Bloom Syndrome

Known as: blooms syndrome, Bloom's Syndrome, BLM 
A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice, and fertility… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Bloom's syndrome (BS) is an autosomal recessive disorder characterized by a strong cancer predisposition. The defining feature of… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Mutations in BLM, which encodes a RecQ helicase, give rise to Bloom's syndrome, a disorder associated with cancer predisposition… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Bloom syndrome (BS) is a genetic disorder associated with dwarfism, immunodeficiency, reduced fertility, and an elevated risk of… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2001
Highly Cited
2001
BLM and WRN, the products of the Bloom's and Werner's syndrome genes, are members of the RecQ family of DNA helicases. Although… (More)
  • table 1
  • table 2
  • figure 1
  • figure 2
  • figure 4
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Bloom's syndrome is a rare genetic disorder associated with loss of genomic integrity and a large increase in the incidence of… (More)
  • figure 1
  • figure 3
  • figure 2
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Bloom's syndrome (BS) is an autosomal recessive disorder associated with dwarfism, immunodeficiency, reduced fertility, and… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Bloom syndrome is a disorder associated with genomic instability that causes affected people to be prone to cancer. Bloom cell… (More)
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?
Highly Cited
1995
Highly Cited
1995
The Bloom's syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. A… (More)
  • figure 1
  • figure 2
  • figure 4
  • figure 5
  • figure 6
Is this relevant?
Highly Cited
1993
Highly Cited
1993
Spontaneous mutations in human somatic cells occur far more often than normal in individuals with Bloom syndrome. The basis for… (More)
Is this relevant?
Highly Cited
1974
Highly Cited
1974
Dividing cells from persons with Bloom's syndrome, an autosomal recessive disorder of growth, exhibit increased numbers of… (More)
  • table 1
  • table 2
  • figure 2
  • figure 1
  • figure 3
Is this relevant?