(Q35195824)

7 August 2017

Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome (English)

1 reference

7 August 2017

Yang-Feng TL

4

1 reference

7 August 2017

K. Y. Gandelman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379774

20 September 2022

L. Gibson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379774

20 September 2022

M. S. Meyn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379774

20 September 2022

T. L. Yang-Feng

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379774

20 September 2022

language of work or name

English

0 references

publication date

1 September 1992

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379774/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%3A1379774

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1379774/?tool=EBI

20 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379774

https://europepmc.org/articles/PMC1682730

20 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1379774

https://europepmc.org/articles/PMC1682730?pdf=render

20 September 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%3A1379774

American Journal of Human Genetics

20 September 2022

published in

1 reference

7 August 2017

51

1 reference

7 August 2017

571-578

1 reference

7 August 2017

3

1 reference

The Wolf-Hirschhorn syndrome. I. Genetics.

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

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=1682730

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=1682730

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=1682730

Partial deletion 21: case report with biochemical studies and review

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Basic fibroblast growth factor prevents death of lesioned cholinergic neurons in vivo

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

A somatic cell hybrid panel for localizing DNA segments 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=1682730

The heparin-binding (fibroblast) growth factor family of proteins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Clinical diagnosis of partial duplication 7q.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Chromosomal organization of adrenergic receptor genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

A yeast artificial chromosome telomere clone spanning a possible location of 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=1682730

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=1682730

Fibroblast growth factor stimulates the proliferation and differentiation of neural precursor cells in vitro

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase 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=1682730

Defined physical limits of the Huntington disease gene candidate region

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation 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=1682730

New DNA markers in the Huntington's disease gene candidate region

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Mapping of cosmid clones in Huntington's disease region 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=1682730

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human 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=1682730

A (4;7) translocation, 46 chromosomes. Repository identification No. GM-1220.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682730

Proximal 4p-deletion: phenotype differs from classical 4p-syndrome

13 July 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the ?critical segment? towards the telomere

1 reference

12 December 2020

A taxonomic approach to the del(4p) phenotype

1 reference

12 December 2020

1 reference

12 December 2020

Elucidation of the cytogenetic abnormality in a 4p- "phenocopy"

1 reference

12 December 2020

The Wolf-Hirschhorn syndrome. II. Pathologic anatomy

1 reference

12 December 2020

Identifiers

PMCID

1682730

1 reference

7 August 2017

1 reference