(Q35888956)

English

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

scientific article published in April 1994

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128964%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128964%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

craniosynostosis

0 references

Saethre-Chotzen syndrome

1 reference

based on heuristic

inferred from title

Jackson–Weiss syndrome

1 reference

based on heuristic

inferred from title

author name string

van Herwerden L

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128964%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Rose CS

2

1 reference

Europe PubMed Central

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25 October 2019

Reardon W

3

1 reference

Europe PubMed Central

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25 October 2019

Brueton LA

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128964%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Weissenbach J

5

1 reference

Europe PubMed Central

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25 October 2019

Malcolm S

6

1 reference

Europe PubMed Central

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25 October 2019

Winter RM

7

1 reference

Europe PubMed Central

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25 October 2019

language of work or name

0 references

publication date

1 April 1994

1 reference

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25 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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25 October 2019

54

1 reference

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25 October 2019

669-674

1 reference

Europe PubMed Central

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25 October 2019

4

1 reference

Europe PubMed Central

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25 October 2019

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

11 July 2018

Pitfalls of genetic counselling in Pfeiffer's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

11 July 2018

A strategy to reveal high-frequency RFLPs along the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

11 July 2018

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

11 July 2018

Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

11 July 2018

The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

11 July 2018

Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

11 July 2018

Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

24 September 2018

Assignment of a gene locus involved in craniosynostosis to chromosome 5qter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

24 September 2018

Is loss of band 7p21 really critical for manifestation of craniosynostosis in 7p-?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

24 September 2018

Newly recognized autosomal dominant disorder with craniosynostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

24 September 2018

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918100

24 September 2018

Mapping of human chromosome 5 microsatellite DNA polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8128964

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128964%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8128964%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

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