(Q30582812)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Sarah MacKinnon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Darren T Oystreck

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Caroline Andrews

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Wai-Man Chan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Elizabeth C Engle

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

publication date

6 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

1461-1468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease

10 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Superior rectus transposition and medial rectus recession for Duane syndrome and sixth nerve palsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Further considerations about the ophthalmic features of the Möbius sequence, with data of 28 cases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Neuropsychiatric findings of Möbius sequence -- a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

OBSERVATIONS ON THE PATHOLOGY OF THE MOEBIUS SYNDROME.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

The puzzle of autism: an ophthalmologic contribution

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

The spectrum of congenital facial diplegia (Moebius syndrome).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Moebius syndrome in association with hypogonadotropic hypogonadism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Mobius syndrome and limb abnormalities

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Genetics of Mobius syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Mobius Syndrome and Poland Anomaly: Case Report and Review of the Literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Moebius Syndrome in Kallmann Syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Incidence and types of childhood esotropia: a population-based study.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

A case of Mobius syndrome--radiological and electrophysiological findings

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

The neuropathology of hereditary congenital facial palsy vs Möbius syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Mobius sequence--a Swedish multidiscipline study.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Ocular and clinical manifestations of Möbius' syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

The möbius sequence: a relook.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Möbius sequence and severe pons hypoplasia: a case report

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

A severe case of Moebius syndrome with calcification on the fourth ventricular floor

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4082742

Möbius syndrome. Neuropathologic observations

26 November 2018

1 reference

12 December 2020

Möbius syndrome. Electron microscopic study of the extraocular muscles

1 reference

12 December 2020

Extraocular muscle aplasia in Moebius syndrome

1 reference

12 December 2020

New report of a familial case of Moebius syndrome presenting skeletal findings

1 reference

12 December 2020

Ophthalmologic and systemic features in möbius syndrome an italian case series

1 reference

12 December 2020

Profile of ocular and systemic characteristics in Möbius sequence patients from Brazil and Italy

1 reference

12 December 2020

10.1016/J.OPHTHA.2014.01.006

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

release_d7sak2zxhjcidjntozmn5sd47a

10 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d7sak2zxhjcidjntozmn5sd47a

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24612975%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

24612975

1 reference