(Q34797493)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

Nijmegen breakage syndrome

14 October 2019

main subject

microcephaly

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

author name string

J R Yates

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

A M Taylor

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

P Biggs

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

G M McGuire

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

C M McConville

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

C J Billing

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

N D Barnes

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

language of work or name

English

0 references

publication date

1 November 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

Archives of Disease in Childhood

14 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

431-434

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Nijmegen Breakage syndrome: a progress report

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

A new chromosomal instability disorder: the Nijmegen breakage syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Autosomal recessive nonsyndromal microcephaly with normal intelligence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

A new chromosome instability disorder.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

A new chromosomal instability disorder confirmed by complementation studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Further delineation of the Nijmegen breakage syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

Unusual T cell clones in a patient with Nijmegen breakage syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1511390

A chromosomal breakage syndrome with profound immunodeficiency

8 July 2018

1 reference

12 December 2020

Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients

1 reference

12 December 2020

Physical localization of microsatellite markers at the ataxia-telangiectasia locus at 11q22-q23

1 reference

12 December 2020

Nijmegen Breakage Syndrome: a progress report

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.73.5.431

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554361%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

8554361

1 reference