(Q28581093)

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24056535%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24056535%20AND%20SRC:MED&resulttype=core&format=json

6q terminal deletion syndrome

22 February 2020

main subject

1 reference

10

1 reference

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22 February 2020

Valerio Conti

1

1 reference

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22 February 2020

Elena Parrini

4

1 reference

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22 February 2020

Francoise Watrin

11

1 reference

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22 February 2020

Stefano Lise

12

1 reference

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22 February 2020

Jenny Taylor

14

1 reference

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22 February 2020

Francesca Novara

17

1 reference

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22 February 2020

Orsetta Zuffardi

18

1 reference

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22 February 2020

William B. Dobyns

19

1 reference

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22 February 2020

Ingrid Scheffer

20

1 reference

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22 February 2020

Stephen Robertson

21

1 reference

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22 February 2020

Samuel Berkovic

22

1 reference

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22 February 2020

Alfonso Represa

23

1 reference

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22 February 2020

26

Renzo Guerrini

1 reference

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22 February 2020

15

Usha Kini

2 references

31 January 2017

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22 February 2020

Alistair T Pagnamenta

13

object named as

Alistair T Pagnamenta

1 reference

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22 February 2020

9

Pasquale Striano

1 reference

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22 February 2020

5

Richard J Leventer

1 reference

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22 February 2020

author name string

Aurelie Carabalona

2

2 references

31 January 2017

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22 February 2020

Emilie Pallesi-Pocachard

3

2 references

31 January 2017

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22 February 2020

Emmanuelle Buhler

6

2 references

31 January 2017

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22 February 2020

George McGillivray

7

2 references

31 January 2017

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22 February 2020

Jill Clayton-Smith

16

2 references

31 January 2017

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22 February 2020

Carlos Cardoso

25

2 references

31 January 2017

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22 February 2020

François J Michel

8

1 reference

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22 February 2020

David A Keays

24

1 reference

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22 February 2020

language of work or name

English

0 references

publication date

20 September 2013

1 reference

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22 February 2020

2 references

31 January 2017

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22 February 2020

volume

136

2 references

31 January 2017

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22 February 2020

issue

Pt 11

2 references

31 January 2017

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22 February 2020

page(s)

3378-3394

1 reference

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Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

22 February 2020

cites work

1 reference

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RNAi reveals doublecortin is required for radial migration in rat neocortex

21 January 2018

1 reference

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A developmental and genetic classification for malformations of cortical development: update 2012

21 January 2018

1 reference

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A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

21 January 2018

1 reference

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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

21 January 2018

1 reference

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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT249

Calibration of 6q subtelomere deletions to define genotype/phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT249

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

21 January 2018

1 reference

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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

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Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

21 January 2018

1 reference

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Neuronal migration disorders

21 January 2018

1 reference

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The choice of cell fate in the epidermis of Drosophila.

21 January 2018

1 reference

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A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation

21 January 2018

1 reference

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An embryonic stem cell chromatin remodeling complex, esBAF, is essential for embryonic stem cell self-renewal and pluripotency

21 January 2018

1 reference

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Differential effects of Notch ligands Delta-1 and Jagged-1 in human lymphoid differentiation

21 January 2018

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Selection of differentiating cells by different levels of delta-like 1 among neural precursor cells in the developing mouse telencephalon

21 January 2018

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An essential switch in subunit composition of a chromatin remodeling complex during neural development

21 January 2018

1 reference

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Cytoskeletal protein ABP-280 directs the intracellular trafficking of furin and modulates proprotein processing in the endocytic pathway

21 January 2018

1 reference

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Notch signalling in vertebrate neural development

21 January 2018

1 reference

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Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

21 January 2018

1 reference

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Periventricular heterotopia in fragile X syndrome.

21 January 2018

1 reference

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Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia

21 January 2018

1 reference

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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT249

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

21 January 2018

1 reference

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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

21 January 2018

1 reference

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The Wnt signalling effector Dishevelled forms dynamic protein assemblies rather than stable associations with cytoplasmic vesicles.

21 January 2018

1 reference

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Periventricular heterotopia associated with chromosome 5p anomalies.

21 January 2018

1 reference

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Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

21 January 2018

1 reference

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Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease

21 January 2018

1 reference

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6q subtelomeric deletion: is there a recognizable syndrome?

21 January 2018

1 reference

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Filamins as integrators of cell mechanics and signalling

21 January 2018

1 reference

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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

21 January 2018

1 reference

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Filamin A regulates caveolae internalization and trafficking in endothelial cells

21 January 2018

1 reference

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Structural and functional aspects of filamins

21 January 2018

1 reference

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Periventricular heterotopia in common microdeletion syndromes

21 January 2018

1 reference

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

21 January 2018

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RNA interference by expression of short-interfering RNAs and hairpin RNAs in mammalian cells

21 January 2018

1 reference

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Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia

21 January 2018

1 reference

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Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

21 January 2018

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Periventricular nodular heterotopia and Williams syndrome

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT249

2 references

Consolidated OpenCitations Corpus – April 2017

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22 February 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24056535%20AND%20SRC:MED&resulttype=core&format=json