(Q33904573)

29 July 2017

0 references

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome (English)

1 reference

29 July 2017

11

Judith A Goodship

1 reference

29 July 2017

7

Ben Hamel

1 reference

29 July 2017

Victor L Ruiz-Perez

1

1 reference

29 July 2017

Stuart W J Tompson

2

1 reference

29 July 2017

Helen J Blair

3

1 reference

29 July 2017

Cecilia Espinoza-Valdez

4

1 reference

29 July 2017

Pablo Lapunzina

5

1 reference

29 July 2017

Elias O Silva

6

1 reference

29 July 2017

John L Gibbs

8

1 reference

29 July 2017

Ian D Young

9

1 reference

29 July 2017

Michael J Wright

10

1 reference

29 July 2017

language of work or name

English

0 references

publication date

4 February 2003

1 reference

American Journal of Human Genetics

29 July 2017

published in

1 reference

29 July 2017

volume

72

1 reference

29 July 2017

issue

3

1 reference

29 July 2017

page(s)

728-732

1 reference

Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism

29 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=1180248

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

A nonsense mutation in MSX1 causes Witkop syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

The Sequence of the Human Genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Syntaxin 18, a SNAP receptor that functions in the endoplasmic reticulum, intermediate compartment, and cis-Golgi vesicle trafficking

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Variable subcellular localization of a neuron-specific protein during NTera 2 differentiation into post-mitotic human neurons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Morphological Changes of Epiphyseal Plate in the Long Bone of Chondrodysplastic Dwarfism in Japanese Brown Cattle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

Bidirectional gene organization: a common architectural feature of the human genome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180248

A 165-base pair sequence between the dihydrofolate reductase gene and the divergently transcribed upstream gene is sufficient for bidirectional transcriptional activity

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12571802

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/368063

1 reference

29 July 2017

1 reference

29 July 2017

1 reference