(Q34388180)

1 August 2017

title

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

1 reference

1 August 2017

1 reference

N A Ellis

1 reference

1 August 2017

S Ciocci

1 reference

1 August 2017

M Proytcheva

1 reference

1 August 2017

D Lennon

1 reference

1 August 2017

J Groden

1 reference

1 August 2017

J German

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

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1 August 2017

1 reference

1 August 2017

page(s)

1685-1693

1 reference

Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

Bloom's syndrome. XX. The first 100 cancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

Bloom's syndrome. XII. Report from the Registry for 1987.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377640

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837821

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal genetic carrier testing using triple disease screening

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837821

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9837821

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302167

1 reference

1 August 2017

1 reference

1 August 2017

1 reference