(Q21202970)

Dimensions Publication ID

Dimensions

18 August 2022

Geneviève Baujat

1

Geneviève

Baujat

1 reference

Dimensions Publication ID

Dimensions

1002666252

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

4 June 2007

4 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

4 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

2

0 references

issue

1

0 references

page(s)

27

0 references

copyright license

Creative Commons Attribution 2.0 Generic

4 references

12 March 2019

13 March 2019

22 April 2019

on focus list of Wikimedia project

17 June 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Oral manifestations of chondroectodermal dysplasia (Ellis-Van Creveld Syndrome). Report of a case

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Chondroectodermal dysplasia (Ellis-van Creveld syndrome): report of two cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Ellis-van Creveld syndrome. A report of previously undescribed anomalies in two siblings

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Perinatal leukemia with a possible variant of the Ellis-van Greveld syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Diagnostic dilemmas in the short rib-polydactyly syndrome group

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Ellis-van Creveld syndrome and the Amish.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Nephronophthisis associated with Ellis-van Creveld syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1891277

Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study

29 November 2018

1 reference

12 December 2020

Difficulties in Differentiation between Chondroectodermal Dysplasia (Ellis–van Creveld syndrome) and Asphyxiating Thoracic Dystrophy

1 reference

12 December 2020

Chondroectodermal dysplasia: Ellis-van Creveld syndrome

1 reference

12 December 2020

Correction of knee deformity in patients with Ellis-van Creveld syndrome

1 reference

12 December 2020

CHONDROECTODERMAL DYSPLASIA (ELLIS-VAN CREVELD SYNDROME) WITH BRONCHIAL MALFORMATION AND NEONATAL TENSION LOBAR EMPHYSEMA

1 reference

12 December 2020

Ellis-van Creveld syndrome and dyserythropoiesis

1 reference

12 December 2020

Ellis-van Creveld syndrome. An inbred kindred with five cases

1 reference

12 December 2020

Congenital heart disease and chondroectodermal dysplasia. Report of two cases, one in a Negro

1 reference

12 December 2020

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

1 reference

12 December 2020

ASPHYXIATING THROACIC DYSTROPHY. RADIOLOGICAL STUDY AND RELATION TO THE ELLIS-VAN CREVELD SYNDROME

1 reference

12 December 2020

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes

1 reference

12 December 2020

Ellis-Van Creveld's chondro-ectodermic dysplasia : 2 cases in the same familly

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-2-27

1 reference

Dimensions Publication ID

1002666252

0 references

1 reference

1 reference

PubMed publication ID

17547743

1 reference