(Q34615542)

3 August 2017

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry (English)

1 reference

3 August 2017

James German

1

1 reference

3 August 2017

Maureen M Sanz

2

1 reference

3 August 2017

Susan Ciocci

3

1 reference

3 August 2017

Tian Z Ye

4

1 reference

3 August 2017

Nathan A Ellis

5

1 reference

3 August 2017

language of work or name

1 reference

1 August 2007

1 reference

3 August 2017

1 reference

3 August 2017

28

1 reference

3 August 2017

743-753

1 reference

3 August 2017

8

1 reference

The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase

3 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Structure and function of RecQ DNA helicases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Genomic control for association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

The Bloom's syndrome gene product is homologous to RecQ helicases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Process or perish: quality control in mRNA biogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Bloom's syndrome. XX. The first 100 cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Molecular evidence that homologous recombination occurs in proliferating human somatic cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Structural and functional characterizations reveal the importance of a zinc binding domain in Bloom's syndrome helicase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Evidence for chromosome instability in vivo in bloom syndrome: Increased numbers of micronuclei in exfoliated cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Confounding from cryptic relatedness in case-control association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

The HRDC domain of BLM is required for the dissolution of double Holliday junctions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20501

7 January 2021

Identifiers

DOI

10.1002/HUMU.20501

1 reference

3 August 2017

1 reference