FLNA genomic rearrangements cause periventricular nodular heterotopia (Q35758662)

10 August 2017

title

FLNA genomic rearrangements cause periventricular nodular heterotopia (English)

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nodular neuronal heterotopia

10 August 2017

main subject

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6

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E Parrini

7

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Benoit Funalot

object named as

B Funalot

8

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author name string

K R Clapham

1

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10 August 2017

T W Yu

2

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10 August 2017

V S Ganesh

3

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10 August 2017

B Barry

4

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10 August 2017

Y Chan

5

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10 August 2017

L Dupuis

9

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10 August 2017

M M Nezarati

10

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10 August 2017

C du Souich

11

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10 August 2017

C van Karnebeek

12

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10 August 2017

R Guerrini

13

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C A Walsh

14

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10 August 2017

language of work or name

English

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publication date

11 January 2012

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10 August 2017

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10 August 2017

volume

78

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10 August 2017

issue

4

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10 August 2017

page(s)

269-278

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Allelic diversity in human developmental neurogenetics: insights into biology and disease

10 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Copy number variation in human health, disease, and evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Mechanisms of change in gene copy number

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Replication stalling at unstable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Copy-number variation and association studies of human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Autosomal recessive form of periventricular heterotopia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Factors affecting inverted repeat stimulation of recombination and deletion in Saccharomyces cerevisiae

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Emerin deletions occurring on both Xq28 inversion backgrounds

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Inverted DNA repeats: a source of eukaryotic genomic instability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Transketolase abnormality in cultured fibroblasts from familial chronic alcoholic men and their male offspring

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Abnormality of a thiamine-requiring enzyme in patients with Wernicke-Korsakoff syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Erythrocyte Transketolase Activity in the Wernicke-Korsakoff Syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Wernicke-Korsakoff syndrome in monozygotic twins: a biochemical peculiarity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Lung disease in FLNA mutation: confirmatory report.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Periventricular heterotopia associated with chromosome 5p anomalies.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3280053

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

25 September 2018

1 reference

12 December 2020

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

1 reference

12 December 2020

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

1 reference

12 December 2020

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

1 reference

12 December 2020

10.1212/WNL.0B013E31824365E4

Identifiers

DOI

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10 August 2017

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10 August 2017

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