(Q35250259)

English

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus

scientific article published in December 1997

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

based on heuristic

inferred from title

postaxial polydactyly

1 reference

based on heuristic

inferred from title

Ethylin Wang Jabs

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

T D Howard

1

1 reference

Europe PubMed Central

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8 November 2019

A E Guttmacher

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

W McKinnon

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M Sharma

4

1 reference

Europe PubMed Central

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8 November 2019

V A McKusick

5

1 reference

Europe PubMed Central

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8 November 2019

language of work or name

0 references

publication date

1 December 1997

1 reference

Europe PubMed Central

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8 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

61

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1405-1412

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Human/mouse homology relationships

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical ph

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Molecular basis for dominantly inherited inclusion body beta-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Structure and sequence of the human homeobox gene HOX7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

12 July 2018

Two enhancer domains control early aspects of the complex expression pattern of Msx1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

26 September 2018

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

26 September 2018

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

26 September 2018

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

26 September 2018

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716089

26 September 2018

[A correlated abnormality of the mandible and extremities (dysostosis acrofacialis)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oral manifestations of the Ellis-van Creveld syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief clinical report: Curry-Hall syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Weyers acrodental dysostosis in a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

von Willebrand disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/9399901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9399901%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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