(Q33673183)

28 July 2017

title

Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome (English)

1 reference

28 July 2017

main subject

Wolf-Hirschhorn syndrome

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Estabrooks LL

1

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28 July 2017

Lamb AN

2

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28 July 2017

Aylsworth AS

3

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28 July 2017

Callanan NP

4

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28 July 2017

Rao KW

5

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28 July 2017

publication date

1 February 1994

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Journal of Medical Genetics

28 July 2017

language of work or name

English

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published in

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28 July 2017

volume

31

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28 July 2017

issue

2

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28 July 2017

page(s)

103-107

1 reference

The Wolf-Hirschhorn syndrome. I. Genetics.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

Report of the committee on the genetic constitution of chromosome 4.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

A molecular deletion of distal chromosome 4p in two families with a satellited chromosome 4 lacking the Wolf-Hirschhorn syndrome phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

The Wolf-Hirschhorn (4p-) syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049668

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

30 October 2018

1 reference

12 December 2020

A taxonomic approach to the del(4p) phenotype

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

Recognition of a chromosome truncation site associated with α-thalassaemia by human telomerase

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.2.103

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28 July 2017

1 reference

28 July 2017

1 reference