. PMID 27977684.
Martin CA, et al. (2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". Am J Hum Genet. 103 (2): 221–231. doi:10.1016/j.ajhg.2018.07.001. PMC 6080766. PMID 30057030.
Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom syndrome and Fanconi Anemia". Mol. Cell. 36 (6): 943–53. doi:10.1016/j.molcel.2009.12.006. PMID 20064461.
Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J (1995). "The Bloom's syndrome gene product is homologous to RecQ helicases". Cell. 83 (4): 655–666. doi:10.1016/0092-8674(95)90105-1. PMID 7585968. S2CID 13439128.
German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA (2007). "Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry". Human Mutation. 28 (8): 743–753. doi:10.1002/humu.20501. PMID 17407155. S2CID 44382072.
So S, Adachi N, Lieber MR, Koyama H (2004). "Genetic interactions between BLM and DNA ligase IV in human cells". J. Biol. Chem. 279 (53): 55433–42. doi:10.1074/jbc.M409827200. PMID 15509577.
German J (Jan 1995). "Bloom's syndrome". Dermatol Clin. 13 (1): 7–18. doi:10.1016/S0733-8635(18)30101-3. PMID 7712653.
Langlois RG, Bigbee WL, Jensen RH, German J (Jan 1989). "Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome". Proc Natl Acad Sci U S A. 86 (2): 670–4. Bibcode:1989PNAS...86..670L. doi:10.1073/pnas.86.2.670. PMC 286535. PMID 2911598.
Kristian Moss Bendtsen; Martin Borch Jensen; Alfred May; Lene Juel Rasmussen; Ala Trusina; Vilhelm A. Bohr; Mogens H. Jensen (2014). "Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli". European Biophysics Journal. 43 (10–11): 509–16. doi:10.1007/s00249-014-0981-x. PMC 5576897. PMID 25119658.
Bizard, A. H.; Hickson, I. D. (1 July 2014). "The Dissolution of Double Holliday Junctions". Cold Spring Harbor Perspectives in Biology. 6 (7): a016477. doi:10.1101/cshperspect.a016477. PMC 4067992. PMID 24984776.
Hodson, Charlotte; Low, Jason K. K.; van Twest, Sylvie; Jones, Samuel E.; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K. (2022-02-08). "Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability". Proceedings of the National Academy of Sciences of the United States of America. 119 (6): e2109093119. Bibcode:2022PNAS..11909093H. doi:10.1073/pnas.2109093119. ISSN 1091-6490. PMC 8832983. PMID 35115399.
Martin, Carol-Anne; et al. (August 2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". The American Journal of Human Genetics. 103 (2): 221–231. doi:10.1016/j.ajhg.2018.07.001. PMC 6080766. PMID 30057030.
German J (Jan 1997). "Bloom's syndrome. XX. The first 100 cancers". Cancer Genet Cytogenet. 93 (1): 100–6. doi:10.1016/s0165-4608(96)00336-6. PMID 9062585.
Bythell-Douglas, Rohan; Deans, Andrew J. (2021-02-04). "A Structural Guide to the Bloom Syndrome Complex". Structure. 29 (2): 99–113. doi:10.1016/j.str.2020.11.020. ISSN 1878-4186. PMID 33357470. S2CID 229689882.
Li L, Eng C, Desnick B, German J, Ellis NA (1998). "Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population". Mol Genet Metab. 64 (4): 286–290. doi:10.1006/mgme.1998.2733. PMID 9758720.
German, James; Bloom, David; Passarge, Eberhard (23 April 2008). "Bloom's syndrome. V. Surveillance for cancer in affected families". Clinical Genetics. 12 (3): 162–168. doi:10.1111/j.1399-0004.1977.tb00919.x. PMID 908169. S2CID 40914579.

ncbi.nlm.nih.gov

Flanagan & Cunniff (2019). Flanagan M, Cunniff CM (February 14, 2019) [March 22, 2006]. Adam MP, Ardinger HH, Pagon RA, et al. (eds.). "Bloom syndrome". GeneReviews. Seattle (WA): University of Washington. PMID 20301572. Retrieved July 14, 2019.
Cunniff, Christopher; Bassetti, Jennifer A.; Ellis, Nathan A. (2017). "Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition". Molecular Syndromology. 8 (1): 4–23. doi:10.1159/000452082. ISSN 1661-8769. PMC 5260600. PMID 28232778.
Hudson, Damien F.; et al. (15 December 2016). "Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome". PLOS Genet. 12 (12). e1006483. doi:10.1371/journal.pgen.1006483. PMC 5157948. PMID 27977684.
Martin CA, et al. (2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". Am J Hum Genet. 103 (2): 221–231. doi:10.1016/j.ajhg.2018.07.001. PMC 6080766. PMID 30057030.
Langlois RG, Bigbee WL, Jensen RH, German J (Jan 1989). "Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome". Proc Natl Acad Sci U S A. 86 (2): 670–4. Bibcode:1989PNAS...86..670L. doi:10.1073/pnas.86.2.670. PMC 286535. PMID 2911598.
Kristian Moss Bendtsen; Martin Borch Jensen; Alfred May; Lene Juel Rasmussen; Ala Trusina; Vilhelm A. Bohr; Mogens H. Jensen (2014). "Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli". European Biophysics Journal. 43 (10–11): 509–16. doi:10.1007/s00249-014-0981-x. PMC 5576897. PMID 25119658.
Bizard, A. H.; Hickson, I. D. (1 July 2014). "The Dissolution of Double Holliday Junctions". Cold Spring Harbor Perspectives in Biology. 6 (7): a016477. doi:10.1101/cshperspect.a016477. PMC 4067992. PMID 24984776.
Hodson, Charlotte; Low, Jason K. K.; van Twest, Sylvie; Jones, Samuel E.; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K. (2022-02-08). "Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability". Proceedings of the National Academy of Sciences of the United States of America. 119 (6): e2109093119. Bibcode:2022PNAS..11909093H. doi:10.1073/pnas.2109093119. ISSN 1091-6490. PMC 8832983. PMID 35115399.
Martin, Carol-Anne; et al. (August 2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". The American Journal of Human Genetics. 103 (2): 221–231. doi:10.1016/j.ajhg.2018.07.001. PMC 6080766. PMID 30057030.

omim.org

Online Mendelian Inheritance in Man (OMIM): Bloom Syndrome; BLM - 210900

rarediseases.org

"Bloom Syndrome - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2023-09-25.

semanticscholar.org

api.semanticscholar.org

German, James M.D. (November 1993). "Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease". Medicine. 72 (6): 393–406. doi:10.1097/00005792-199311000-00003. PMID 8231788. S2CID 31448222.
Diaz, A; et al. (Jun 9, 2006). "Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome". Horm Res. 66 (3): 111–117. doi:10.1159/000093826. PMID 16763388. S2CID 27176412.
Ben Salah, G; et al. (Nov 2014). "A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members". Mol Biol Rep. 41 (11): 7373–7380. doi:10.1007/s11033-014-3624-5. PMID 25129257. S2CID 11074294.
Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J (1995). "The Bloom's syndrome gene product is homologous to RecQ helicases". Cell. 83 (4): 655–666. doi:10.1016/0092-8674(95)90105-1. PMID 7585968. S2CID 13439128.
German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA (2007). "Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry". Human Mutation. 28 (8): 743–753. doi:10.1002/humu.20501. PMID 17407155. S2CID 44382072.
Bythell-Douglas, Rohan; Deans, Andrew J. (2021-02-04). "A Structural Guide to the Bloom Syndrome Complex". Structure. 29 (2): 99–113. doi:10.1016/j.str.2020.11.020. ISSN 1878-4186. PMID 33357470. S2CID 229689882.
German, James; Bloom, David; Passarge, Eberhard (23 April 2008). "Bloom's syndrome. V. Surveillance for cancer in affected families". Clinical Genetics. 12 (3): 162–168. doi:10.1111/j.1399-0004.1977.tb00919.x. PMID 908169. S2CID 40914579.

worldcat.org

search.worldcat.org

Cunniff, Christopher; Bassetti, Jennifer A.; Ellis, Nathan A. (2017). "Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition". Molecular Syndromology. 8 (1): 4–23. doi:10.1159/000452082. ISSN 1661-8769. PMC 5260600. PMID 28232778.
Hodson, Charlotte; Low, Jason K. K.; van Twest, Sylvie; Jones, Samuel E.; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K. (2022-02-08). "Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability". Proceedings of the National Academy of Sciences of the United States of America. 119 (6): e2109093119. Bibcode:2022PNAS..11909093H. doi:10.1073/pnas.2109093119. ISSN 1091-6490. PMC 8832983. PMID 35115399.
Bythell-Douglas, Rohan; Deans, Andrew J. (2021-02-04). "A Structural Guide to the Bloom Syndrome Complex". Structure. 29 (2): 99–113. doi:10.1016/j.str.2020.11.020. ISSN 1878-4186. PMID 33357470. S2CID 229689882.