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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… 
National Institutes of Health

Related topics

Related topics

41 relations
AdenocarcinomaAutosomal recessive inheritanceAzoospermiaBLM gene

Broader (3)

Chromosome AberrationsCongenital chromosomal diseaseSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
The Bloom's Syndrome Helicase Can Promote the Regression of a Model Replication Fork*
Homozygous inactivation of BLM gives rise to Bloom's syndrome, a disorder associated with genomic instability and cancer… 
Highly Cited
2003
Highly Cited
2003
A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome
ABSTRACT Bloom syndrome (BS) is a genetic disorder associated with dwarfism, immunodeficiency, reduced fertility, and an elevated… 
Highly Cited
2001
Highly Cited
2001
Regulation and Localization of the Bloom Syndrome Protein in Response to DNA Damage
Bloom syndrome (BS) is an autosomal recessive disorder characterized by a high incidence of cancer and genomic instability. BLM… 
Highly Cited
2000
Highly Cited
2000
Replication Protein A Physically Interacts with the Bloom's Syndrome Protein and Stimulates Its Helicase Activity*
Bloom's syndrome is a rare autosomal recessive disorder characterized by genomic instability and predisposition to cancer. BLM… 
Highly Cited
2000
Highly Cited
2000
Binding and melting of D-loops by the Bloom syndrome helicase.
Bloom syndrome is a rare autosomal disorder characterized by predisposition to cancer and genomic instability. BLM, the… 
Highly Cited
1998
Highly Cited
1998
The Bloom’s Syndrome Helicase Unwinds G4 DNA*
BLM, the gene that is defective in Bloom’s syndrome, encodes a protein homologous to RecQ subfamily helicases that functions as a… 
Highly Cited
1997
Highly Cited
1997
rqh1+, a fission yeast gene related to the Bloom‘s and Werner's syndrome genes, is required for reversible S phase arrest
In eukaryotic cells, S phase can be reversibly arrested by drugs that inhibit DNA synthesis or DNA damage. Here we show that… 
Highly Cited
1996
Highly Cited
1996
SGS1, a homologue of the Bloom's and Werner's syndrome genes, is required for maintenance of genome stability in Saccharomyces cerevisiae.
The Saccharomyces cerevisiae SGS1 gene is homologous to Escherichia coli RecQ and the human BLM and WRN proteins that are… 
Highly Cited
1993
Highly Cited
1993
Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease
Spontaneous mutations in human somatic cells occur far more often than normal in individuals with Bloom syndrome. The basis for… 
Highly Cited
1965
Highly Cited
1965
Chromosomal Breakage in a Rare and Probably Genetically Determined Syndrome of Man
A high frequency of chromosomal breakage and rearrangement has been found in cultured blood cells from six of seven individuals… 
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