(Q36320022)

13 August 2017

1 reference

title

Periventricular heterotopia: new insights into Ehlers-Danlos syndrome (English)

1 reference

13 August 2017

Ehlers-Danlos syndrome

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author name string

Volney L Sheen

series ordinal

1

1 reference

PMC publication ID

1288408

13 August 2017

Christopher A Walsh

series ordinal

2

1 reference

13 August 2017

1 November 2005

1 reference

Clinical Medicine and Research

13 August 2017

1 reference

13 August 2017

3

1 reference

13 August 2017

4

1 reference

13 August 2017

229-233

1 reference

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Genetic malformations of the cerebral cortex and epilepsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Increased filamin binding to beta-integrin cytoplasmic domains inhibits cell migration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Filamins as integrators of cell mechanics and signalling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Hereditary subependymal heterotopia associated with mega cisterna magna: antenatal diagnosis with magnetic resonance imaging.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

The role of periventricular nodular heterotopia in epileptogenesis.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Functional imaging in periventricular nodular heterotopia with the use of FDG-PET and HMPAO-SPECT.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288408

Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia

22 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

1 reference

12 December 2020

Direct interaction of filamin (ABP-280) with the beta 2-integrin subunit CD18

1 reference

12 December 2020

Glycoprotein (GP) Ib-IX-transfected cells roll on a von Willebrand factor matrix under flow. Importance of the GPib/actin-binding protein (ABP-280) interaction in maintaining adhesion under high shear

1 reference

12 December 2020

Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes

1 reference

12 December 2020

Identifiers

DOI

10.3121/CMR.3.4.229

1 reference

13 August 2017

1 reference

PMC publication ID

1288408

13 August 2017

PubMed publication ID

16303888

1 reference

PMC publication ID

1288408