(Q35889727)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

L Boghosian-Sell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

R Mewar

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

W Harrison

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

R M Shapiro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

E H Zackai

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

J Carey

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

L Davis-Keppen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

L Hudgins

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

J Overhauser

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

language of work or name

English

0 references

publication date

1 September 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

55

1 reference

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24 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

476-483

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

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

24 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=1918415

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Specificity versus nonspecificity in the pathogenesis of aneuploid phenotypes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

The 18p- syndrome. Report of five cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Clinical management considerations in long-term survivors with trisomy 18.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Late hydrocephalus after arrest and resolution of neonatal post-hemorrhagic hydrocephalus.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Karyotype/phenotype controversy: genetic and molecular implications of alternative hypotheses

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Somatic cell hybrid deletion map of human chromosome 18

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918415

The crucial band for phenotype of trisomy 18

11 July 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The pathogenesis of aneuploid phenotypes: the fallacy of explanatory reductionism

1 reference

12 December 2020

Clinical and chromosomal studies of the 18q-syndrome

1 reference

12 December 2020

Trisomy 18qter and trisomy mapping of chromosome 18

1 reference

12 December 2020

Trisomy 18q-. Trisomy mapping of chromosome 18 revisited

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8079991%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

8079991

1 reference