MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. (Q42693482)

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28 October 2019

title

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM (English)

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28 October 2019

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2

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28 October 2019

author name string

Vits L

1

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28 October 2019

Coucke P

3

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28 October 2019

Fransen E

4

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28 October 2019

De Boulle K

5

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28 October 2019

Reyniers E

6

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28 October 2019

Korn B

7

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28 October 2019

Poustka A

8

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28 October 2019

Wilson G

9

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28 October 2019

Schrander-Stumpel C

10

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28 October 2019

language of work or name

English

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publication date

1 July 1994

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28 October 2019

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28 October 2019

volume

7

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28 October 2019

issue

3

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28 October 2019

page(s)

408-413

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The MASA syndrome: A new heritable mental retardation syndrome

28 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

A duplication in the L1CAM gene associated with X-linked hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

Calcium influx into neurons can solely account for cell contact-dependent neurite outgrowth stimulated by transfected L1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

Regulation of axonal growth in the vertebrate nervous system by interactions between glycoproteins belonging to two subgroups of the immunoglobulin superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

Neural cell adhesion molecules modulate tyrosine phosphorylation of tubulin in nerve growth cone membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

Structure of the chicken neuron-glia cell adhesion molecule, Ng-CAM: origin of the polypeptides and relation to the Ig superfamily

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

Drosophila neuroglian: a member of the immunoglobulin superfamily with extensive homology to the vertebrate neural adhesion molecule L1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

X-linked mental retardation associated with bilateral clasp thumb anomaly.

21 January 2018

1 reference

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7 January 2021

Mental retardation-clasped thumb syndrome.

1 reference

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7 January 2021

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

MASA syndrome: further clinical delineation and chromosomal localisation

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

MASA syndrome: new clinical features and linkage analysis using DNA probes

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

MASA syndrome: clinical variability and linkage analysis.

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

X-linked mental retardation with bilateral clasped thumbs: report of another affected family

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Sex-linked hydrocephalus. Report of a family with 15 affected members

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

A strategy for the selection of transcribed sequences in the Xq28 region

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Molecular structure and functional testing of human L1CAM: an interspecies comparison

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

L1-mediated axon outgrowth occurs via a homophilic binding mechanism

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Neural cell adhesion molecules influence second messenger systems

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Molecular cloning of NILE glycoprotein and evidence for its continued expression in mature rat CNS.

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1038%2FNG0794-408

7 January 2021

Identifiers

DOI

10.1038/NG0794-408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7920660%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 October 2019

1010161074

0 references

1 reference