(Q35195173)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

review article

1 reference

title

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

R Mewar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A D Kline

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

W Harrison

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

K Rojas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

F Greenberg

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

J Overhauser

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 December 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

1269-1278

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

28 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=1682493

Trisomy 18q. A case report and review of karyotype-phenotype correlations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Clinical manifestations of familial 13;18 translocation.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Isolation and characterization of interspecific heat-resistant hybrids between a temperature-sensitive chinese hamster cell asparaginyl-tRNA synthetase mutant and normal human leukocytes: assignment of human asnS gene to chromosome 18.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Free proximal trisomy 21 without the Down syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Somatic cell hybrid deletion map of human chromosome 18

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Partial trisomy 18q in a newborn with typical 18 trisomy phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Normal phenotype and partial trisomy for the G positive region of chromosome 21

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682493

Trisomy 18qter and trisomy mapping of chromosome 18

13 July 2018

1 reference

12 December 2020

Trisomy 18q-. Trisomy mapping of chromosome 18 revisited

1 reference

12 December 2020

The crucial band for phenotype of trisomy 18

1 reference

12 December 2020

Trisomy 18 score: A rapid, reliable diagnostic test for trisomy 18

1 reference

12 December 2020

Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18) (p22;q21.3) translocation

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250043%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

PubMed publication ID

8250043

1 reference