(Q24517924)

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Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22

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Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22 (English)

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Cherif Beldjord

13

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Pierre Billuart

object named as

P Billuart

8

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author name string

V des Portes

1

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J M Pinard

2

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D Smadja

3

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J Motte

4

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O Boespflüg-Tanguy

5

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M L Moutard

6

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I Desguerre

7

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A Carrie

9

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T Bienvenu

10

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M C Vinet

11

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L Bachner

12

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O Dulac

14

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A Kahn

15

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G Ponsot

16

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J Chelly

17

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language of work or name

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publication date

March 1997

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Journal of Medical Genetics

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34

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3

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177-83

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

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19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

19 March 2017

The 1993-94 Généthon human genetic linkage map

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

24 March 2017

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

7 April 2017

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

7 April 2017

High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

Band brain heterotopia. Case report and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

Subcortical laminal heterotopia and lissencephaly: cerebral malformations of X-linked inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

The agyria-pachygyria complex: a spectrum of cortical malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

30 May 2018

Causal heterogeneity in isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

30 May 2018

New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

30 May 2018

Familial band heterotopias simulating tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

29 November 2018

Periventricular heterotopia and epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050888

29 November 2018

Autosomal recessive eye and brain anomalies: Warburg syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9132485

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heritable unstable DNA sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/9132485

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9132485

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9132485

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMG.34.3.177

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1136/JMG.34.3.177

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