(Q58451563)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678982%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion (English)

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4 February 2020

1

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4 February 2020

Vittoria Disciglio

2

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4 February 2020

Francesca Novara

3

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4 February 2020

Joussef Hayek

6

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4 February 2020

Alessandra Renieri

7

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4 February 2020

Orsetta Zuffardi

8

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4 February 2020

9

Renzo Guerrini

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4 February 2020

author name string

Maria Antonietta Mencarelli

5

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4 February 2020

James A Barkovich

4

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4 February 2020

language of work or name

English

0 references

publication date

7 June 2012

1 reference

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American Journal of Medical Genetics

4 February 2020

published in

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4 February 2020

volume

158A

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4 February 2020

issue

7

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4 February 2020

page(s)

1793-1797

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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

4 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

The 6p subtelomere deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Dysmyelination of the cerebral white matter with microdeletion at 6p25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Terminal deletion of 6p results in a recognizable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Molecular genetics of Axenfeld-Rieger malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35416

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35416

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22678982%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference