(Q42219871)

18 October 2017

Bloom syndrome: multiple retinopathies in a chromosome breakage disorder (English)

1 reference

18 October 2017

1 reference

R B Bhisitkul

1

1 reference

18 October 2017

M Rizen

series ordinal

2

1 reference

18 October 2017

language of work or name

English

0 references

publication date

1 March 2004

1 reference

British Journal of Ophthalmology

18 October 2017

1 reference

18 October 2017

88

1 reference

18 October 2017

3

1 reference

18 October 2017

354-357

1 reference

Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity.

18 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Increased error-prone non homologous DNA end-joining--a proposed mechanism of chromosomal instability in Bloom's syndrome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Premature aging and predisposition to cancers caused by mutations in RecQ family helicases.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Bloom's syndrome. XX. The first 100 cancers

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772056

Eye findings in congenital telangiectatic erythema and growth retardation (Bloom's syndrome)

3 November 2018

1 reference

12 December 2020

A case of Bloom syndrome with conjunctival telangiectasia

1 reference

12 December 2020

Prognostic significance of retinopathy at presentation in adult acute leukemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation

1 reference

12 December 2020

Dwarfism with skin manifestations

1 reference

12 December 2020

Ocular involvement in leukemia and allied disorders

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.2002.011643

1 reference

18 October 2017

1 reference

18 October 2017

PubMed publication ID

14977768

1 reference