(Q42590168)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover (English)

1 reference

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19 October 2019

1

1 reference

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19 October 2019

author name string

C Helms

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

G Fekete

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

K Csiszár

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

D Bonnet

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

A Munnich

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Donis-Keller

7

1 reference

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19 October 2019

C D Boyd

8

1 reference

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19 October 2019

language of work or name

English

0 references

publication date

1 October 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

19 October 2019

published in

1 reference

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19 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

4

1 reference

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19 October 2019

page(s)

958-962

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion

19 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=1914803

Chromosomal duplications in bacteria, fruit flies, and humans

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

A YAC contig map of the human genome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

The 1993-94 Généthon human genetic linkage map

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Genetic basis of inherited peripheral neuropathies.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

A to G polymorphism in ELN gene

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

A second-generation linkage map of the human genome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Supravalvular aortic stenosis.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914803

16 August 2018

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808614%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

8808614

1 reference