Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. (Q33732875)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8057113%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene (English)

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24 October 2019

0 references

3

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24 October 2019

author name string

J M Pinard

1

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24 October 2019

J Motte

2

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24 October 2019

R Brian

4

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24 October 2019

E Andermann

5

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24 October 2019

O Dulac

6

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24 October 2019

language of work or name

English

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publication date

1 August 1994

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Journal of Neurology, Neurosurgery and Psychiatry

24 October 2019

published in

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24 October 2019

volume

57

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24 October 2019

issue

8

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24 October 2019

page(s)

914-920

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STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

24 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

LISSENCEPHALY IN 2 SIBLINGS.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Stages and patterns of centrifugal arrest of diffuse neuronal migration disorders.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Further comments on the lissencephaly syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Developmental aspects of lissencephaly and the lissencephaly syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Generalized cortical dysplasia manifested by diffusely thick cerebral cortex.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Familial aplasia of the cerebellar vermis. Possible X-linked dominant inheritance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Band heterotopias: a newly recognized neuronal migration anomaly

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Diagnostic features and clinical signs of 21 patients with lissencephaly type 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

An endogenous lectin and one of its neuronal glycoprotein ligands are involved in contact guidance of neuron migration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Unusual MRI appearance of diffuse subcortical heterotopia or "double cortex" in two children

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Bibliography on X-linked mental retardation, the fragile X, and related subjects V (1991).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Double cortex. A neuronal migration anomaly as a possible cause of Lennox-Gastaut syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Riding the glial monorail: A common mechanism for glialguided neuronal migration in different regions of the developing mammalian brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Lissencephaly and Pachygyria: an architectonic and topographical analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

HEREDITARY TURRICEPHALY, FAMILIAL MICROCEPHALY WITH LISSENCEPHALY; REPORT OF THIS MALFORMATION SYNDROME WITH CEREBRO-MEDULLARY DYSRHAPHIAS

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Familial periventricular nodular heterotopia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

30 October 2018

Lissencephaly: two cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073073

Hereditary Nephritis: A Re-examination of its Clinical and Genetic Features

30 October 2018

1 reference

12 December 2020

[Inhibition of development of brain & cerebellum]

1 reference

12 December 2020

HYPERTELORISM AND LISSENCEPHALIA. STUDY OF A FAMILIAL FORM (FAMILY MA..). (PRELIMINARY REPORT)

1 reference

12 December 2020

FAMILIAL FORM OF HYPERTELORISM ASSOCIATED WITH LISSENCEPHALIA WITH THE CLINICAL PICTURE OF A FORM OF MENTAL RETARDATION ASSOCIATED WITH EPILEPSY AND SPASTIC PARAPLEGIA

1 reference

12 December 2020

[Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities]

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.57.8.914

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8057113%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8057113%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference