Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. (Q30478572)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15879499%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype (English)

1 reference

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Oculocerebrocutaneous syndrome

11 January 2020

main subject

1 reference

1 reference

4

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11 January 2020

Lynne M Bird

series ordinal

3

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11 January 2020

author name string

Moog U

series ordinal

1

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11 January 2020

Jones MC

series ordinal

2

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11 January 2020

language of work or name

English

0 references

publication date

6 May 2005

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Journal of Medical Genetics

11 January 2020

published in

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11 January 2020

volume

42

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11 January 2020

issue

12

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11 January 2020

page(s)

913-921

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Development and malformations of the cerebellum in mice

11 January 2020

cites work

1 reference

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Human malformations of the midbrain and hindbrain: review and proposed classification scheme

20 June 2018

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Neural plate patterning: upstream and downstream of the isthmic organizer

20 June 2018

1 reference

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Positioning the isthmic organizer where Otx2 and Gbx2meet.

20 June 2018

1 reference

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Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations

20 June 2018

1 reference

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Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect

20 June 2018

1 reference

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Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity.

20 June 2018

1 reference

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Oculocerebrocutaneous syndrome.

20 June 2018

1 reference

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Spinal cord involvement in encephalocraniocutaneous lipomatosis

20 June 2018

1 reference

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The oculocerebrocutaneous (Delleman) syndrome

20 June 2018

1 reference

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Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature

20 June 2018

1 reference

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Oculocerebrocutaneous syndrome

20 June 2018

1 reference

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Aicardi syndrome: MR assessment of brain structure and myelination.

20 June 2018

1 reference

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Congenital cystic eye with multiple ocular and intracranial anomalies.

20 June 2018

1 reference

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Delleman syndrome: a case report and review

20 June 2018

1 reference

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Oculoauriculovertebral spectrum and cerebral anomalies

20 June 2018

1 reference

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Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case.

20 June 2018

1 reference

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Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.

26 November 2018

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Callosal agenesis with cyst: a better understanding and new classification

26 November 2018

1 reference

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The oculocerebrocutaneous (Delleman-Oorthuys) syndrome.

26 November 2018

1 reference

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Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases.

26 November 2018

1 reference

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Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome.

26 November 2018

1 reference

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Severe oculocerebrocutaneous (Delleman) syndrome: overlap with Goldenhar anomaly.

26 November 2018

1 reference

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Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735958

Encephalocraniocutaneous lipomatosis: case report and review of the literature

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735958

Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis

26 November 2018

1 reference

12 December 2020

Aicardi syndrome with Dandy-Walker malformation

1 reference

12 December 2020

Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity?

1 reference

12 December 2020

Oculo-cerebro-cutaneous syndrome: description of a new case

1 reference

12 December 2020

Focal dermal hypoplasia syndrome. An update

1 reference

12 December 2020

Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations

1 reference

12 December 2020

Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.031369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15879499%20AND%20SRC:MED&resulttype=core&format=json

release_3ukwxyqwvzbchil3473raqzupe

11 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/3ukwxyqwvzbchil3473raqzupe

24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15879499%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

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