(Q34142158)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

case report

0 references

title

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1

Goodship J

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

Gill H

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Carter J

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Splitt M

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Wright M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

11 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 November 2019

published in

1 reference

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8 November 2019

volume

67

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

498-503

1 reference

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8 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Multiple ATM-dependent pathways: an explanation for pleiotropy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Positional cloning of the gene for Nijmegen breakage syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Duplication of ATR inhibits MyoD, induces aneuploidy and eliminates radiation-induced G1 arrest

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Possible new variant of Nijmegen breakage syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Microcephalic osteodysplastic dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Cloning of an SNF2/SWI2-related protein that binds specifically to the SPH motifs of the SV40 enhancer and to the HIV-1 promoter

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287195

A new (brachymelic) type of primordial dwarfism (author's transl)

5 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10889046

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/303023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10889046%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference