(Q33594025)

28 July 2017

1 reference

title

Oculoauriculovertebral spectrum and cerebral anomalies (English)

1 reference

28 July 2017

Schrander-Stumpel CT

1

1 reference

28 July 2017

de Die-Smulders CE

2

1 reference

28 July 2017

da Costa JJ

7

1 reference

28 July 2017

Maaswinkel-Mooy PD

9

1 reference

28 July 2017

C. T. Schrander-Stumpel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

C. E. de Die-Smulders

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

R. C. Hennekam

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

J. P. Fryns

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

P. X. Bouckaert

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

O. F. Brouwer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

J. J. da Costa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

E. J. Lommen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

P. D. Maaswinkel-Mooy

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

11 October 2022

language of work or name

English

0 references

publication date

1 May 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015953

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

https://europepmc.org/articles/PMC1015953?pdf=render

11 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1583660

Journal of Medical Genetics

11 October 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

5

1 reference

28 July 2017

page(s)

326-331

1 reference

Congenital Ear Abnormalities Due to Thalidomide.

28 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=1015953

OCULOAURICULOVERTEBRAL DYSPLASIA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Cranial defects in the Goldenhar syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Goldenhar syndrome. Report on a case with hydrocephalus (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Retinoic acid embryopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Oculoauriculovertebral anomaly: variability and causal heterogeneity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Selected clinical research involving the central nervous system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Variability versus "incidental findings" in the first and second branchial arch syndrome: unilateral variants with anophthalmia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Familial liability to intrauterine vascular impairments

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015953

Paroxysmal intracranial hypertension and oculoauriculovertebral dysplasia

30 October 2018

1 reference

12 December 2020

Vascular pathogenesis of unilateral craniofacial defects

1 reference

12 December 2020

[Hydrocephalus and the Goldenhar syndrome]

1 reference

12 December 2020

Goldenhar's syndrome associated with cranial and neurological malformations

1 reference

12 December 2020

Asymmetric crying facies: an index of other congenital anomalies

1 reference

12 December 2020

Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome)

1 reference

12 December 2020

[Goldenhar's syndrome and hydrocephalus (author's transl)]

1 reference

12 December 2020

The axial mesodermal dysplasia spectrum

1 reference

12 December 2020

Intracranial dermoid cyst in Goldenhar's syndrome. Case report

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.5.326

1 reference

28 July 2017

1 reference

28 July 2017

1 reference