(Q35225332)

17 September 2019

title

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746553%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

main subject

Wolf-Hirschhorn syndrome

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

chromosomal translocation

14 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

7

J F Gusella

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746553%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

author name string

M. R. Altherr

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

U. Bengtsson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

F. F. Elder

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

D. H. Ledbetter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

J. J. Wasmuth

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

M. E. McDonald

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

F. Greenberg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

14 November 2022

language of work or name

English

0 references

publication date

1 December 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746553%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

17 September 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1746553/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1746553/?tool=EBI

14 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

https://europepmc.org/articles/PMC1702407

14 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

https://europepmc.org/articles/PMC1702407?pdf=render

14 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1746553

American Journal of Human Genetics

14 November 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746553%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746553%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746553%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

page(s)

1235-1242

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1746553%20AND%20SRC:MED&resulttype=core&format=json

The Wolf-Hirschhorn syndrome. I. Genetics.

17 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

"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=1702407

Deletion of short arms of chromosome 4?5 in a child with defects of midline fusion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Deficiency on the short arms of a chromosome No. 4

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Simultaneous identification and banding of human chromosome material in somatic cell hybrids.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Microdeletion syndromes, balanced translocations, and gene mapping

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn 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=1702407

Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

A highly polymorphic locus very tightly linked to the Huntington's disease gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Clustering of multiallele DNA markers near the Huntington's disease gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1702407

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1746553