(Q40222990)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Victor L Ruiz-Perez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

8

Judith A Goodship

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

Helen J Blair

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Stephanie Barton

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Victoria Navarro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Joanne L Robson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Michael J Wright

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

publication date

21 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

663-670

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024374%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-006-0237-7

20 December 2019

exact match

0 references

cites work

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

1 reference

12 December 2020

Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia

1 reference

12 December 2020

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

1 reference

12 December 2020

Digenic inheritance of severe insulin resistance in a human pedigree

1 reference

12 December 2020

A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

1 reference

12 December 2020

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

12 December 2020

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

12 December 2020

Two cases of Ellis-van Creveld syndrome in a small island population

1 reference

12 December 2020

Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

1 reference

12 December 2020

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

1 reference

12 December 2020

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

1 reference

12 December 2020